Oncology

Cold agglutinin disease (CAD)

Overview

 

CAD is a rare, chronic, autoimmune haemolytic anaemia with potentially serious acute and chronic consequences that are driven by C1 activation of the classical complement pathway.1 The diagnosed prevalence for CAD is estimated to be up to 20 per 1,000,000 people.2-4 Median age of onset is approximately 60 years, but CAD has been diagnosed in patients as young as 30 years.2,5-7 C1-activated haemolysis in CAD is caused by chronic activation of the classical complement pathway.8,9 Persistent activation of the classical complement pathway leads to the production of anaphylatoxins, promoting inflammation. Due to chronic C1-activated haemolysis, many patients remain in a haemolytic state over 5 years.2 Severe anaemia events are unpredictable and can occur at any time throughout the disease course.5 CAD is associated with significant increased rate of life-threatening thromboembolic events (TEs).10 Life-threatening TE risk persisted, regardless of season.11 “Cold” in CAD does not represent weather or season.

Diagnosis

 

Recognising CAD early can help patients receive optimal care.1 CAD is a rare, chronic, autoimmune haemolytic anaemia that shouldn’t be confused with CAS secondary to infection or cancer. For patients, CAD is not a benign condition. If CAD is suspected, the test procedure requires the blood sample to be kept at 37°C to 38°C from the time it is drawn until it is tested to avoid potential false negatives. Refrigeration must be avoided. Key steps of the Diagnostic Algorithm: Detected Anaemia → Confirmed Haemolysis → Positive Polyspecific DAT → Clinical Assessment → Monospecific DAT positive for C3d → Cold Agglutinin titre ≥ 1:64 → Further clinical & serological assessment.

Symptoms5, 7,9, 12, 13,14,15

 

Symptoms caused by haemolysis:

  • Anaemia, shortness of breath
  • Profound fatigue
  • Haemoglobinuria
  • Jaundice

 

Symptoms caused by agglutination:

  • Circulatory symptoms: Acrocyanosis, Raynaud’s phenomenon
  • Livedo reticularis (rarely)

 

Patients with CAD also face a significantly increased risk of medically attended depression and anxiety.16

References:

  1. Berentsen S, Beiske K, Tjønnfjord GE. Primary chronic cold agglutinin disease: an update on pathogenesis, clinical features and therapy. Hematology. 2007;12(5):361-370. doi:10.1080/10245330701445392
  2. Berentsen S, Ulvestad E, Langholm R, et al. Primary chronic cold agglutinin disease: a population based clinical study of 86 patients. Haematologica. 2006;91(4):460-466.
  3. Berentsen S, Barcellini W, D’Sa S, et al. Cold agglutinin disease revisited: a multinational, observational study of 232 patients. Blood. 2020;136(4):480-488. doi:10.1182/blood.2020005674
  4. Bylsma LC, Gulbech Ording A, Rosenthal A, et al. Occurrence, thromboembolic risk, and mortality in Danish patients with cold agglutinin disease. Blood Adv. 2019;3(20):2980-2985. doi:10.1182/bloodadvances.2019000476
  5. Mullins M, Jiang X, Bylsma LC, et al. Cold agglutinin disease burden: a longitudinal analysis of anemia, medications, transfusions, and health care utilization. Blood Adv. 2017;1(13):839-848. doi:10.1182/bloodadvances.2017004390
  6. Berentsen S, Tjønnfjord GE. Diagnosis and treatment of cold agglutinin mediated autoimmune hemolytic anemia. Blood Rev. 2012;26(3):107-115. doi:10.1016/j.blre.2012.01.002
  7. Berentsen S, Röth A, Randen U, Jilma B, Tjønnfjord GE. Cold agglutinin disease: current challenges and future prospects. J Blood Med. 2019;10:93-103. doi:10.2147/JBM.S177621
  8. Noris M, Remuzzi G. Overview of complement activation and regulation. Semin Nephrol. 2013;33(6):479-492. doi:10.1016/j.semnephrol.2013.08.001
  9. Berentsen S. Complement activation and inhibition in autoimmune hemolytic anemia: focus on cold agglutinin disease. Semin Hematol. 2018;55(3):141-149. doi:10.1053/j.seminhematol.2018.04.002
  10. Broome CM, Cunningham JM, Mullins M, et al. Increased risk of thrombotic events in cold agglutinin disease: a 10-year retrospective analysis. Res Pract Thromb Haemost. 2020;4(4):628-635. doi:10.1002/rth2.12333
  11. Kamesaki T, Nishimura J-i, Wada H, et al. Demographic characteristics, thromboembolism risk, and treatment patterns for patients with cold agglutinin disease in Japan. Int J Hematol. 2020:112(3):307-315. doi:10.1007/s12185-020-02899-6
  12. Elharake M, Bors K. Cold agglutinin disease: a case report. W V Med J. 2017;1-4.
  13. Berentsen S, Randen U, Tjønnfjord GE. Cold agglutinin-mediated autoimmune hemolytic anemia. Hematol Oncol Clin North Am. 2015;29(3):455-471. doi:10.1016/j.hoc.2015.01.002
  14. Hill QA, Stamps R, Massey E, Grainger JD, Provan D, Hill A; British Society for Haematology. The diagnosis and management of primary autoimmune haemolytic anaemia. Br J Haematol. 2017;176(3):395-411. doi:10.1111/bjh.14478
  15. Aljubran SA. Cold agglutinin disease clinical presentation. Medscape website. Updated December 2, 2020. Accessed March 30, 2022. emedicine.medscape.com/article/135327-clinical
  16. Patel P, Jiang X, Nicholson G, et al. Medically attended anxiety or depression is increased among newly diagnosed patients with cold agglutinin disease (CAD). Blood. 2020;136(suppl 1):28. doi:10.1182/blood-2020-139791
Cutaneous T-Cell Lymphoma
Overview

Cutaneous T-cell lymphomas (CTCL) are a diverse group of malignant blood disorders characterized by initial skin presentation, and sometimes, tumor spreading to lymph nodes, blood, and viscera. Mycosis fungoides is the most common form of cutaneous T-cell lymphoma (CTCL).
The annual incidence of MF and its variants is estimated at 3–9 persons per million population, with classic MF accounting for approximately 80–90% of MF cases. The male to female ratio is 2:1. Classic MF mainly affects adults and the elderly (median age at diagnosis: 55–60 years). For most people, MF is an indolent, chronic disease, but the course of mycosis fungoides for any one individual can be unpredictable (prognosis depends on the stage at diagnosis). It is not an infection and cannot be passed from person to person.

Diagnosis

Mycosis fungoides is very difficult to diagnose, especially in early stages. The symptoms and skin biopsy findings of MF are similar to other benign skin conditions like eczema, psoriasis, parapsoriasis…

Typical procedures done to diagnose MF include:

  • A physical exam
  • A skin and/or lymph node biopsy (pathologist examination)
  • Blood tests

It is very important that any diagnosis of MF is confirmed by a pathologist who has expertise in diagnosing cutaneous lymphomas. Staging investigations, including a computer tomography scan and/or positron emission tomography, should be performed in cases of advanced MF.

Symptoms

The disease first manifests by skin lesions consisting of flat patches, preferentially located asymmetrically on the buttocks and other sun-protected areas (lower trunk and thighs, and the breasts in women). In the advanced stages of the disease, infiltrated plaques and red-violet, dome-shaped tumors or generalized erythroderma may develop. Lymph nodes are the most frequent site of extracutaneous involvement. Visceral involvement (liver, lung, and bone marrow) may also occur.

Causes

The etiology remains unknown. There is no supportive research indicating that MF is hereditary.

References

  1. https://www.clfoundation.org/mycosis-fungoides

  2. https://www.orpha.net/en/disease/detail/2584?name=Mycosis%20fungoides,%20Alibert-Bazin%20type&mode=name

  3. Immunol Lett . 2024 Aug:268:106871. doi: 10.1016/j.imlet.2024.106871

HRNB
Overview

Neuroblastoma is a rare cancer that originates in the nervous system.1 It starts in early unmature nerve cells that are most often found in the embryo or foetus2 and is the most common extracranial solid tumour diagnosed in children under 15 years of age, comprising around 7% of all childhood cancers3.

 

It affects approximately 1,600 babies and young children every year across the EU4 and US5 (800 in each region respectively).

Symptoms
Early symptoms can be vague and hard to spot, and so may be mistaken for more common childhood conditions.6 Symptoms vary depending on where the tumour is in the body and if it has spread.7 65% of neuroblastomas develop in the abdomen, for example the adrenal gland and kidney.8 A common symptom is a lump in the abdomen, that can cause swelling, pain, constipation or diarrhoea. Other symptoms include8: 
  • High blood pressure
  • Breathlessness and difficulty swallowing
If the lump is located in the chest, this may cause signs and symptoms such as:
  • Wheezing
  • Chest pain
In some cases, neuroblastoma can affect the spinal cord.8 This can cause:
  • Numbness
  • Weakness
  • Loss of movement in the lower part of the body
In some cases, neuroblastoma can affect the spinal cord.8 This can cause:
  • Lump of tissue under the skin
  • Eyeballs that seem to protrude from the sockets (proptosis)
  • Dark circles, similar to bruises, around the eyes
  • Back pain
  • Fever
  • Unexplained weight loss
  • Bone pain
Diagnosis

Most neuroblastomas are diagnosed in babies or children under five years old.9 Researchers do not yet know the cause of neuroblastoma. Neuroblastomas are usually picked up when a child is brought to their doctor because of the symptoms they are experiencing.10

 

In 50% of patients, the cancer has already spread at diagnosis.11 Delays in diagnosis are often due to the complex nature of the cancer, for example the wide variety of symptoms.12

 

Around 50% of patients are diagnosed with high-risk neuroblastoma and this has the worst prognosis.8 Normally, high-risk neuroblastoma means the cancer has spread. Patients will need an intensive treatment approach, often using a combination of different therapies.13

References
  1. Pastor ER, Mousa SA. 2019. Current management of neuroblastoma and future direction. Critical Reviews in Oncology/Hematology. 138:38-43.
  2. American Cancer Society. What is neuroblastoma? Available at: https://www.cancer.org/cancer/neuroblastoma/about/what-is-neuroblastoma.html
  3. Nadja C. Colon et al. Neuroblastoma. 2011; 58(1): 297–311. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC366879
  4. Gatta G et al. European Journal of Cancer. 2012; 48, 1425-1433. Note: 1.8 cases of neuroblastoma per million were estimated every year in EU 27. With the current population estimated at 448 million this would equate to 806.4 patients
  5. American Cancer Society. Key Statistics About Neuroblastoma. Available at: https://www.cancer.org/cancer/neuroblastoma/about/key-statistics.html [November 2020]
  6. NHS. Neuroblastoma. Available at: https://www.nhs.uk/conditions/neuroblastoma/ Last accessed November 2021
  7. Swift, CC et al. Updates in Diagnosis, Management, and Treatment of Neuroblastoma. RadioGraphics, 2018. Volume 38, Issue 2, Pages 566 -580
  8. Medscape. Neuroblastoma: Practice Essentials, Background, History of the Procedure. Available at: https://emedicine.medscape.com/article/439263-overview#a10
  9. Shohet J and Foster J. 2017. Neuroblastoma. BMJ. 357:j1863 doi:10.1136/bmj.j1863.
  10. American Cancer Society. Tests for neuroblastoma. Available at: https://www.cancer.org/cancer/neuroblastoma/detection-diagnosis-staging/how-diagnosed.html
  11. Ward, E et al. 2014. Childhood and adolescent cancer statistics. CA: A Cancer Journal for Clinicians. 64(2): 83–103.
  12. Tolbert, V.P. and Matthay, K.K. 2018. Neuroblastoma: clinical and biological approach to risk stratification and treatment. Cell and Tissue Research. 372(2):195-209. doi:10.1007/s00441-018-2821-2.
  13. ASCO. Neuroblastoma – Childhood: Stages and Groups. Available at: https://www.cancer.net/cancer-types/neuroblastoma-childhood/stages-and-groups
Idiopathic multicentric Castleman disease (iMCD)
Overview

Castleman disease (CD) is a collection of rare inflammatory blood disorders in which lymphocytes, a type of white blood cell, are over produced leading to enlarged lymph nodes.1 CD can affect a person regardless of their age, gender, or race.1,2,4 It is classified into distinct clinical subtypes based on the number of enlarged lymph node regions, histopathological features, and clinical presentation.1-3 All types of CD may be symptomatic, progressive, and require treatment.1,5 Idiopathic multicentric CD (iMCD) is a subset of CD involving multiple groups of enlarged lymph nodes in people who are human immunodeficiency virus (HIV) negative and human herpesvirus-8 (HHV-8) negative.5,6 Each year, between 3-4 people among every million in the general population are estimated to be diagnosed with iMCD.2 This rare, difficult-to-diagnose condition can have serious and potentially life-threatening consequences.5-7

Symptoms

iMCD can present with a variety of symptoms and laboratory abnormalities that can be mistaken for other mimicking diseases.5 Patients often have serious comorbidities and may have multiple organ dysfunction or failure.6,7

 

Common clinical signs and symptoms of iMCD may include: 6-9

  • Enlarged lymph nodes (multiple regions)
  • Flu like symptoms: Night sweats, fever, weight loss, fatigue and weakness
  • Laboratory findings: Anemia, elevated C- reactive protein, low albumin levels, elevated ESR, IL-6 and VEGF, high immunoglobulin levels
  • Organ dysfunction: Enlarged liver or spleen, renal dysfunction
  • Skin lesions
  • Edema
  • Respiratory symptoms, excess build-up of fluids in the lung
Diagnosis

iMCD diagnosis requires histopathological and clinical assessment for major, minor, and exclusion criteria as outlined by the diagnostic guidelines.6

Diagnosing iMCD is challenging due to lack of unique biomarkers and overlapping symptoms with infectious, immune, and malignant diseases. Diagnostic delays among patients with CD contribute to an overall increase in the burden of disease and an increase in morbidity and mortality for these patients.10-11

Causes

iMCD pathology is poorly understood and the exact cause is unknown. The disease pathology has been associated with autoimmune and autoinflammatory activity and most likely to be driven by cytokines, specifically, interleukin-6 (IL-6).11-12

IL-6 is a cytokine that activates an inflammatory cascade across many tissues and organs.12-13 Most signs and symptoms of iMCD have been linked to IL-6, and overproduction of IL-6 is a key proposed driver of iMCD, however, the cause of increased IL-6 in iMCD is currently unknown.12-14

References
  1. Dispenzieri A, Fajgenbaum DC. Blood. 2020;135(16):1353-1364.
  2. Mukherjee S, et al. Blood Adv. 2022;6(2):359-367
  3. Fajgenbaum DC. Blood. 2018;132(22):2323-2330.
  4. Borocco C, et al. Orphanet J Rare Dis. 2020;15(1):95.
  5. van Rhee F, et al. Blood. 2018;132(20):2115-2124.
  6. Fajgenbaum DC, et al. Blood. 2017;129(12):1646-1657.
  7. Bustamante MS, et al. Haematologica. 2024;109(7):2196-2206
  8. Liu AY et al. Lancet Haematol. 2016;3(4):e163–e175.
  9. Oksenhendler E et al. Br J Haematol. 2018;180(2):206–216
  10. Zinzani PL, et al. Hemasphere. 2023;7(6):e891
  11. Mukherjee S, et al. Leukemia. 2022;36(10):2539-2543
  12. Fajgenbaum DC, Shilling D. Hematol Oncol Clin North Am. 2018;32(1):11-21.
  13. Yoshizaki K, et al. Hematol Oncol Clin N Am. 2018;32(1):23-36.
  14. Tanaka T, et al. Cancer Immunol Res. 2014;2(4):288-294
  15. Beck JT, Hsu SM, Wijdenes J, et al. N Engl J Med. 1994;330(9):602-605.
Rare Cancers
Wilms’ tumour (Nephroblastoma)1,2
  • A rare malignant renal tumour, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumour.
  • It usually presents as an abdominal mass in an otherwise apparently healthy child. 
  • It occurs most commonly among children under 5 years old, and has a very low incidence in the 10-14 and 15-19-year-old populations. 
  • The annual incidence is estimated at about 1/10,000 births and it affects boys as well as girls.
  • It represents 5% of all pediatric cancers.
Childhood rhabdomyosarcoma (Soft Tissue Sarcoma)3,4
  • Rhabdomyosarcoma is the most common soft tissue tumour found in children and adolescents. 
  • The median age of diagnosis is 5 years. Rhabdomyosarcoma can develop anywhere in the body, including in sites where striated muscle does not normally occur. The most frequent locations are: the head and neck (40%).
  • The annual incidence is 1/170,000. In children younger than 15 years, the annual incidence is estimated at 1/244,000.
  • It accounts for 3% of childhood cancers.
Gestational trophoblastic neoplasia5,6,7
  • A rare, malignant group of gestational trophoblastic diseases always following pregnancy, most often molar pregnancy. Four histological forms are described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumour (PSTT) and epithelioid trophoblastic tumour (ETT).
  • Gestational choriocarcinoma is the most frequent form of gestational trophoblastic neoplasia (GTN); whilst epidemiological data is limited, in the Netherland incidence is estimated at 1/33,000 deliveries and in the USA 1/41,000 pregnancies. This disease appears to be more frequent amongst the Asian population.
  • It develops from the cells that would normally develop into the placenta during pregnancy. 
  • GTN include invasive mole, choriocarcinoma, placenta site trophoblastic tumour and epithelioid trophoblastic tumour (very rare).
References
  1. https://www.orpha.net/en/disease/detail/654?name=Wilms&mode=name
  2. J Natl Compr Canc Netw. 2021 Aug 1;19(8):945-977. doi: 10.6004/jnccn.2021.0037
  3. https://www.orpha.net/en/disease/detail/780?name=rhadomyosarcoma&mode=name
  4. Chen S, Kelsey AM, Rudzinski ER. Rhabdomyosarcoma in children and young adults. Virchows Arch. 2024 Dec 18. doi: 10.1007/s00428-024-03961-y. Epub ahead of print. PMID: 39694930
  5. https://www.orpha.net/en/disease/detail/59305?name=Gestational%20trophoblastic%20neoplasm&mode=name
  6. Obstet Gynecol. 2021 Jan 5;137(2):355–370.
  7. Eur J Cancer. 2020 May:130:228-240. doi: 10.1016/j.ejca.2020.02.011. Epub 2020 Apr 1.
Renal Cell Carcinoma
Overview

Renal cell cancer (also called kidney cancer or renal cell adenocarcinoma) is a disease in which malignant (cancer) cells are found in the lining of tubules (very small tubes) in the kidney.1

Kidney cancer accounts for 5% and 3% of all newly diagnosed adult cancer in men and women, respectively, with over 90% of kidney cancers being RCC. This makes RCC one of the top 10 most common cancers worldwide.2,3

Symptoms

There may be no signs or symptoms in the early stages. Some of the most common symptoms may include:1

  • Blood in the urine
  • A lump in the abdomen
  • A pain in the side that doesn’t go away
  • Loss of appetite
  • Weight loss for no known reason
  • Anemia
Diagnosis

In order to diagnose and stage RCC, imaging (CT, MRI, ultrasound) is used, followed by a biopsy or assessment of a nephrectomy specimen to determine the subtype of RCC.2,3

 

After renal cell cancer has been diagnosed, tests are done to find out if cancer cells have spread within the kidney or to other parts of the body. The following stages are used to determine the severity of renal cell cancer upon diagnosis:1

  • Healthy term infants: 45±9 micromol/L; 80 to 90 micromol/L is the upper limit of normal.
  • Preterm infants: 71±26 micromol/L, decreasing to term levels in approximately seven days
  • Children older than 1 month: less than 50 micromol/L
  • Adults: less than 30 micromol/L

In the neonatal period, hyperammonemia presents with non-specific signs and symptoms, and thus important tests to rule out sepsis, meningitis, intracranial hemorrhage, and GI bleed should be considered. Raised levels of ammonia should prompt specific investigations including arterial blood gases, blood glucose, lactate and citrulline levels, plasma and urinary amino acids, organic acids, urinary ketones, etc. Some additional tests that can be done for diagnosing urea cycle defects and organic acidemias, including specific enzyme assays on liver biopsy specimens or r blood cells and DNA mutation.

In many countries nowadays diagnosis of PA, MMA and IVA is performed with newborn screening (NBS).

References

  1. https://www.cancer.gov/types/kidney/patient/kidney-treatment-pdq#:~:text=Renal%20cell%20cancer%20(also%20called,filter%20and%20clean%20the%20blood.

  2. Escudier et al. Renal cell carcinoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Annals of Oncology 2016; 27(suppl. 5): v58–v68.

  3. Hsieh et al. Renal cell carcinoma. Nat Rev Dis Primers 2017; 3: 17009. doi:10.1038/nrdp.2017.9.

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Réseau des Associations Vouées aux Troubles Sanguins Rares

The NRBDO is a pan Canadian coalition of not-for-profit organizations representing people with rare blood disorders and/or people with a chronic condition who are recipients of blood or blood products or their alternatives.

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Lymphoma Canada (Lymphome Canada)

Lorsque l’on est confronté à un lymphome, on se sent vite dépassé. Nous sommes une communauté au sein de laquelle on peut parler de cette maladie qui est le cinquième cancer le plus fréquent au Canada.

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Acromégalie Canada

Acromégalie Canada est un organisme à but non lucratif fondé en 2019 pour rassembler les Canadiens dont la vie a été touchée par l’acromégalie. Notre mission est de sensibiliser à l’acromégalie et au gigantisme par l’éducation tout en offrant un réseau de soutien aux patients et à leurs familles à travers le Canada.

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Global Genes

Global Genes est une organisation éminente de lutte contre les maladies rares. Sa mission consiste à sensibiliser et éduquer la communauté mondiale ainsi qu’à établir des relations importantes et à fournir des ressources essentielles permettant aux défenseurs de cette cause de s’engager pour lutter contre leur maladie.

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Regroupement Québécois des Maladies Orphelines

Par l’entremise de son Centre d’information et de ressources en maladies rares, la RQMO fournit des renseignements et du soutien aux professionnels de la santé, aux patients qui souffrent de maladies rares et orphelines ainsi qu’à leur famille.

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Collège canadien de généticiens médicaux

Le CCMG est une organisation nationale canadienne qui aide ses membres, les gouvernements et le public en assurant la certification des personnes, en établissant des normes, en dispensant des formations, et en guidant la politique d’intérêt public.

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National Urea Cycle Disorders Foundation (NUCDF, fondation nationale pour les troubles du cycle de l'urée)

La NUCDF (fondation nationale pour les troubles du cycle de l’urée) est dédiée à l’identification, le traitement et la guérison des troubles du cycle de l’urée.

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Canadian Organization for Rare Disorders (CORD, organisation canadienne pour les maladies rares)

La CORD (organisation canadienne pour les maladies rares) est le réseau national canadien des organisations représentant toutes les personnes atteintes de maladies rares. La CORD s’engage en vue de promouvoir une politique et un système de santé qui répondent aux besoins des personnes atteintes de maladies rares.

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The Garrod Association (l'association Garrod)

The Garrod Association (l’association Garrod) est un organisme canadien permanent à l’échelle nationale dédié à la coordination de la gestion de maladies métaboliques héréditaires.

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Association canadienne de porphyrie

L’Association canadienne de porphyrie s’engage à promouvoir la santé en permettant aux personnes atteintes de porphyrie d’avoir accès à un service de conseil et à des informations pertinentes ainsi qu’à des programmes de soutien de groupe.

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Vous quittez recordatirarediseases.com, un site Web de Recordati Rare Diseases. Recordati Rare Diseases ne vérifie ni ne contrôle le contenu des sites Web externes. Les procédures de confidentialité de Recordati Rare Diseases ne s’appliquent pas aux sites Web externes et les hyperliens ne constituent pas une approbation par Recordati Rare Diseases du contenu du site Web externe.

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Vous quittez recordatirarediseases.com, un site Web de Recordati Rare Diseases. Recordati Rare Diseases ne vérifie ni ne contrôle le contenu des sites Web externes. Les procédures de confidentialité de Recordati Rare Diseases ne s’appliquent pas aux sites Web externes et les hyperliens ne constituent pas une approbation par Recordati Rare Diseases du contenu du site Web externe.

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Network of Rare Blood Disorder Organizations​

The NRBDO is a pan Canadian coalition of not-for-profit organizations representing people with rare blood disorders and/or people with a chronic condition who are recipients of blood or blood products or their alternatives.

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Lymphoma Canada

Dealing with lymphoma can be overwhelming. We are community that helps people talk about and cope with the fifth most common cancer in Canada.

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Acromegaly Canada

Acromegaly Canada is a not-for-profit established in 2019 to bring together Canadians whose lives have been touched by acromegaly. Our mission: to raise awareness of acromegaly and gigantism through education while providing a network of support for patients and their families across Canada.

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Regroupement Québécois des Maladies Orphelines

Through its Center for Information and Resources on Rare Diseases, RQMO provides information and support to health professionals and to patients with rare and orphan diseases and their families.

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Canadian College of Medical Geneticists

CCMG is a national Canadian organization that serves its members, governments and the public by certifying individuals, establishing standards, providing education, and informing public policy.

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National Urea Cycle Disorders Foundation

The NUCDF is dedicated to the identification, treatment and cure of urea cycle disorders.

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Canadian Organization for Rare Disorders

CORD is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders.
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The Garrod Association

The Garrod Association is a permanent Canadian body at the national level for the coordination of the management of inherited metabolic disorders.
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Global Genes

Global Genes is a leading rare disease advocacy organization. Their mission is to build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.
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Canadian Association for Porphyria

The Canadian Association for Porphyria is dedicated to promoting health by providing individuals with porphyria access to related counselling, information, and group support programs.
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Elisabeth Bergmans
Head of Legal

Elisabeth holds a master degree in corporate and commercial law from the University of Maastricht, and has 17 years experience in the legal profession. She began her career at the Benelux law firm Loyens & Loeff in Amsterdam where she specialized in Private Equity, banking & finance and insolvency & restructuring.


Feeling the need to work closer to the business, Elisabeth then held different positions as Legal Counsel in various industries, such as pension fund investment management, sustainable energy and a private equity fund. In 2015 she joined Teva Pharmaceuticals’ European headquarters in Amsterdam, covering over the years different roles with growing responsibilities; in her last remit she was General Counsel EU Commercial, responsible for the European regional legal support of innovative medicines and commercial HQ activities. In 2021, Elisabeth moved to Milan and continued her activities from there.


In September 2024 she joined Recordati as Head of Legal RRD where she is responsible for the global legal support of the Rare Diseases B.U.

Davide Paganoni
Head of Oncology Franchise

Davide is a biologist with more than 20 years of experience in the Health Care business with a broad commercial experience that ranges from rare disease to OTC.  He joined RRD in 2022, with the acquisition of EUSA, where he used to be Head of Europe and Global Marketing. Prior to EUSA Davide had more experiences as General Manager for biotech and pharma companies as Amryt and Exeltis and before he gained a strong experience in rare disease and ultra-specialistic areas covering senior commercial roles in highly recognized companies like Alexion and Astra Zeneca.

Aziza Johnson
Head of Regulatory Affairs

Aziza Johnson holds a Bachelor of Pharmacy from the London School of Pharmacy and a master’s degree in law from the University of Leicester. She is also a certified Board member, having completed the ZHAW Board of Directors program.

 

Aziza has over 27 years of experience in regulatory affairs, clinical development, and scientific strategy across global pharmaceutical companies and regulatory agencies. She has worked on numerous drug development programs, from clinical trials to market launches, with expertise in orphan drug development, regulatory compliance, and pharmacovigilance. Her career spans leadership roles in both the public and private sectors, including positions at Pfizer and the Medicines and Healthcare products Regulatory Agency (MHRA), where she honed her skills in pharmaceutical regulation and drug approval processes. She also facilitated over 25 successful acquisitions, expanded into new markets, and secured numerous regulatory approvals across the FDA, EMA, MHRA, CFDA, TGA, ANVISA, and Health Canada.

 

In 2023, Aziza joined Recordati Rare Diseases as Head of Regulatory Affairs, where she oversees global regulatory affairs for treatments targeting rare diseases. She leads efforts to secure regulatory approvals across diverse markets, ensuring patients with unmet medical needs receive timely access to innovative therapies.

Francesco Palombi
Head of Finance

Francesco Palombi is an experienced finance executive with over 25 years of global experience across pharmaceuticals, energy, and luxury goods. He holds a Master’s degree in Business Management from the University Cattolica del Sacro Cuore of Milan.

 

He began his career in 1997 at Price Waterhouse and later moved to ENI S.p.A. and Snam Rete Gas, where he managed financial audits, reporting, and external financial statements. In 2005, he joined Roche, advancing to roles including Head of Accounting & Credit Management, Head of Finance & Manufacturing Controlling, and Head of Controlling & Business Analysis.

 

In 2015, he became CFO of Roche Thailand & New Markets, managing finance across multiple countries. He later served as Global Head of Finance for Supply Chain and Product Strategy at Roche, leading financial strategy for global supply chain and product management, before assuming his current role as Global Finance Head at Recordati Rare Diseases in 2022.

Juan-Carlos Gerena
Group Supply Chain Head

Juan Carlos Gerena is a results-driven executive with over 20 years of global experience in manufacturing, supply chain, and business development across diverse industries, including FMCG, pharmaceuticals (branded and generics), and commodities. He has a proven track record of leading large-scale transformations, driving operational excellence, and managing complex end-to-end supply chains in multicultural and international environments.


Currently, as VP of Global Supply Chain at Recordati Group, Juan Carlos oversees the supply chain strategy for both Specialty Pharma and Rare Diseases divisions. Previously, he led global supply operations for renowned organizations like Sobi, Teva Pharmaceuticals, Galderma, Novartis, and Mylan, achieving major milestones such as scaling supply chains to support global expansion, integrating supply networks post-acquisition, and optimizing S&OP processes. His expertise spans strategic sourcing, logistics, CDMO management, pipeline scalability, and digital transformation.


A dynamic leader with a focus on delivering value and operational efficiency, he also played pivotal roles at Shell Oil Products Europe and Unilever, managing complex logistics optimization projects, refinery supply chains, and innovative process development initiatives.


Juan Carlos holds an MBA from the University of Houston and a Bachelor of Science in Industrial Engineering from the University of the Philippines. A skilled communicator, he is fluent in Spanish, English, Italian, and Filipino, with a working knowledge of German. His global mindset, technical expertise, and cultural adaptability make him an influential leader in driving sustainable business growth and supply chain resilience.

Gianni Paniale
Human Resources Director

Gianni holds a degree in Business Administration from Bocconi University in Milan and has built a versatile career spanning management consulting and the pharmaceutical industry.  His professional journey began in 1989 at Proudfoot, a management consulting firm specialising in productivity and quality improvements. Gianni took on progressively senior roles, eventually leading international projects across Italy, France, Germany, the UK, and the Czech Republic.


In 1997, he joined Recordati, initially responsible for the Organisation department, he later assumed leadership of human resources for the commercial organisation in Italy. In 2004, Gianni played a pivotal role in Recordati’s international expansion, leading HR efforts for acquisitions, start-ups and the consolidation of local affiliates.


In 2022, he was appointed Human Resources Director for the Rare Diseases business unit, where he oversaw HR strategies for this specialised and impactful division of the Group. His career reflects a deep commitment to fostering organisational growth and development on both a domestic and global scale.

Georg Thies
Head of Endocrinology Franchise

Georg Thies holds a diploma in Biology and has over 30 years of experience in the pharmaceutical industry.

 

His career in pharma started in 1984 with an apprenticeship at AMERSHAM BUCHLER. He later studied Biology at the GEORG-AUGUST UNIVERSITY in Göttingen and participated in the ERASMUS Program at the KING’S COLLEGE in London.

 

After 2,5 years of civil service, he continued his career at ROCHE in 1995, progressing from Key Account Manager to roles in National and International Marketing for Oncology products.

In 2002 he joined Amgen in Switzerland as International Brand Director for Oncology and Business Unit Head Oncology Switzerland. From 2008 onwards he worked as a Country Director for Sweden.

In 2011, Georg returned to Switzerland, gaining experience in Project- and New Product Planning. He was appointed European Brand Director Cardiovascular in 2012 and European Franchise Director General Medicine in 2014, overseeing Cardiology, Nephrology, Osteoporosis, and Inflammation.

In 2016, he joined SHIRE/TAKEDA, eventually becoming the Global Commercial Executive Director and later VP Global Program Lead in Endocrinology. He concluded his tenure at TAKEDA as Global Commercial Lead Gastrointestinal.

Since August 2022, Georg has been the VP RECORDATI Rare Disease Franchise Head Endocrinology.

Luca Setti
Corporate Portfolio Management Director

Luca Setti is the Corporate Portfolio Management Director at Recordati Rare Diseases, where he is responsible for the evaluation of business development opportunities, and the strategic guidance for life cycle management and pipeline projects.


Luca joined Recordati in July 2020 as Corporate Portfolio Manager, playing a pivotal role in the latest transactions performed by the company in the rare disease space, and in the management of pipeline projects.


Prior to joining Recordati, Luca worked for 10+ years in the business and corporate development departments of Alfasigma and Chiesi Farmaceutici, where he led the completion of multiple asset deals and licensing transactions.


Luca holds a Master’s Degree in Management Engineering from the Politecnico di Milano

Caring for the planet

A clean environment is essential for people’s well-being: the health of the planet and the health of people are closely connected. The air we breathe, the water we drink and the climate we live in all have an impact on our wellbeing. Focusing on people’s health and being sustainable also means prioritising environmental protection while behaving responsibly towards future generations.

 

This is why we ensure we conduct business in a socially responsible manner and in accordance with sustainable practices, national and international laws, and the demands of our stakeholders.

Caring for our communities

Contributing to the well-being of the community and dedicating part of our resources to acts of solidarity is not merely an obligation or professional duty for Recordati but a moral imperative.

 

We believe that caring for the communities in which we’re a part is essential to help them develop and grow, and to foster a sense of pride and belonging among our people.

Our Culture

The Recordati culture is built on the pillars of entrepreneurship, purpose and belonging; all have been part of our company since our beginnings in a small pharmacy in Northern Italy almost 100 years ago.

 

At the heart of our culture are our people, who are focused on always doing the right thing in the right way. We work together – across businesses, borders, time zones and national cultures – to support patients around the world in unlocking the full potential of life.

 

We give people the opportunity to develop themselves and bring their own unique ideas and perspectives to the table. Our culture is one where people can truly be the best versions of themselves, are safe to speak up and empowered to make decisions and experiment, learning as they go.

Diversity & Inclusion

Diversity is at the heart of our business and we do not tolerate any discrimination based on ethnicity, nationality, gender, sexual orientation, disability, age, political or religious belief, or any other personal characteristics.

 

We work hard to create a safe and inclusive work environment, respecting everyone’s right to physical and psychological integrity, as well as freedom of opinion and association. We know that we each of us has a role to play in the success of Recordati and each of us is rewarded for the unique contributions we make, regardless of who we are or where we come from.

Luigi Longinotti
Managing Director and General Manager EMEA

Luigi Longinotti is the Managing Director and General Manager for EMEA at Recordati Rare Diseases, where he oversees the company’s business operations across Europe, the Middle East, and North Africa. In this role, he is responsible for a broad range of functions, including Commercial, Medical Affairs, Marketing, and Market Access as well as key enabling areas such as Human Resources, Finance, Legal, Compliance to support the business’s growth and success.

 

Luigi joined Recordati in July 2014 as Corporate Portfolio Management Director for Orphan Drugs. During his tenure, he played a pivotal role in driving the expansion of the company’s rare disease portfolio, leading efforts in business development, strategic marketing, and the management of pipeline projects.

 

Prior to joining Recordati, Luigi held senior positions in business and corporate development at Chiesi Farmaceutici and Menarini Group, where he successfully led numerous high-impact asset deals and transactions.

Luigi holds a degree in Economics from the University of Florence and a Master’s in Business Innovation from the prestigious Sant’Anna School of Advanced Studies in Pisa.

Bruno Parenti
Head of LAC Region

Bruno Parenti is VP of LAC Region at Recordati Rare Diseases, leading the business in Latin America, Asia Pacific, and Russia. He started opening new markets in 2012, spearheading the expansion of operations around the globe including the direct entry in Japan, China, South Korea, Australia, Brazil, Colombia, Mexico, and Argentina. In the last 2 years, he has successfully integrated the oncology portfolio in the Region, with new launches expanding the access to these life changing therapies to more and more patients.

 

From 2019 to 2022 he has held the additional role of Head of Global Endocrinology, establishing the new HQ in Basel, building from scratch a dedicated organization and coordinating the global launch of Isturisa and the re-launch of Signifor.

 

Prior to these positions, he spent two years at Recordati Ireland overseeing international sales in the Asia-Pacific region. He served at Chiesi Farmaceutici for two years as Area Manager for the Far East. Earlier in his career, he held commercial roles at Kedrion Biopharmaceuticals where he was responsible for international markets with a focus on Latin America and the Middle East.

Mohamed Ladha
President and General Manager, North America

Mohamed Ladha is the President and General Manager at Recordati Rare Diseases where he is  responsible for the US and Canadian business. During his career,  Mohamed has held numerous leadership positions globally in hematology/oncology and specialty care to oversee business in the US, Canada, EU, China, Emerging Markets, and Japan.

 

Mohamed  joins Recordati Rare Diseases from Oncopeptides, where he was the General Manager and Executive Vice President for the US Region Business Unit. Prior to Oncopeptides, he served in a series of leadership positions of increasing responsibility at companies including Vertex Pharmaceuticals, Pfizer, Schering-Plough, Merck & Company, Hospira, ARIAD Pharmaceuticals, Takeda Oncology, and Tocagen. He started his career in basic science research focused in oncology at the Dana-Farber Cancer Institute.

 

Mohamed graduated from Hampshire College with a Bachelor of Arts degree. He also holds professional/graduate degrees from Harvard University’s Kennedy School of Government and Northwestern University’s Kellogg School of Management.

Scott Pescatore
Executive Vice President

Scott Pescatore is Vice President and Head of Global Operations at Recordati Rare Diseases.

He holds a Doctor of Pharmacy degree and completed his post-doctoral fellowship in Pharmacology and Drug Development. Dr Pescatore has spent over 20 years working internationally in the pharmaceutical industry, specializing in oncology, haematology and rare diseases.

He joined Novartis Oncology US in 2001 where he served in various medical, sales and marketing roles of increasing responsibility. In 2008, he moved to Novartis Oncology UK as Business Franchise Head for solid tumours where he also managed the New Products portfolio. In 2010 he moved to Milan to manage the Region Europe Haematology Franchise where he led the joint venture between Novartis Oncology and Incyte to launch a novel treatment for myeloproliferative disorders. In 2014 he was appointed the Oncology General Manager in Ireland and after three years returned to Milan as General Manager of the Region Europe Rare Disease Business Unit, overseeing operations in 37 markets and focusing on the endocrinology portfolio.

Prior to joining Recordati Rare Diseases in 2020, he was Vice President Oncology Business Unit for AstraZeneca Italy where he was responsible for the portfolio of oncology/haematology products including two joint ventures with MSD and Daiichi Sankyo.

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