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Canadian Inherited Marrow Failure Registry

Opened in 2001, the Canadian Inherited Marrow Failure Registry (CIMFR) is a non-profit study which is open for enrollment of patients with inherited bone marrow failure syndromes (IBMFSs). Its goal is to overcome barriers for research in IBMFSs and improve patient outcomes. 
 
By collecting data and biological samples, CIMFR studies and aims to decipher how these conditions evolve, current challenges related to outcome and mechanisms of bone marrow failure, leukemia and other organ complications so that more effective and less toxic strategies are developed to treat and cure the disorders. 
 
Over 600 patients from all Canadian provinces have enrolled in the registry. The CIMFR database has been the foundation for multiple publications tackling important medical problems, diagnostic dilemmas, and treatment of children with these conditions. 

What are inherited bone marrow failure syndromes?

IBMFSs are genetic disorders with varying defects in the production of red blood cells, white blood cells and platelets. Some IBMFSs are also associated with the development of myelodysplastic syndromes, leukemia and solid tumours. The results of current treatments are not satisfactory. Life expectancy is substantially reduced in many patients due to medical problems or side effects of the treatments. The only curative option is replacement of the bone marrow with a new one (bone marrow transplant), but many of the patients experience serious side effects from this therapy.

Who we are

CIMFR is run by a collaborative network of expert physicians and researchers from the largest paediatric medical centres across Canada. 

  • Conrad Fernandez 
  • Catherine Corriveau-Bourque 
  • Geoff Cuvelier 
  • Roona Sinha 
  • Robert Klaassen 
  • Lisa Goodyear 
  • Meera Rayar 
  • Josee Brossard 
  • Vicky Breakey 
  • Bruno Michon 
  • Mariana Silva 
  • Soumitra Tole 
  • Yves Pastore 
  • Sharon Abish 
  • MacGregor Steele 
  • Jeffrey Lipton 
  • Michaela Cada

  • Rinu Mathew

  • Hongbing Li 

What we do

  • Maintain a network of experts in bone marrow failure and myelodysplastic syndromes in Canada who communicate regularly, share knowledge, provide state-of-the-art care and conduct cutting-edge research 
  • Collect medical information from patients or physicians who have enrolled patients across Canada and abroad 
  • Obtain research samples such as blood, bone marrow, and tumors from participants 
  • Seek to understand how these diseases change from childhood to adulthood 
  • Perform clinical research focused on unique and similar medical features of the various IBMFSs, various complications, challenges, responses to treatment and outcomes 
  • Conduct biological research to find the genetic causes of the disorders, how the disorders develop and discover clues for early detection of complications (such as cancer) and novel treatments 

Registry objectives

Our objective is to establish a nationwide infrastructure and network for research in the field of IBMFSs.

Clinical aims

  • Characterize the medical problems related to the various IBMFSs 
  • Determine the age, rate and risk factors for developing complications such as severe aplastic anemia/myelodysplasia/acute leukemia/solid tumours in patients and their relatives 
  • Determine how effective the various therapeutic modalities (e.g. transfusion, growth factors, hormonal medicines, bone marrow transplant) are, and how to improve outcome 

Biological aims

  • Discover new genes associated with IBMFSs 
  • Discover how medical complications develop in the patient and how to identify them early 
  • Discover novel strategies to treat patients and novel treatments

Registering patients

  • Any child or adult with bone marrow failure or myelodysplastic syndrome that is or suspected to be hereditary (or inherited, congenital or familial)  
  • Patients with any IBMFS are eligible to be enrolled in the CIMFR. 

  • Any Canadian paediatric haematologist/oncologist who is part of the CIMFR network 
  • Any physician that has an eligible patient who wants to participate in the study 
  • Patients and families can also register directly 

  • Contact the CIMFR study coordinator for a registration package with information about the study and a patient consent form.  
  • If the patient or their guardian consents to participate, fill out the consent and registration forms  
  • Send all forms together in an email to the CIMFR study coordinator 
  • The registration form and consent forms must be sent by the participating physician  

  • After the consent forms are signed, the research team at the CIMFR site that enrolled the participants will fill out a data collection form or enter the data directly into the CIMFR REDCap database. 
  • The coded and anonymized data then arrives will be sent to the study’s central office at SickKids for analysis. 
  • Samples (e.g. bone marrow, blood, tumor tissue) are collected at the time that a subject has a procedure done for clinical purposes. 

Classification of Inherited Bone Marrow Failure Syndromes

There are over 30 IBMFSs and new IBMFSs are being discovered, so this list is not exhaustive.

Fanconi's anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, congenital amegakaryocytic thrombocytopenia. GATA2-related disorders (e.g. Emberger syndrome), cartilage-hair hypoplasia, Pearson's syndrome, reticular dysgenesis, WT syndrome, ataxia-pancytopenia syndrome, familial platelet disorder with predisposition to acute myelogenous leukemia.

Diamond-Blackfan anemia, sideroblastic anemia, congenital dyserythropoietic anemias.

Kostmann's syndrome, cyclic neutropenia, Benign familial neutropenia, Glycogen storage disease Ib, Barth's syndrome, Myelokathexis and WHIM syndrome, Cohen syndrome.

Thrombocytopenia absent radii, familial thrombocytopenia, gray platelets syndrome, familial macro-thrombocytopenia (Alport/Fetchner/Ebstein/Sabastian, May-Hegglin, Mediterranean, Montreal), IVIC syndrome, dyserythropoietic anemia with thrombocytopenia.

  • Bone marrow failure in a patient with other categorized or uncategorized inherited syndrome
  • Myelodysplastic syndromes in a patient with other categorized or uncategorized inherited syndrome

Related AboutKidsHealth resources

Publications

  1. Steele JM, Sung L, Klaassen R, Fernandez CV, Yanofsky R, Wu J, Odame I, Silva M., Champagne J, Ali, K, Brossard J, Samson Y, Abish S, Le D, Jardine L, Hand JP, Lipton JH, Charpentier K, Stephens D, Freedman M, Dror Y. Disease Progression in Recently Diagnosed Patients with Inherited Marrow Failure Syndromes:  A Canadian Inherited Marrow Failure Registry (CIMFR) Report.  Pediatr Blood Cancer 2006: 47(7): pp 918-925 
  2. Teo JT, Klaassen R, Fernandez CV, Yanofsky R, Wu J, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Uma Athale, Jardine L, Hand JP, Tsangaris E, Odame I, Beyene B, Dror Y. Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes.  Pediatrics 2008: 122(1): pp 139-148.   
  3. Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y. Comparative analysis of Shwachman-Diamond Syndrome to other Inherited Marrow Failure Syndromes. Clin Genet. 2011: 79(5): pp 448-58   
  4. Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Stephen D, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. Genetic analysis of inherited bone marrow failure syndromes from one comprehensive and population-based cohort and identification of novel mutations. J Med Genet 2011: 48(9): pp 618-28 
  5. Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey VR, Jardine L, Goodyear L, Sung L, Dhanraj S, Reble E, Wagner A, Beyene J, Ray P, Meyn S, Cada M, Dror Y. Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.  J Med Genet 2015 Sept: 52(9):575-84 
  6. Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva S,. Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y.  The clinical impact of copy number variants in inherited bone marrow failure syndromes. npj Genomic Medicine  2017 May 10;2 
  7. Lauhasurayotin S, Cuvelier GD, Klaassen RJ, Fernandez CV, Pastore YD, Abish S, Rayar M, Steele M, Jardine L, Breakey VR, Brossard J, Sinha R, Silva M, Goodyear L, Lipton JH, Michon B, Corriveau-Bourque C, Sung L, Shabanova I, Li H, Zlateska B, Dhanraj S, Cada M, Stephen SW, Dror Y.  Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. NPJ Genom Med. 2019; 4: 30 
  8. Heidemann S, Bursic B, Zandi S, Li H, Abelson S, Klaassen RJ, Abish S, Rayar M, Breakey VR, Dhanraj S, de Borja R, Shlien A, Dick JE, Dror Y. Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure. JCI Insight. 2020 Feb 27;5(4) 

Contact us

Study Coordinator

Dr. Bozana Zlateska 
Email: cimf.registry@sickkids.ca 
Phone: 416-813-7654 ext. 201587  

Administrative Coordinator

Christian Youn 
Email: christian.youn@sickkids.ca 
Phone: 416-813-7654 ext. 424678
 
Bone Marrow Failure and Myelodysplasia Program 
Division of Haematology/Oncology 
The Hospital for Sick Children 
555 University Avenue, 
Toronto, Ontario 
Canada  
M5G1X8

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