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Canadian Patient Registry for Inherited Retinal Diseases (IRDs)

Goal 

The “Canadian Patient Registry for Genetic and Phenotypic Data from Patients Suffering From Inherited Retinal Degenerations (IRDs): A Collaboration with the Fighting Blindness Canada (FBC) » is being designed to be a useful tool for all types of researchers facilitating research on the natural history of inherited retinal dystrophies, the planning and recruitment of clinical trials, and many more including basic science studies, low vision and economic impact of blindness studies.

Description

Registering standardized information from patients affected with retinal degenerations is important to evaluate different aspects of the diseases such as natural history and burden of disease on a population basis. Importantly it allows identification of patients with a specific clinical and/or molecular diagnosis which may allow eligibility of patients for specific studies, clinical trials and/or other therapeutic opportunities. To accomplish this, a tool is required to capture consistent phenotype and genetic information relating to patients affected with retinal degenerations in Canada. This has led to the development of a medical information database called the « Canadian Patient Registry for Inherited Retinal (or eye) Disease ».

Impact 

The Patient Registry serves a dual purpose, benefiting both patients and scientist/physicians alike. This registry will allow scientists and physicians to identify and access specific patient populations for new therapies. Identify the disease burden of these diseases in Canada. This registry will open the doors for patients to avail of potential treatments that are fully Health Canada and FDA approved. With the ongoing efforts toward global implementation, we recognize that this registry will be able to engage with potentially eligible study participants.

Accessibility

For scientists/physicians: please complete the Data Access Request Form available here.

For any other additional information (join FBC Patient Registry, support FBC, connection between patients and clinical trials), please consult Fighting Blindness Canada or Vaincre la cécité Canada web sites.

Infrastructure administrator

Robert K. Koenekoop, MD, PhD, Clinician-Scientist, Paediatric Ophthalmologist, Director of Pediatric Ophthalmology and Molecular Biologist of Blindness, McGill University Health Center – Research institute (RI-MUHC), Senior scientist, RI-MUHC, Glen site and professor, Department of Pediatric Surgery, Faculty of Medicine, McGill University

Contact information

Robert K. Koenekooprobkoenekoop@hotmail.com

Data base manager : Glenda Vargas – glenda.vargas@muhc.mcgill.ca

Funding

  • Vision Health Research Network
  • Fighting Blindness Canada