Clinical Trials
We hope that the MGM study will facilitate diagnosis and access to clinical trials for some participants.
Our team is involved in a number of investigator-initiated and industry-sponsored clinical trials and registries for inborn errors of metabolism. These include:
- Canadian Fabry Disease Initiative National Registry: Outcomes of Rare Disease Therapeutics and Cardiovascular Risk Factor Modification
- Genzyme Rare Disease Registry: A Multi-center, International, Longitudinal, Observational Program Designed to Track the Natural History and Outcomes of Patients with Gaucher, Fabry, MPS 1, and Pompe Disease
- A multicenter, double blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease (MODIFY Study)
- A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease
- A phase 3, multicenter, multinational, randomized, double-blind, double-dummy, active-comparator study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3 (GD3) who have reached therapeutic goals with Enzyme Replacement Therapy (ERT) (EFC17215)
- An Observational, Longitudinal, Prospective, Long-Term Registry of Patients with Hypophosphatasia; ALX-HPP-501 (Alexion Pharmaceuticals)
- Functional Testing of Variants of Unclear Significance in the ALPL gene as a cause of Hypophosphatasia (Alexion, AstraZeneca Rare Disease)
- Families’ Health Care Experiences for Children with Inherited Metabolic Diseases: a mixed methods, cohort study (Family centered care for children with inherited metabolic diseases – CIMDRN) (CIHR)
- Silent Genomes: Precision Diagnosis for Indigenous Families with Genetic Conditions (Activity 2 of Silent Genomes: Reducing Health Care Disparities and Improving Diagnostic Success for Children with Genetic Disease from Indigenous Populations) (Genome Canada, CIHR)
Information about most clinical trials and registries can also be found at https://clinicaltrials.gov/
Clinical Trials Team
Aysheh Shuaibi, MSc, PhD
Clinical Trials Coordinator
Aysheh (she/her) holds a PhD in Human Nutrition Sciences from the University of Manitoba. Prior to this role Aysheh worked as sessional instructors and research collaborators at the Human Nutrition department. Currently, Aysheh serves as a Clinical Research Coordinator at the CHRIM, where she conducts all study-related activities in strict accordance with study protocols, sponsor instructions, institutional policies, and Good Clinical Practice (GCP) standards. Her role requires meticulous attention to ethical requirements and compliance with both national and international regulations. This position has not only honed her research skills but also deepened her understanding of clinical trials and patient care. Aysheh enjoys cooking, gardening, yoga, and spending time with her family.
Catherine Desrochers, BSc, BSc (HNS)
Clinical Trials & Registry Coordinator
Catherine is a Research Assistant who is responsible for data entry into the respective patient registries on all consenting patients with Lysosomal Storage Disorders.
