We hope that the CPMN will facilitate diagnosis and access to clinical trials for some of our patients.
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 Randomized, Double-blind, Placebo-controlled,12-month Phase 3 Study to Evaluate the Effect of Venglustat on Neuropathic and Abdominal Pain in Male and Female Adults with Fabry Disease who are Treatment-naïve or Untreated for At least 6 Months (EFC17045)
- 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) (pending REB approval)
- 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
Alie was born and raised in Winnipeg, MB, Treaty 1 and the homeland of the Metis Nation. She holds a BA in Biology from Pine Manor College in Boston, MA, and an MSc in Human Nutritional Sciences from the University of Manitoba. In her role with the Metabolic Disorders Clinical Trial Team, she coordinates Fabry and Gaucher disease clinical trials and contributes to lysosomal storage disorder registries. Alie’s primary interest is health care equity and improving access to care. Outside of work Alie enjoys spending time in the woods, and with her family and dog.
Amy has worked in Pediatrics for her entire nursing career. Prior to branching into research she was a Critical Care Nurse at the Children’s Hospital in Winnipeg, Manitoba. Amy became interested in research in 2005 and became a full-time Research Coordinator for Dr. Cheryl Rockman-Greenberg in 2010. She has worked on many research projects, especially those involving Hypophophatasia.