Status:
UNKNOWN
Natural History of Morquio B and Late-Onset of GM1 Gangliosidosis
Lead Sponsor:
University of British Columbia
Collaborating Sponsors:
Hospital de Clinicas de Porto Alegre
Medical University of Graz
Conditions:
Morquio B Disease
GM1 Gangliosidosis Type III
Eligibility:
All Genders
Brief Summary
Mucopolysaccharidosis type IVB (Morquio-B disease, MBD) is an autosomal-recessive lysosomal disease caused by mutations in a gene called GLB1. Clinically, Morquio B presents with progressive skeletal ...
Detailed Description
The primary objective of this study is to establish the natural history of Morquio B (Mucopolysaccharidosis type IVB, MBD) disease through the collection and analysis of retrospective and prospective ...
Eligibility Criteria
Inclusion
- Confirmed diagnosis of beta-galactosidase deficiency via demonstration of deficient enzyme activity and/or demonstration of homozygous/compound heterozygous pathogenic GLB1 variants;
- Patients diagnosed with beta-galactosidase deficiency and who present with "MPSIVB skeletal phenotype" with or without primary CNS involvement;
- Patient / parent or legal guardian is able to read, understand, and sign the informed consent.
Exclusion
- Previous Hematopoietic Stem Cell Transplant procedure (HSCT);
- Concurrent disease or condition that would interfere with participation in the study and/or travel to the site (for the prospective follow up);
- Previous or current casual treatments that might affect the natural course of the disease;
- Patient's (guardian's) not understanding and/or not agreeing to the informed consent form;
- GM1-gangliosidosis patients who present without "MPSIVB skeletal phenotype"
Key Trial Info
Start Date :
June 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
May 31 2022
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT04320329
Start Date
June 1 2020
End Date
May 31 2022
Last Update
April 30 2020
Active Locations (1)
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1
BC Children's Hospital
Vancouver, British Columbia, Canada, V6H3V4