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Natural History of Morquio B and Late-Onset of GM1 Gangliosidosis

NCT04320329 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2020-04-30

No results posted yet for this study

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 deformities involving mostly long bones and spine. While the information on GLB1 mutations associated with MBD is limited, there is a significant overlap in clinical presentation between Morquio B and late-onset GM1 gangliosidosis with both conditions being caused by mutations in the same GLB1 gene. In this study, the investigators plan to collect retrospective data from patients' medical charts, as well as, information from the prospective follow up clinic visits. There will be two study visits with the interval of one year. The study procedures will include a detailed physical exam, bone scans, heart and lung function, physical endurance tests, hearing test, laboratory tests and quality of life surveys.

The purpose of this study is to collect data on the natural history of Morquio B and to create a biobank of laboratory samples (blood, urine and skin cells) for future research. This information will improve the understanding of the natural progression of Morquio B disease.

Conditions

  • Morquio B Disease
  • GM1 Gangliosidosis Type III

Sponsors & Collaborators

  • Hospital de Clinicas de Porto Alegre

    collaborator OTHER

  • Medical University of Graz

    collaborator OTHER

  • University of British Columbia

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-06-01
Primary Completion
2021-05-31
Completion
2022-05-31

Countries

  • Canada

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04320329 on ClinicalTrials.gov