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NCT04320329

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

Status unknown Last updated 30 April 2020
What this trial tests

trial in Morquio B Disease in 30 participants. Status unknown.

Timeline
1 June 2020
Primary endpoint
31 May 2021
31 May 2022

Quick facts

Lead sponsorUniversity of British Columbia
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment30
Start date1 June 2020
Primary completion31 May 2021
Estimated completion31 May 2022
Sites1 location across Canada

Conditions studied

Sponsor

University of British Columbia

Who can join

Eligibility, any sex, with Morquio B Disease or GM1 Gangliosidosis Type III. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct <i>GLB1</i>-Related Dysostosis Multiplex.
    Yuskiv N, Higaki K, Stockler-Ipsiroglu S. · · 2020 · cited 14× · PMID 33266180 · DOI 10.3390/ijms21239121

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