UnknownNot Applicable

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

Canada30 participantsStarted 2020-06-01

Plain-language 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 Criteria: * 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"

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Physical Development

Timeframe: Through study completion, an average of 1 year

Physical Development

Timeframe: Through study completion, an average of 1 year

Physical Development

Timeframe: Through study completion, an average of 1 year

Physical Endurance

Timeframe: 1 year

Physical Endurance

Timeframe: 1 year

Physical Endurance

Timeframe: 1 year

Range of Motion Scale

Timeframe: Through study completion, an average of 1 year

Skeletal involvement

Timeframe: Through study completion, an average of 1 year

Trial details

NCT IDNCT04320329

SponsorUniversity of British Columbia

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-05-31

Contact for this trial

Nataliya Yuskiv, Dr

6048752000 nyuskiv@cw.bc.ca

View on ClinicalTrials.gov More Morquio B Disease trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Physical Development

Timeframe: Through study completion, an average of 1 year

Physical Development

Timeframe: Through study completion, an average of 1 year

Physical Development

Timeframe: Through study completion, an average of 1 year

Physical Endurance

Timeframe: 1 year

Physical Endurance

Timeframe: 1 year

Physical Endurance

Timeframe: 1 year

Range of Motion Scale

Timeframe: Through study completion, an average of 1 year

Skeletal involvement

Timeframe: Through study completion, an average of 1 year