NCT04320329|Unknown
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Sponsor study identifier
observational
30
1 country
1
Study Start
June 1, 2020
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Primary Completion
May 31, 2021
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
May 31, 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
May 31, 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
March 17, 2020
Actual (reported)March 25, 2020
Actual (reported)June 1, 2020
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
May 31, 2021
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
May 31, 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Physical Development
Height
Through study completion, an average of 1 year
Physical Development
Weight
Through study completion, an average of 1 year
Physical Development
Growth rate
Through study completion, an average of 1 year
Physical Endurance
6MWT
1 year
Physical Endurance
3MSCT
1 year
Physical Endurance
Standard Grip Strength evaluation
1 year
Biobank of samples for the future research
1 year
Patients of any age, any gender with no previous HSCT procedure, with a confirmed diagnosis of beta-galactosidase deficiency and who clinically present with skeletal dysostosis with or without CNS involvement.
BC Children's Hospital
Vancouver, British Columbia, V6H3V4, Canada
Blood Urine Dried Blood Spot sample Fibroblasts frozen live cells
First Submitted
March 17, 2020
First Posted
March 25, 2020
Study Start
June 1, 2020
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Primary Completion
May 31, 2021
Range of Motion Scale
Assessments: shoulder, elbow, wrist, hip, knee, ankle
Through study completion, an average of 1 year
Skeletal involvement
X-ray studies, pQCT (where available), DXA of lateral distal femur, x-ray and/or MRI of cervical spine to assess spinal stenosis and spinal cord compression; X-ray of cervical spine to assess odontoid hypoplasia and atlantoaxial instability
Through study completion, an average of 1 year
CNS involvement
Neurological assessments, Brain MRI
Through study completion, an average of 1 year
Surrogate biomarkers
Glycosaminoglycans (GAGs): keratan sulfate, heparan sulfate, dermatan sulfate, chondroitin-6-sulfate
Baseline and 1 year
Surrogate biomarkers
Comprehensive pro-inflammatory cytokine panel with markers of bone turnover
Baseline and 1 year
Health-related Quality of Life (HRQoL)
SF-36
Baseline and 1 year
Health-related Quality of Life (HRQoL) and Activities of Daily living (ADLs)
MPS-HAQ
Baseline and 1 year
Personally Meaningful Outcomes
PMO Questionnaire
Baseline and 1 year
Contact the study team to confirm eligibility.
This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
May 31, 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Last Updated
April 30, 2020
Record last verified: 2020-04
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Source: ClinicalTrials.gov.
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