Morquio B DiseaseNCT04320329
Natural History of Morquio B and Late-Onset of GM1 Gangliosidosis
An observational study of Morquio B Disease and GM1 Gangliosidosis Type III, run by University of British Columbia at 1 site in Canada.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Morquio B Disease, GM1 Gangliosidosis Type III
- How many people
- 30 participants
- Where
- 1 siteCanada
- Study dates
- 1 Jun 2020to 31 May 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- 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.
Who cannot join
- 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"
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Natural History of Morquio B and Late-Onset GM1 Gangliosidosis
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.
Read the 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 data on patients diagnosed with Morquio B. Because of significant overlap in clinical presentation, patients with late-onset GM1 will also be included.
Upon consent, data from clinical, laboratory, functional and quality of life studies, and data from review of medical records will be collected and analyzed descriptively. In addition, the samples of blood, urine and fibroblasts will be collected and stored at BC Children Hospital Research Institute Biobank for future research. The prospective follow up will include two clinic visits, one year apart. The following data will be collected during the prospective observational part of the study (as per study protocol) and retrospective part (whether such data are available from the medical chart):
- Medical history: Morquio B / Late-onset GM1 gangliosidosis diagnosis, presentation, treatments and symptom progression
- Physical exam, including neurological and ophthalmological assessments
- Standard Grip Strength Evaluation
- Range of motion
- Six-minute walk test (6MWT)
- 3-Minute Stair Climb Test
- Gait and Motion assessment
- Pulmonary function testing
- Hearing test
- Echocardiography
- EKG
- X-ray (lumbar spine, upper \& lower limbs, hip)
- DXA scan
- Brain MRI
- Laboratory tests (GAGs assay and pro-inflammatory cytokine panel)
- Blood, urine and fibroblast samples for biobanking
- Genetic test (if not done per standard of care)
Additional assessments and evaluations:
- Patient-reported outcomes: quality of life SF-36, MPS HAQ and the interview on personally meaningful outcomes
- Conditions
- Morquio B Disease, GM1 Gangliosidosis Type III
- Medical subject headings
- Mucopolysaccharidosis IV, Gangliosidosis, GM1
What is being measured
The primary outcome is the main question the study is designed to answer.
Physical Development
Height
Measured: Through study completion, an average of 1 year
Physical Development
Weight
Measured: Through study completion, an average of 1 year
Physical Development
Growth rate
Measured: Through study completion, an average of 1 year
Physical Endurance
6MWT
Measured: 1 year
Physical Endurance
3MSCT
Measured: 1 year
Physical Endurance
Standard Grip Strength evaluation
Measured: 1 year
Range of Motion Scale
Assessments: shoulder, elbow, wrist, hip, knee, ankle
Measured: 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
Measured: Through study completion, an average of 1 year
CNS involvement
Neurological assessments, Brain MRI
Measured: Through study completion, an average of 1 year
Surrogate biomarkers
Glycosaminoglycans (GAGs): keratan sulfate, heparan sulfate, dermatan sulfate, chondroitin-6-sulfate
Measured: Baseline and 1 year
Surrogate biomarkers
Comprehensive pro-inflammatory cytokine panel with markers of bone turnover
Measured: Baseline and 1 year
Health-related Quality of Life (HRQoL)
SF-36
Measured: Baseline and 1 year
Health-related Quality of Life (HRQoL) and Activities of Daily living (ADLs)
MPS-HAQ
Measured: Baseline and 1 year
Personally Meaningful Outcomes
PMO Questionnaire
Measured: Baseline and 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Mar 2020
- Study start1 Jun 2020 (estimated)
- Primary completion31 May 2021 (estimated)
- Study completion31 May 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Morquio B DiseaseStudies of the same condition, open and under way.
- More trials run by University of British ColumbiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of British Columbia
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Sylvia Stockler, University of British Columbia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04320329
- Sponsor's protocol ID
- H18-00155
- Status last verified
- Apr 2020
- First submitted
- 17 Mar 2020
- Last updated
- 30 Apr 2020
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Morquio B and Late-Onset GM1 Gangliosidosis
- ClinicalTrials.gov ID
- NCT04320329
- Acronym / sponsor ID
- H18-00155
- Conditions
- Morquio B Disease, GM1 Gangliosidosis Type III
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- University of British ColumbiaUniversity, hospital or other
- Collaborators
- Hospital de Clinicas de Porto Alegre, Medical University of Graz
- Study start
- 1 Jun 2020 (estimated)
- Primary completion
- 31 May 2021 (estimated)
- Study completion
- 31 May 2022 (estimated)
- First posted
- 25 Mar 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 data on patients diagnosed with Morquio B. Because of significant overlap in clinical presentation, patients with late-onset GM1 will also be included.
Upon consent, data from clinical, laboratory, functional and quality of life studies, and data from review of medical records will be collected and analyzed descriptively. In addition, the samples of blood, urine and fibroblasts will be collected and stored at BC Children Hospital Research Institute Biobank for future research. The prospective follow up will include two clinic visits, one year apart. The following data will be collected during the prospective observational part of the study (as per study protocol) and retrospective part (whether such data are available from the medical chart):
- Medical history: Morquio B / Late-onset GM1 gangliosidosis diagnosis, presentation, treatments and symptom progression
- Physical exam, including neurological and ophthalmological assessments
- Standard Grip Strength Evaluation
- Range of motion
- Six-minute walk test (6MWT)
- 3-Minute Stair Climb Test
- Gait and Motion assessment
- Pulmonary function testing
- Hearing test
- Echocardiography
- EKG
- X-ray (lumbar spine, upper \& lower limbs, hip)
- DXA scan
- Brain MRI
- Laboratory tests (GAGs assay and pro-inflammatory cytokine panel)
- Blood, urine and fibroblast samples for biobanking
- Genetic test (if not done per standard of care)
Additional assessments and evaluations:
- Patient-reported outcomes: quality of life SF-36, MPS HAQ and the interview on personally meaningful outcomes
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (5 listed)
- 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"
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Physical Development
Time frame: Through study completion, an average of 1 year
Height
Physical Development
Time frame: Through study completion, an average of 1 year
Weight
Physical Development
Time frame: Through study completion, an average of 1 year
Growth rate
Physical Endurance
Time frame: 1 year
6MWT
Physical Endurance
Time frame: 1 year
3MSCT
Physical Endurance
Time frame: 1 year
Standard Grip Strength evaluation
Range of Motion Scale
Time frame: Through study completion, an average of 1 year
Assessments: shoulder, elbow, wrist, hip, knee, ankle
Skeletal involvement
Time frame: Through study completion, an average of 1 year
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
CNS involvement
Time frame: Through study completion, an average of 1 year
Neurological assessments, Brain MRI
Surrogate biomarkers
Time frame: Baseline and 1 year
Glycosaminoglycans (GAGs): keratan sulfate, heparan sulfate, dermatan sulfate, chondroitin-6-sulfate
Surrogate biomarkers
Time frame: Baseline and 1 year
Comprehensive pro-inflammatory cytokine panel with markers of bone turnover
Health-related Quality of Life (HRQoL)
Time frame: Baseline and 1 year
SF-36
Health-related Quality of Life (HRQoL) and Activities of Daily living (ADLs)
Time frame: Baseline and 1 year
MPS-HAQ
Personally Meaningful Outcomes
Time frame: Baseline and 1 year
PMO Questionnaire
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2020.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Morquio B Disease and GM1 Gangliosidosis Type III, run by University of British Columbia at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 30 Apr 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Nataliya Yuskiv, Dr (6048752000 ext. 6399, nyuskiv@cw.bc.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Physical Development (time frame: Through study completion, an average of 1 year). The study lists 14 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Apr 2020.