LGMDNCT04989751
A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China
An observational study of LGMD and LGMDR2, run by Huashan Hospital at 1 site in China.
Trial summary
Limb-girdle muscular dystrophies (LGMD) are a series of rare progressive genetic disorders that are characterized by wasting and weakness of the voluntary proximal muscles. The onset of the disease is usually at young age, and most patients will be wheelchair-bound due to the progressive deterioration. Read more about this study
- Who is it for?
- Ages 10 years and older
- What is being tested?
- Electromyography and IDEAL MRI
- How many people
- 450 participants
- Where
- 1 siteChina
- Study dates
- 7 Jul 2021to 1 Dec 2026
- How long will I take part?
- 8 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 10 years and older
- All sexes
- Child, Adult, Older adult
Study population: The patients are mainly from neuromuscular diagnostic centers that participat this study in China.
Who may be able to join
- Identified with variants regarding LGMD related genes revealed by genetic sequencing
- Progressive weakness involving shoulder girdle and/or pelvic girdle
- Myopathic changes in electromyography or in pathological studies
Who cannot join
- Identified with variants in other genes (non-LGMD related) that may cause muscular dystrophies
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
Limb-girdle muscular dystrophies (LGMD) are a series of rare progressive genetic disorders that are characterized by wasting and weakness of the voluntary proximal muscles. The onset of the disease is usually at young age, and most patients will be wheelchair-bound due to the progressive deterioration. Since currently genetic therapies for this disease are still immature, better natural history and genotype-phenotype studies are needed for preparing future therapies.
Read the detailed description
This is multicentered-based, prospective, and observational study, which mainly focuses on the diagnosis and progression of limb-girdle muscular dystrophies (LGMD) in China. the investigators collect patient data including basic information, strength evaluations, genetic data, electromyography results, pathology imaging from muscle biopsies, and MRIs. Previously collected patient data may also be enrolled in this study.
- Being tested
- Electromyography, IDEAL MRI
- Keywords
- Observational
- Medical subject headings
- Limb-girdle muscular dystrophy, type 2B, Limb-girdle muscular dystrophy type 2A
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ElectromyographyDiagnostic test
Electromyography (EMG) would be used at the baseline for dignoisis and furtue analysis.
IDEAL MRIDiagnostic test
Muscle-speciifc sequences (e.g. IDEAL) would be used to scan patients at baseline and follow-up stages to characterize the fat fraction and atrophy in different muscles.
| Study group | Role | What they receive |
|---|---|---|
| LGMD patients | Not described Receives: Diagnostic Test: Electromyography; Diagnostic Test: IDEAL MRI |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in NSAA score
The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale with a score range of 0-34. It is used to measure the functional motor abilities of ambulant patients with muscular dystrophy. A lower NSAA score indicates more severe damage to the participant's motor capability.
Measured: Baseline, Year 1, Year 3, Year 5
Secondary outcomes (3)
Changes in muscle fat infiltration
The muscle-specific fat fraction can be calculated with special MRI sequences such as IDEAL or Dixon in the region of interest. An deep-learning based tool is applied to segment individual muscles.
Measured: Baseline, Year 3, Year 5
Changes in 6 Minute Walk Test
The 6-Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered in 6 minutes serves as the outcome for comparing changes in performance capacity.
Measured: Baseline, Year 3, Year 5
Changes in 10 Metre Walk Test (10MWT)
The 10 Metre Walk Test is a performance measure used to assess walking speed in meters per second over a short distance. It can be employed to determine functional mobility, gait, and vestibular function
Measured: Baseline, Year 3, Year 5
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Aug 2021
- Study start7 Jul 2021
- Primary completion1 Jul 2026 (estimated)
- Study completion1 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LGMDStudies of the same condition, open and under way.
- More trials run by Huashan HospitalThe 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
- 450 participants (estimated)
- Target duration
- 8 Years
Sponsor and investigators
- Lead sponsor
- Huashan Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Chongbo Zhao, Huashan Hospital
- Investigators
- Chongbo Zhao, PhD, Study director, Huashan Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04989751
- Sponsor's protocol ID
- KY2019-409
- Status last verified
- Oct 2023
- First submitted
- 2 Aug 2021
- Last updated
- 24 Oct 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
- ClinicalTrials.gov ID
- NCT04989751
- Acronym / sponsor ID
- KY2019-409
- Keywords
- Observational
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 450 participants (estimated)
- Lead sponsor
- Huashan HospitalUniversity, hospital or other
- Study start
- 7 Jul 2021 (actual)
- Primary completion
- 1 Jul 2026 (estimated)
- Study completion
- 1 Dec 2026 (estimated)
- First posted
- 4 Aug 2021 (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.
Limb-girdle muscular dystrophies (LGMD) are a series of rare progressive genetic disorders that are characterized by wasting and weakness of the voluntary proximal muscles. The onset of the disease is usually at young age, and most patients will be wheelchair-bound due to the progressive deterioration. Since currently genetic therapies for this disease are still immature, better natural history and genotype-phenotype studies are needed for preparing future therapies.
Detailed description
This is multicentered-based, prospective, and observational study, which mainly focuses on the diagnosis and progression of limb-girdle muscular dystrophies (LGMD) in China. the investigators collect patient data including basic information, strength evaluations, genetic data, electromyography results, pathology imaging from muscle biopsies, and MRIs. Previously collected patient data may also be enrolled in this study.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 8 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| LGMD patients | – | Diagnostic Test: Electromyography, Diagnostic Test: IDEAL MRI |
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- The patients are mainly from neuromuscular diagnostic centers that participat this study in China.
Key inclusion criteria (3 listed)
- Identified with variants regarding LGMD related genes revealed by genetic sequencing
- Progressive weakness involving shoulder girdle and/or pelvic girdle
- Myopathic changes in electromyography or in pathological studies
Key exclusion criteria (1 listed)
- Identified with variants in other genes (non-LGMD related) that may cause muscular dystrophies
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ElectromyographyElectromyography (EMG) would be used at the baseline for dignoisis and furtue analysis. | Diagnostic test | LGMD patients |
| IDEAL MRIMuscle-speciifc sequences (e.g. IDEAL) would be used to scan patients at baseline and follow-up stages to characterize the fat fraction and atrophy in different muscles. | Diagnostic test | LGMD patients |
Primary outcome
Changes in NSAA score
Time frame: Baseline, Year 1, Year 3, Year 5
The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale with a score range of 0-34. It is used to measure the functional motor abilities of ambulant patients with muscular dystrophy. A lower NSAA score indicates more severe damage to the participant's motor capability.
3 secondary outcomes
Changes in muscle fat infiltration
Time frame: Baseline, Year 3, Year 5
Changes in 6 Minute Walk Test
Time frame: Baseline, Year 3, Year 5
Changes in 10 Metre Walk Test (10MWT)
Time frame: Baseline, Year 3, Year 5
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Oct 2023.
Related trials for LGMD
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Study of BBP-418 in Patients With LGMD2I
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LGMD R1 Natural History Study
Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, Limb Girdle Muscular Dystrophy
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A Gene Transfer Single Dose Study to Evaluate the Safety, Tolerability and Efficacy of SRP-9003 in Non-Ambulatory and Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2E/R4 (Beta-Sarcoglycan [β-SG] Deficiency)
Limb Girdle Muscular Dystrophy
RecruitingObservational study
Long-Term Development of Muscular Dystrophy Outcome Assessments
LGMD1B, LGMD1C
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.
Chongbo Zhao, PhD study director
Huashan Hospital
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 LGMD and LGMDR2, run by Huashan Hospital at 1 site in China.
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 1 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: enrolling by invitation, as of the sponsor's last update on 24 Oct 2023. 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 China. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes in NSAA score (time frame: Baseline, Year 1, Year 3, Year 5). 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 24 Oct 2023.