LGMD2INCT03842878
Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I
An observational study of LGMD2I, run by Genethon at 3 sites in 3 countries.
Trial summary
Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months. Read more about this study
- Who is it for?
- Ages 16 to 99 years
- Conditions the study is for
- LGMD2I
- How many people
- 52 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 19 Feb 2020to 14 Dec 2023
- 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 16 to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Female and male patients ≥ 16 years old
Who may be able to join
- Female and male patients
- Patients ≥ 16 years old
- Clinical diagnosis of LGMD2I and gene testing demonstrating two pathogenic mutations in fukutin-related protein gene, FKRP)
- Ambulant patients
Who cannot join
- 1. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
About this study
Official title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I
Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.
Read the detailed description
Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years
Study objectives Primary objective:
To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using standardized and disease appropriate evaluations.
Secondary objectives:
To identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2I To identify the best outcome measure for further therapeutics approaches
- Conditions
- LGMD2I
- Medical subject headings
- Muscular Dystrophy, Limb-Girdle, Type 2I
What is being measured
The primary outcome is the main question the study is designed to answer.
6-Minute Walk Test
Primary endpoint
Measured: Baseline through 24 months
10-Meter Walk test (10MWT)
Primary endpoint
Measured: Baseline through 24 months
Timed Up and Go (TUG) test
Primary endpoint
Measured: Baseline through 24 months
Four-stair climb test
Primary endpoint
Measured: Baseline through 24 months
North Star Assessment for Neuromuscular Disorders (NSAD)
Scale to assess patient's abilities necessary to remain functionnaly ambulant
Measured: Baseline through 24 months
Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0
Primary endpoint
Measured: Baseline through 24 months
Recording of aids for ambulation
Primary endpoint
Measured: Baseline through 24 months
Isokinetic muscle testing using the Biodex System (optional)
Primary endpoint
Measured: Baseline through 24 months
Pulmonary function test
Primary endpoint
Measured: Baseline through 24 months
Electrocardiogram
Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Measured: Baseline through 24 months
Echocardiography
Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
Measured: Baseline through 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Feb 2019
- Study start19 Feb 2020
- Primary completion14 Dec 2023
- Study completion14 Dec 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LGMD2IStudies of the same condition, open and under way.
- 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
- 52 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genethon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- John Vissing, PR, Principal investigator, Professor of neurology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03842878
- Sponsor's protocol ID
- GNT-015-FKRP
- Status last verified
- Jun 2024
- First submitted
- 13 Feb 2019
- Last updated
- 12 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 12 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I
- ClinicalTrials.gov ID
- NCT03842878
- Acronym / sponsor ID
- GNT-015-FKRP
- Conditions
- LGMD2I
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 52 participants (actual)
- Lead sponsor
- GenethonUniversity, hospital or other
- Study start
- 19 Feb 2020 (actual)
- Primary completion
- 14 Dec 2023 (actual)
- Study completion
- 14 Dec 2023 (actual)
- First posted
- 15 Feb 2019 (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.
Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.
Detailed description
Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years
Study objectives Primary objective:
To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using standardized and disease appropriate evaluations.
Secondary objectives:
To identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2I To identify the best outcome measure for further therapeutics approaches
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 16 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Female and male patients ≥ 16 years old
Key inclusion criteria (4 listed)
- Female and male patients
- Patients ≥ 16 years old
- Clinical diagnosis of LGMD2I and gene testing demonstrating two pathogenic mutations in fukutin-related protein gene, FKRP)
- Ambulant patients
Key exclusion criteria (1 listed)
- 1. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history
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
6-Minute Walk Test
Time frame: Baseline through 24 months
Primary endpoint
10-Meter Walk test (10MWT)
Time frame: Baseline through 24 months
Primary endpoint
Timed Up and Go (TUG) test
Time frame: Baseline through 24 months
Primary endpoint
Four-stair climb test
Time frame: Baseline through 24 months
Primary endpoint
North Star Assessment for Neuromuscular Disorders (NSAD)
Time frame: Baseline through 24 months
Scale to assess patient's abilities necessary to remain functionnaly ambulant
Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0
Time frame: Baseline through 24 months
Primary endpoint
Recording of aids for ambulation
Time frame: Baseline through 24 months
Primary endpoint
Isokinetic muscle testing using the Biodex System (optional)
Time frame: Baseline through 24 months
Primary endpoint
Pulmonary function test
Time frame: Baseline through 24 months
Primary endpoint
Electrocardiogram
Time frame: Baseline through 24 months
Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Echocardiography
Time frame: Baseline through 24 months
Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Feb 2026.
- Individual participant dataSharing planned: Undecided
Related trials for LGMD2I
Active, not recruitingPhase 3
Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)
Limb-Girdle Muscular Dystrophy Type 2I (LGMD2I)
Active, not recruitingPhase 1/2
A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
Limb Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2
Active, not recruitingPhase 2
Study of BBP-418 in Patients With LGMD2I
LGMD2I
Active, not recruitingPhase 3
Open-Label Extension Study of BBP-418 (Ribitol) for LGMD2I/R9
Limb-Girdle Muscular Dystrophy Type 2I (LGMD2I)
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. This study is not recruiting at the moment.
John Vissing, PR principal investigator
Professor of neurology
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of LGMD2I, run by Genethon at 3 sites in 3 countries.
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 4 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: finished, as of the sponsor's last update on 12 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Denmark, France, United Kingdom. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
6-Minute Walk Test (time frame: Baseline through 24 months). The study lists 11 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 12 Feb 2026.