Limb-girdle Muscular DystrophyNCT04475926
A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
An observational study of Limb-girdle Muscular Dystrophy, run by Sarepta Therapeutics, Inc. at 26 sites in 10 countries.
Trial summary
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1). Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Limb-girdle Muscular Dystrophy
- How many people
- 205 participants
- Where
- 26 sitesin 10 countries
- Study dates
- 22 Apr 2021to 5 Sep 2030
- 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 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The population for this study is ambulatory or non-ambulatory participants ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
Who may be able to join
- Male or female participant ≥ 4 years of age who demonstrate symptoms of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1 in the opinion of the investigator (eg, muscle weakness, loss of function, delayed milestones).
- Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
Who cannot join
- Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
- Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
- Is participating in other interventional study(ies) at the time of enrollment in this study.
Trial locations and contacts
26 sites in 10 countries.
26 sites in 10 countries
United States11 sites
Anne & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Nationwide Children's Hospital
Columbus, Ohio, 43205
University of Texas Southwestern Medical Center
Dallas, Texas, 75201
University of California San Diego
La Jolla, California, 92037
Arkansas Children's
Little Rock, Arkansas, 72202
Children's Hospital of the King's Daughters
Norfolk, Virginia, 23507
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Barrow Neurological Institute
Phoenix, Arizona, 85013
Oregon Health and Science University
Portland, Oregon, 97068
University of California, Davis Health Dept of PM&R
Sacramento, California, 95817
University of Utah Hospital
Salt Lake City, Utah, 84112
Belgium3 sites
Hôpital Universitaire des Enfants Reine Fabiola
Brussels, 1020
University Hospital Gent
Ghent, Oost-Vlaanderen, 9000
UZ Leuven
Leuven, Vlaams Brabant, 3000
Italy3 sites
Istituto Giannina Gaslini
Genoa, Liguria, 16147
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, 20122
Azienda Ospedale Università Padova
Padova, Veneto, 35129
Germany2 sites
Universitätsklinikum Essen
Essen, North Rhine-Westphalia, D-45147
Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen
Giessen, Hesse, 35392
United Kingdom2 sites
UCL Institute of Child Health & Great Ormond Street Hospital for Children
London, WC1N 1EH
Institute of Genetic Medicine, International Centre for Life
Newcastle upon Tyne, NE1 3BZ
Brazil1 site
Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
Porto Alegre, Rio Grande do Sul, 90035-903
Canada1 site
Children's Hospital - London Health Science Centre
London, Ontario, N6C 2R5
Sweden1 site
Karolinska Universitetssjukhuset Solna
Stockholm, Stockholm County, 17176
About this study
Official title: Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1).
These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 5 years after enrollment for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a North Star Assessment for Dysferlinopathy (NSAD) ≥ 25 at Baseline, up to 3 years for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a NSAD < 25 at Baseline, and up to 3 years for participants with LGMD2A/R1. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.
Read the detailed description
LGMD Type 2A, 2C, and 2D cohorts are now closed. Enrollment in the LGMD Type 2E cohort is closed and participants will be followed for up to five years.
- Conditions
- Limb-girdle Muscular Dystrophy
- Keywords
- North Star Assessment for Dysferlinopathy (NSAD), Performance of Upper Limb (PUL), Pulmonary function tests (PFTs), Ambulatory, Non-Ambulatory, Limb-girdle, LGMD, sarcoglycanopathy, β -sarcoglycan, Muscular Dystrophy, α -sarcoglycan, γ -sarcoglycan, LGMD-2D/R3, LGMD-2E/R4, LGMD-2C/R5, LGMD2A/R1, Clinical Outcomes Assessment
- Medical subject headings
- Muscular Dystrophies, Limb-Girdle, Sarcoglycanopathies, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| LGMD2E/R4 Cohort | Participants with LGMD2E/R4 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. | |
| LGMD2D/R3 Cohort | Participants with LGMD2D/R3 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. | |
| LGMD2C/R5 Cohort | Participants with LGMD2C/R5 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. | |
| LGMD2A/R1 Cohort | Participants with LGMD2A/R1 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. |
What is being measured
The primary outcome is the main question the study is designed to answer.
NSAD Total Score
Measured: Baseline up to Month 60
Time to Rise from the Floor
Measured: Baseline up to Month 60
Time of 10-Meter Walk/Run [10MWR]
Measured: Baseline up to Month 60
Time to Ascend 4 Steps
Measured: Baseline up to Month 60
Ankle Range of Motion (ROM)
Measured: Baseline up to Month 60
Dimension of the Performance of the Upper Limb (PUL)
Measured: Baseline up to Month 60
Timed Up and Go (TUG)
Measured: Baseline up to Month 60
Time of 100-Meter Walk/Run (100MWR)
Measured: Baseline up to Month 60
Pulmonary Function Test: Forced Vital Capacity (FVC)
Measured: Baseline up to Month 60
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jul 2020
- Study start22 Apr 2021
- Primary completion5 Sep 2030 (estimated)
- Study completion5 Sep 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Limb-girdle Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Sarepta Therapeutics, Inc.The 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
- 205 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sarepta Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Sarepta Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04475926
- Sponsor's protocol ID
- SRP-LGMD-501-NHS
- Status last verified
- Nov 2025
- First submitted
- 14 Jul 2020
- Last updated
- 6 Nov 2025
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)
- ClinicalTrials.gov ID
- NCT04475926
- Acronym / sponsor ID
- SRP-LGMD-501-NHS
- Conditions
- Limb-girdle Muscular Dystrophy
- Keywords
- North Star Assessment for Dysferlinopathy (NSAD), Performance of Upper Limb (PUL), Pulmonary function tests (PFTs), Ambulatory, Non-Ambulatory, Limb-girdle, LGMD, sarcoglycanopathy
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 205 participants (actual)
- Lead sponsor
- Sarepta Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 22 Apr 2021 (actual)
- Primary completion
- 5 Sep 2030 (estimated)
- Study completion
- 5 Sep 2030 (estimated)
- First posted
- 17 Jul 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.
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1).
These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 5 years after enrollment for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a North Star Assessment for Dysferlinopathy (NSAD) ≥ 25 at Baseline, up to 3 years for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a NSAD < 25 at Baseline, and up to 3 years for participants with LGMD2A/R1. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.
Detailed description
LGMD Type 2A, 2C, and 2D cohorts are now closed. Enrollment in the LGMD Type 2E cohort is closed and participants will be followed for up to five years.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| LGMD2E/R4 Cohort | – | –Participants with LGMD2E/R4 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. |
| LGMD2D/R3 Cohort | – | –Participants with LGMD2D/R3 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. |
| LGMD2C/R5 Cohort | – | –Participants with LGMD2C/R5 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. |
| LGMD2A/R1 Cohort | – | –Participants with LGMD2A/R1 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The population for this study is ambulatory or non-ambulatory participants ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
Key inclusion criteria (2 listed)
- Male or female participant ≥ 4 years of age who demonstrate symptoms of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1 in the opinion of the investigator (eg, muscle weakness, loss of function, delayed milestones).
- Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
Key exclusion criteria (3 listed)
- Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
- Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
- Is participating in other interventional study(ies) at the time of enrollment in this study.
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
NSAD Total Score
Time frame: Baseline up to Month 60
Time to Rise from the Floor
Time frame: Baseline up to Month 60
Time of 10-Meter Walk/Run [10MWR]
Time frame: Baseline up to Month 60
Time to Ascend 4 Steps
Time frame: Baseline up to Month 60
Ankle Range of Motion (ROM)
Time frame: Baseline up to Month 60
Dimension of the Performance of the Upper Limb (PUL)
Time frame: Baseline up to Month 60
Timed Up and Go (TUG)
Time frame: Baseline up to Month 60
Time of 100-Meter Walk/Run (100MWR)
Time frame: Baseline up to Month 60
Pulmonary Function Test: Forced Vital Capacity (FVC)
Time frame: Baseline up to Month 60
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 6 Nov 2025.
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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.
Medical Director study director
Sarepta Therapeutics, Inc.
26 sites in 10 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Limb-girdle Muscular Dystrophy, run by Sarepta Therapeutics, Inc. at 26 sites in 10 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 2 inclusion and 3 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: under way, not looking for participants, as of the sponsor's last update on 6 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 26 sites in United States, Belgium, Italy, Germany, United Kingdom and 5 more countries. 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?
NSAD Total Score (time frame: Baseline up to Month 60). The study lists 9 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 6 Nov 2025.