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Muscular DystrophiesMLB-01-001NCT04202627

Biomarker Development in LGMD2i

An observational study of Muscular Dystrophies and Limb Girdle Muscular Dystrophy, run by ML Bio Solutions, Inc. at 11 sites in 2 countries.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

The overall goal of this natural history study is to define the key LGMD2i phenotypes as measured by standard clinical outcome assessments (COAs), and to validate a muscle biomarker for LGMD2i to support therapeutic development. Read more about this study

Who is it for?
Ages 10 to 65 years
How many people
101 participants
Where
11 sitesin 2 countries
Study dates
1 Dec 2019to 10 Oct 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 10 to 65 years
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: Study participants will be identified through self-selection and direct recruitment options. Participants will be identified from the population of individuals who are followed at the neuromuscular clinics. Participants will also be solicited from the Global FKRP registry.

Who may be able to join

  • Age between 10-65 at enrollment
  • Clinically affected (defined as weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)
  • A genetically confirmed mutation in FKRP (LGMD2i)
  • Willing and able to give informed consent and follow all procedures and requirements

Who cannot join

  • Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.
  • History of a bleeding disorder, platelet count <50,000, current use of an anticoagulant.
  • Positive pregnancy test
  • A 10-meter walk time of <4 seconds

Trial locations and contacts

11 sites in 2 countries.

11 sites in 2 countries

United States10 sites

  • University of Colorado Anschutz Medical Campus

    Aurora, Colorado, 80045

  • Kennedy Krieger Institute

    Baltimore, Maryland, 21205

  • Atrium Health

    Charlotte, North Carolina, 28207

  • Nationwide Children's Hospital

    Columbus, Ohio, 43205

  • University of Florida

    Gainesville, Florida, 32610

  • University of Iowa

    Iowa City, Iowa, 52242

  • University of California Irvine

    Irvine, California, 92697

  • University of Kansas Medical Center

    Kansas City, Kansas, 66160

  • Virginia Commonwealth University

    Richmond, Virginia, 23298

  • Washington University School of Medicine

    St Louis, Missouri, 63110

Other trials in United States

Denmark1 site

  • Copenhagen Neuromuscular Center

    Copenhagen

Other trials in Denmark

About this study

The overall goal of this natural history study is to define the key LGMD2i phenotypes as measured by standard clinical outcome assessments (COAs), and to validate a muscle biomarker for LGMD2i to support therapeutic development.

Read the detailed description

Limb Girdle Muscular Dystrophy (LGMD) 2i is an autosomal recessive form of LGMD that is due to missense mutations in the Fukutin-related protein (FKRP) gene. Patients develop progressive proximal muscle weakness that leads to loss of ambulation. Patients will also commonly develop a cardiomyopathy and respiratory compromise.

There are promising new therapies that have been developed and as a result therapeutic trials are approaching.

The rationale for this study is to define appropriate COAs for LGMD2i, which will facilitate therapeutic development and ensure properly powered clinical trials. In addition, measurement of dystroglycan in muscles represents a potential muscle biomarker that could be used in early phase clinical trials as a measure of target engagement. The clinical utility of changes in dystroglycan has not been validated in human samples.

Keywords
LGMD, FKRP, Clinical Research, ML Bio Solutions, Limb Girdle Muscular Dystrophy, Limb girdle muscular dystrophy type R9 (LGMD R9), LGMD2i
Medical subject headings
Muscular Dystrophies, Muscular Dystrophies, Limb-Girdle, Muscular Dystrophy, Limb-Girdle, Type 2I

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 10-Meter walk (10 MWT) -mobility

    The 10 MWT will be used to determine the ambulatory Cohort for of all subjects. For the purposes of this study, the definitions for ambulation are as follows:

    • Cohort A: completes the 10 MWT unaided in ≥ 4 to ≤ 12 seconds
    • Cohort B: completes the walk unaided in > 12 seconds or is non-ambulatory

    Measured: Through study completion at 12 months

  2. 100-Meter Timed Test (100m) - mobility

    The 100m timed test is designed to capture maximal ambulatory capacity. The participant will be asked to complete 4 full laps around 2 cones set 25 meters apart as quickly and as safely as possible, including running if able. This will not be assessed in participants with a 10-meter walk time greater than 12 seconds.

    Measured: Through study completion at 12 months

  3. NSAD- Motor performance

    North Star Assessment for Dysferlinopathy (NSAD) is a functional scale specifically designed to measure motor performance in individuals with LGMD. It consists of 29 items that are considered clinically relevant items from the North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54 and higher scores indicate higher functional abilities.

    Measured: Through study completion at 12 months

  4. Timed up-and-go (TUG) - mobility

    The TUG is an assessment used to evaluate functional ambulation, balance, and fall risk. The fastest time to rise from a chair, walk 3 meters, and return to sitting independently without an assistive device will be recorded. This will not be assessed in Cohort B participants.

    Measured: Through study completion at 12 months

  5. FVC - Pulmonary function

    The total amount of air exhaled during the forced expiratory volume test (Forced vital capacity - FVC) will be assessed in a sitting position only.

    Measured: Through study completion at 12 months

  6. Timed 4 stair Climb (4SC) - mobility

    The 4SC quantifies the time required for the participant to ascend 4 standard steps. This will not be assessed in participants with a 10 meter walk time greater than 12 seconds.

    Measured: Through study completion at 12 months

  7. 9 Hole Peg Test (9HPT) - distal upper extremity function

    The 9HPT is a quantitative measure of distal upper extremity function. It measures the time required for patients to place 9 pegs in the 9 holes on the board and then remove them as quickly as possible.

    Measured: Through study completion at 12 months

  8. Performance of Upper Limb (PUL 2.0) - limb function

    The PUL is a tool designed for assessing upper limb function in persons with neuromuscular disorders. It was developed as a conceptual framework reflecting the progression of weakness and natural history of functional decline in Duchenne muscular dystrophy (DMD). There are 22 scored items; a score of 42 indicates the highest level of independent function and 0 the lowest.

    Measured: Through study completion at 12 months

  9. Hand Held Dynamometry (HHD) - isometric strength

    HHD using the MicroFET2 myometer will be utilized to capture isometric strength in target muscle groups. Maximum strength in kilograms will be reported for each muscle group provided a continuous scale variable for analysis.

    Measured: Through study completion at 12 months

Secondary outcomes (1)

  1. To develop clinical outcome assessments for LGMD2i

    To determine the sensitivity of the COAs to longitudinal disease progression

    Measured: Through study completion at 12 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted17 Dec 2019
  2. Study start1 Dec 2019
  3. Primary completion10 Oct 2022
  4. Study completion10 Oct 2022

Resources

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
Other
Enrolment
101 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04202627
Sponsor's protocol ID
HM20018755
Acronym
MLB-01-001
Status last verified
Mar 2023
First submitted
11 Dec 2019
Last updated
29 Mar 2023
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Vissing J, Mozaffar T, Johnson NE, Mathews KD, Wicklund MP, Weihl C, Leung DG, Statland JM, Kang PB, Zingariello CD, Lowes LP, Desai U, Bates K, Alfano LN, Xie H, St Romain J, Blankenbiller T, McLendon G, Rajasingham T, Heitzer M, Wu-Zhang AX, Tripp K, Rodriguez HM, Sproule D; as the GRASP-LGMD Consortium. Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9. Neurol Genet. 2026 Apr 1;12(2):e200370. doi: 10.1212/NXG.0000000000200370. eCollection 2026 Apr.

    PubMed 41938495

Questions about this trial

What is this clinical trial studying?

An observational study of Muscular Dystrophies and Limb Girdle Muscular Dystrophy, run by ML Bio Solutions, Inc. at 11 sites in 2 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 4 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 29 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 11 sites in United States, Denmark. 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?

10-Meter walk (10 MWT) -mobility (time frame: Through study completion at 12 months). 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?

On the ClinicalTrials.gov record for NCT04202627, which also lists 1 linked publication.

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 29 Mar 2023.

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