CompletedNot Applicable

Biomarker Development in LGMD2i

United States, Denmark101 participantsStarted 2019-12-01

Plain-language 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.

Who can participate

Age range

10 Years – 65 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 Exclusion Criteria: * 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

10-Meter walk (10 MWT) -mobility

Timeframe: Through study completion at 12 months

100-Meter Timed Test (100m) - mobility

Timeframe: Through study completion at 12 months

NSAD- Motor performance

Timeframe: Through study completion at 12 months

Timed up-and-go (TUG) - mobility

Timeframe: Through study completion at 12 months

FVC - Pulmonary function

Timeframe: Through study completion at 12 months

Timed 4 stair Climb (4SC) - mobility

Timeframe: Through study completion at 12 months

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

Timeframe: Through study completion at 12 months

Trial details

NCT IDNCT04202627

SponsorML Bio Solutions, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2022-10-10

View on ClinicalTrials.gov More Muscular Dystrophies trials

Who can participate

Age range

10 Years – 65 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

10-Meter walk (10 MWT) -mobility

Timeframe: Through study completion at 12 months

100-Meter Timed Test (100m) - mobility

Timeframe: Through study completion at 12 months

NSAD- Motor performance

Timeframe: Through study completion at 12 months

Timed up-and-go (TUG) - mobility

Timeframe: Through study completion at 12 months

FVC - Pulmonary function

Timeframe: Through study completion at 12 months

Timed 4 stair Climb (4SC) - mobility

Timeframe: Through study completion at 12 months

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

Timeframe: Through study completion at 12 months