RecruitingOBSERVATIONAL

LGMD R1 Natural History Study

This study focuses on Limb Girdle Muscular Dystrophy R1, also known as LGMD2A, a condition that causes muscle weakness, especially around the shoulders and hips. Researchers want to understand how this condition progresses naturally over 24 months in 100 participants. They will collect information to help design better clinical trials in the future. This is an observational study, so no new treatments are being tested. The goal is to gather vital information about the disease to prepare for developing potential new therapies, including gene-based treatments. Participants will have regular check-ups and some will have MRI scans during the study, which will last for two years.

At a glance

Status

Recruiting

Sponsor

Virginia Commonwealth University

Enrolment target

100

Start

31 Jan 2024

Estimated completion

01 Aug 2028

Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A Limb Girdle Muscular Dystrophy Limb Girdle Muscular Dystrophy Type R1 LGMD2A

What is this study about?

Limb Girdle Muscular Dystrophy (LGMD) is actually a group of over 30 different genetic conditions that all cause muscle weakness. This weakness typically affects the muscles closest to the body's centre, like those around your shoulders and hips. This specific study is looking at one particular type called Limb Girdle Muscular Dystrophy R1, which is sometimes called LGMD2A. It's caused by a problem with a gene called CAPN3.

People with LGMD R1 experience progressive muscle weakness and wasting. This can eventually make it difficult to walk or even to continue in their jobs. While there are currently no approved treatments for LGMD R1 in the UK, scientists are making exciting progress with new approaches like gene therapy. This study is crucial because it helps to lay the groundwork for these future treatments.

Because new therapies are developing quickly, researchers need a really good understanding of how LGMD R1 affects people naturally over time. This 'natural history' study will help them find ways to track the disease and see if new treatments are working in future clinical trials. It's all about gathering the right information to make sure new drug studies are designed as effectively as possible.

Key takeaways

This study helps understand how LGMD R1 progresses naturally.
No new treatments or medicines will be given in this observational study.
Your participation helps future research and potential treatment development.
It lasts for two years, with four visits to the study site.
Some participants will have MRI scans.
Your medical care is not affected if you decide to withdraw.

Who may be eligible?

To join this study, participants need to be between 12 and 50 years old. You must have clear signs of muscle weakness consistent with LGMD R1. Importantly, your diagnosis of LGMD R1 must be confirmed by a genetic test showing specific changes in the CAPN3 gene.

There are also some reasons why you wouldn't be able to join. For example, if you can't have an MRI scan (perhaps due to certain medical implants or severe claustrophobia), or if you can no longer walk 10 meters without help (aside from ankle supports), you wouldn't be eligible. Pregnant individuals or those with other significant medical conditions that might interfere with the study would also not qualify.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you between 12 and 50 years old?
Do you have signs of muscle weakness consistent with LGMD R1?
Has your LGMD R1 been confirmed by a genetic test for the CAPN3 gene?
Can you walk at least 10 meters without aids (apart from ankle supports)?
Are you able to have an MRI scan (if you are in that subgroup)?
Are you an adult able to provide your own consent to participate?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you'll be involved in the study for a total of 24 months, which is two years. Over this period, you'll have four study visits: two at the very beginning (Baseline Day 1 and Day 2), one after 12 months, and a final one at 24 months. During these visits, researchers will conduct assessments, which might involve physical evaluations to check your muscle strength and movement.

A special note: this is an observational study, meaning no new medication or treatment will be given as part of it. However, a group of 80 participants will also have MRI scans at specific imaging centres to get a detailed look at their muscles. Throughout the study, you'll be asked to comply with all study requirements, and adult participants must be able to give their own consent.

Potential risks and benefits

Taking part in this study won't offer a direct medical benefit as no new treatments are being given. However, your participation will provide invaluable information that will help researchers better understand LGMD R1 and speed up the development of potential future treatments for everyone with the condition. Potential risks are generally low, mainly related to the time commitment for visits and potentially the MRI scans if you are in that subgroup (which have standard risks but will be discussed). You always have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (12)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

University of California, Irvine
Verified postcode
Orange, United States· Recruiting
University of Colorado Anschutz Medical Campus
Verified postcode
Aurora, United States· Recruiting
University of Florida
Verified postcode
Gainesville, United States· Not yet recruiting
The Community Health Clinic, Inc.
Verified postcode
Shipshewana, United States· Recruiting
University of Iowa Hospitals and Clinics
Verified postcode
Iowa City, United States· Recruiting
University of Kansas Medical Center
Verified postcode
Kansas City, United States· Recruiting
University of Minnesota, Department of Neurology
Verified postcode
Minneapolis, United States· Recruiting
Washington University School of Medicine
Verified postcode
St Louis, United States· Recruiting
Nationwide Children's Hospital
Verified postcode
Columbus, United States· Recruiting
Virginia Commonwealth University
Verified postcode
Richmond, United States· Recruiting
Leiden University Medical Center
Verified postcode
Leiden, Netherlands· Not yet recruiting
Newcastle University
Verified postcode
Newcastle upon Tyne, United Kingdom· Not yet recruiting

Common questions

What is an 'observational study'?

It means researchers will observe and collect information about your condition over time, but they won't give you any new medications or treatments. They are just watching how the condition naturally progresses.

Will I receive any treatment for my LGMD R1 during this study?

No, this study does not involve giving any new treatments. It's solely focused on understanding the natural progression of the condition.

How many times will I need to visit the study site?

You will have four study visits over two years: two at the very beginning, one after 12 months, and a final one after 24 months.

What kind of tests will be done during the study?

You'll have physical evaluations; some participants (80 out of 100) will also have MRI scans to look at their muscles in more detail.

Why is this study important if it doesn't offer treatment?

This study is crucial for learning more about how LGMD R1 affects people. This information will help scientists design better clinical trials in the future and speed up the development of new treatments.

How to find out more

Ruby Langeslay

ruby.langeslay@vcuhealth.org 804-828-6318 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.