Active not recruitingOBSERVATIONAL

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

This study is about understanding how specific types of Limb-girdle Muscular Dystrophy (LGMD2E, LGMD2D, LGMD2C, and LGMD2A) naturally develop over time. Researchers are observing people aged 4 and above who have been diagnosed with these conditions. The goal is to collect information on how their movement and lung function change over several years, helping us learn more about the condition's typical course. Participants are not given any new medications or treatments within this study; instead, researchers simply monitor their health as they continue with their usual care. This type of study provides valuable insights into the condition itself, which can help guide future research and care.

At a glance

Status

Active not recruiting

Sponsor

Sarepta Therapeutics, Inc.

Enrolment target

205

Start

22 Apr 2021

Estimated completion

05 Sep 2030

Limb-girdle Muscular Dystrophy

What is this study about?

This study is called a 'natural history' study. This means that instead of testing a new treatment or medicine, researchers are carefully observing how certain types of Limb-girdle Muscular Dystrophy (LGMD) naturally progress in people over several years. Specifically, they are looking at LGMD types 2E, 2D, 2C, and 2A.

The main aim is to understand how these conditions affect people's ability to move and how well their lungs work. By collecting this information over time, researchers can learn more about the typical journey of these conditions, which can help predict future changes and identify important milestones. This knowledge is crucial for developing better ways to manage the condition and for designing future studies that might test new treatments.

Participants in this study are aged 4 and over and have a confirmed diagnosis of one of these LGMD types. They will be followed for up to 3 to 5 years, depending on their specific condition and how much it affects them at the start. The study also collects information about how long people have experienced symptoms, going back to when their LGMD symptoms first appeared.

Key takeaways

This study observes how specific types of LGMD change over time.
It focuses on ages 4 and above with confirmed LGMD2A, 2C, 2D, or 2E.
No new treatments are given; only existing health and function are monitored.
Data collected will help doctors understand LGMD better for future care.
Participation involves periodic assessments of movement and lung function.
The study lasts for up to 3 to 5 years.

Who may be eligible?

To be part of this study, you need to be at least 4 years old and have symptoms of certain types of Limb-girdle Muscular Dystrophy (LGMD2A, LGMD2C, LGMD2D, or LGMD2E). Importantly, these conditions must be confirmed by a genetic test, meaning the changes in your genes that cause LGMD have been identified.

However, some people might not be able to join. For example, if you have any difficulties with understanding or learning that might make it hard to take part in the study, or if you have another health condition that could interfere with the study's requirements, you might not be eligible. Also, if you're already involved in another study that tests a new treatment, you wouldn't be able to join this one.

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 at least 4 years old?
Do you have symptoms of LGMD that your doctor suspects is LGMD2A, 2C, 2D, or 2E?
Has your LGMD diagnosis been confirmed by a genetic test?
Are you NOT currently part of another clinical study that is testing a new treatment?

Answer every question to see your result.

What does participation involve?

This study does not involve taking any new medications or treatments. Instead, if you join, you would be observed over several years to understand how your condition changes naturally. This means you would likely have regular appointments where researchers would check your mobility (how well you move) and your lung function. These assessments are designed to track your health progress without introducing any experimental therapies.

The follow-up period could last for up to 3 to 5 years, depending on your specific LGMD type and how your condition is at the start of the study. During this time, they will also gather information about your health from when you first started experiencing LGMD symptoms up to the present day. The study aims to fit in with your routine medical care as much as possible.

Potential risks and benefits

Since this study doesn't involve any new medicines or treatments, the direct risks are generally low. The main commitment would be the time required for study visits and assessments. You might find some of the physical tests a bit tiring, but they are standard checks for muscle function. The potential benefit isn't a direct improvement to your health, but your participation will provide invaluable information that helps scientists and doctors better understand LGMD. This knowledge can lead to better care and future treatments for people with these conditions. Remember, you can choose to leave the study at any time, for any reason.

Locations (26)

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

Barrow Neurological Institute
Verified postcode
Phoenix, United States
Arkansas Children's
Verified postcode
Little Rock, United States
University of California San Diego
Verified postcode
La Jolla, United States
University of California, Davis Health Dept of PM&R
Verified postcode
Sacramento, United States
Anne & Robert H. Lurie Children's Hospital of Chicago
Verified postcode
Chicago, United States
Nationwide Children's Hospital
Verified postcode
Columbus, United States
Oregon Health and Science University
Verified postcode
Portland, United States
The Children's Hospital of Philadelphia
Verified postcode
Philadelphia, United States
University of Texas Southwestern Medical Center
Verified postcode
Dallas, United States
University of Utah Hospital
Verified postcode
Salt Lake City, United States
Children's Hospital of the King's Daughters
Verified postcode
Norfolk, United States
University Hospital Gent
Verified postcode
Ghent, Belgium

Common questions

What is a 'natural history' study?

It's a study that observes how a condition changes over time without giving any new treatments. It helps researchers understand the typical course of a disease.

Will I receive any new medicine or treatment in this study?

No, this study does not involve any new medicines or experimental treatments. Researchers will simply observe your condition as you go about your usual routine.

How long will I need to be in the study?

The study will follow participants for up to 3 to 5 years, depending on their specific type of LGMD and their initial health status.

What kind of tests will I have?

You will have regular assessments to check your mobility (how you move) and your lung function. These are non-invasive tests to track your health.

Can I leave the study if I change my mind?

Yes, you can decide to stop participating in the study at any time, for any reason, without it affecting your medical care.