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A study to understand the early stages of muscle weakness in people with Dysferlinopathy (a type of limb girdle muscular dystrophy)

This study focuses on Dysferlinopathy, a rare muscle weakening condition also known as LGMDR2. It often starts in teenage years or early adulthood, but some people are diagnosed before symptoms appear. Scientists want to understand the very early changes in the body that happen with this condition. This knowledge could lead to better ways to diagnose and treat it in the future. If you have been diagnosed with a specific gene change (DYSF gene) linked to Dysferlinopathy and have no or very mild symptoms, you might be able to take part. The study involves yearly visits for up to five years, where you'll have physical checks, muscle strength tests, walking assessments, MRI scans, and answer questions about your daily life. You'll also provide blood and urine samples.

Överblick

Status
Rekrytering
Sponsor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Inskrivningsmål
20
Starta
07 Jul 2025
Beräknad slutförande
31 dec 2029
Limb Girdle Muscular Dystrophy R2 (LGMDR2, Dysferlinopathy)

Vad handlar denna studie om?

This study is all about understanding the very early stages of a rare condition called Dysferlinopathy, also known as Limb Girdle Muscular Dystrophy R2 (LGMDR2). This inherited condition slowly causes muscles to get weaker over time. Sometimes, people are diagnosed with it through genetic tests even before they notice any symptoms. Because scientists don't yet fully understand what happens in these first stages, this study aims to explore these early changes in the body. The goal is that what they learn will eventually help doctors diagnose people sooner and develop better treatments in the future.

Taking part in this study is a way to contribute to a deeper understanding of Dysferlinopathy. There are no direct treatments given in this study. Instead, it's about gathering information to build a clearer picture of how the condition starts and progresses. This research could be very important for those who live with Dysferlinopathy, as it lays the groundwork for scientific advancements to improve their care and quality of life years down the line.

The study is being run by a team at Newcastle upon Tyne Hospitals NHS Foundation Trust in the UK, with funding from the Jain Foundation in the USA. It's planned to run for several years, from April 2024 to December 2031, showing a long-term commitment to understanding this condition. If you meet the criteria, your participation could make a real difference to future patients.

Viktiga punkter

  • The study investigates the hidden early stages of Dysferlinopathy (LGMDR2).
  • It aims to improve diagnosis and treatment options for the future.
  • Participation involves yearly check-ups, scans, and questionnaires for up to five years.
  • It focuses on people with specific gene changes and no or very mild symptoms.
  • Your contribution helps advance medical understanding without direct personal benefit.
  • Anyone from 4 to 65 years old can participate, regardless of sex.

Vem kan vara berättigad?

This study is looking for people who have received a specific genetic diagnosis. You would need to have changes in your DYSF gene that are known to cause Dysferlinopathy (LGMDR2).

They are particularly interested in individuals who either show no symptoms yet, or who have only very mild symptoms of muscle weakness. This means you should still be able to do things like stand on your tiptoes with both feet and hop. You also need to be able to complete all the different tests and attend the yearly appointments.

There are some reasons why you might not be able to join, such as if you are currently having other medical treatments that might affect the study results, or if you have another health condition that would interfere with your participation. Also, if you are already taking part in another clinical trial that could change how your condition naturally develops, you wouldn't be able to join this one.

Kan denna studie passa dig?

Svara på dessa snabba frågor för att se om du kan vara berättigad. Detta är endast en vägledning — forskarteamet fattar det slutgiltiga beslutet.

  1. I have been told I have changes in my DYSF gene.
  2. My doctors have confirmed I have Dysferlinopathy (LGMDR2).
  3. I have no symptoms, or only very mild ones (I can still stand on tiptoes and hop).
  4. I am between 4 and 65 years old.
  5. I am able to attend yearly visits and complete the study tests.
  6. I am not currently taking part in another clinical trial that affects my condition.
Svara på varje fråga för att se ditt resultat.

Vad innebär deltagande?

If you join this study, you would visit the research centre once a year for up to five years. Each visit will involve several check-ups and assessments. You will have a general physical exam, and your muscle strength and how you move will be tested. There will also be a walking test and special MRI scans to look at your muscles closely. You'll be asked to fill out questionnaires about your daily activities, how tired you feel, any pain you have, and your overall quality of life. Blood and urine samples will also be collected for lab tests.

As an optional extra, you can choose to provide additional samples like blood, skin, or muscle tissue. These would be stored for future research that isn't part of this main study. The study doesn't involve taking any new medications. You can choose to leave the study at any time.

Potentiella risker och fördelar

While there isn't an immediate health benefit to you from taking part, your involvement will greatly help doctors learn more about how Dysferlinopathy starts and changes over time. This vital information could lead to better care and new treatments for people with this condition in the future. The risks of participating are generally low and similar to what you might experience with routine medical checks, such as minor bruising from blood tests or the experience of having an MRI scan. Remember, you are free to withdraw from the study at any time, for any reason.

Platser (1)

Vissa platsangivelser är ungefärliga. Vi arbetar på att förbättra detta — vänligen kontrollera med testteamet innan du reser.
  • The Newcastle upon Tyne Hospitals NHS Foundation Trust
    Endast stad
    Newcastle upon Tyne, England

Vanliga frågor

What is Dysferlinopathy?

It's a rare inherited condition that causes muscles to become weaker over time, also known as LGMDR2.

Varför är denna studie viktig?

It aims to understand the very early stages of the condition, which could lead to better diagnosis and treatments in the future.

Hur länge behöver jag vara involverad?

You would visit the research centre once a year for up to five years.

Kommer jag att få någon ny behandling i denna studie?

No, this study focuses on understanding the condition, not on testing new treatments.

Kan jag sluta delta om jag ändrar mig?

Yes, you can choose to leave the study at any time, for any reason.

Hur du får reda på mer

Heather Hilsden

Heather.Hilsden@newcastle.ac.uk +44 191 241 8635 Officiell rättegångsprotokoll

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