Finding new genetic mutations responsible for muscular dystrophies

Condition: Muscular dystrophy (General), Duchenne muscular dystrophy, and Facioscapulohumeral muscular dystrophy
Start Date: January 2002
Expected End Date: January 2013
Status: Recruiting
Location of trial: North America

What is the aim of the trial?

This study is an observational study and no new or experimental drugs or treatments will be given to the participants.

The main objective of this study is to find new genetic mutations causing neuromuscular disorders, with a special focus on muscular dystrophies. Hundreds of genetic mutations causing neuromuscular disorders have already been identified. However, specific mutations affecting up to a third of people with muscular dystrophy have not been found yet. Finding the exact mutations causing muscular dystrophy is very important because it allows clinicians to give their patient information about how the condition might progress, allowing them to plan for the future. Family planning advice can also be given and prenatal tests can be developed. Importantly, knowing the gene that is affected helps scientists to understand the mechanism of the disease, which is crucial in the search for efficient treatments.

In this study careful analysis of muscle samples (biopsies) will also give information on the unique characteristics of each of the different muscular dystrophies which will help with diagnosis the future and may help to identify therapeutic targets.

In this study, blood and muscle biopsies from people with muscular dystrophy and blood from close family members will be analysed.

Who can be involved in the trial?

The study aims to recruit adults and children who have received a diagnosis of muscular dystrophy and their close family members. You or your legal guardian must be willing and able to sign a form giving consent to participate in the study. Both males and females of all ages can participate. Healthy volunteers are also accepted.

For more information about how to get involved in trials please read our FAQ.

What happens during the trial?

Participants with a diagnosis of muscular dystrophy are asked to donate medical records, a blood or saliva sample, and a muscle tissue sample, if available. Participating relatives are asked to donate a blood or saliva sample.

Where is the study taking place?

Children’s Hospital, Boston Massachusetts USA. Samples will be collected worldwide and sent to the laboratory in Boston.

How could the results of the trial benefit patients?

The study will help to improve the diagnosis of muscular dystrophy and enable doctors to give patients a specific genetic diagnosis. This will allow the development of diagnostic tests which can be utilised by family members and other people worldwide with the same condition. It may also allow the development of prenatal and pre-implantation genetic diagnostics to prevent passing the condition on to future generations.

Understanding the gene mutation and how this causes muscular dystrophy is also crucial for the development of efficient treatments.

Contact Details:

Elicia A Estrella
Children’s Hospital, Boston
Tel: +1 617 919 4552
Email: elicia.estrella@childrens.harvard.edu

Official name of the Trial:

Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members.

Trial study number:

NCT00390104

Further trial details:

For further information on the trial and detailed inclusion and exclusion please click on the link below. Sometimes these details can be quite technical. If you have any questions please discuss this with your clinician or contact the clinical trial organisers.

http://www.clinicaltrials.gov/show/NCT00390104