Title of study : Next generation sequencing to identify novel genes implicated in centronuclear myopathies and other congenital myopathies

Purpose of Study: For any disease or condition and including the Myotubular and Centronuclear Myopathies, the identification of the mutation is the most important first step for genetic counseling and therapies. Over recent years, there has been a discovery of several genes causing Myotubular and Centronuclear Myopathy, including MTM1, DNM2, BIN, however, the causative mutations in half of patients are still unknown.

This project, funded by Myotubular Trust, uses a new “high-throughput” gene sequencing approach and aims to help patients who have not been able to find out which genes have caused their form of centronuclear myopathy to identify the exact mutation.

The project, which will be run by Dr Jocelyn Laporte, Dr Johann Böhm and colleagues in the department of Translational Medicine at IGBMC in France, will use next generation sequencing to identify novel genes implicated in centronuclear myopathies.

Knowing the exact mutation has many benefits, including the first step to providing accurate genetic counseling, to improve health care and disease management and to identify novel drug targets that may be more accessible for therapeutic development. This knowledge is often required for the inclusion into specific clinical trials.

Because the patient testing will form part of this important research project, it is being offered free of charge for any patient who wishes to find out their mutation, but on the basis that the researchers cannot guarantee a positive result or time frame.

So to summarize:

  • The analysis is free of charge for the patients as it is on a research basis
  • They do not guarantee a positive result or a time frame
  • As they analyze all genes, they may find gene variations associated with additional medical conditions (that have nothing to do with the muscle disease). The patients will be informed about these gene variations only in case of a direct benefit for the patient and based on current medical knowledge.

Eligibility (Inclusion/Exclusion criteria) People who have a diagnosis of centronuclear myopathy and have no confirmed genetic diagnosis are candidates to participate in this study. The analysis is proposed to patients for whom mutations in known genes has been excluded.

Travel Arrangements: No direct travel is necessary. Sending in a DNA sample is required. Contact the investigator for a collection kit and details.

Contact Information:

Dr. Johann Böhm
IGBMC
1, Rue Laurent Fries
67404 Illkirch
France

johann@igbmc.fr

Phone : 33 (0)388653415 (office)

Download an INSERM consent form here: Consent Form (PDF) / Consent Form (word document)