Plans are now underway to create a Patient Registry for Centronuclear / Myotubular Myopathy. The Registry will be a database of very basic patient information which will allow, when the time comes, efficient, fast track, local, clinical trials of new treatments in Europe.

It is envisaged the registry will take the form of an electronic database that will:

• Encourage development of more research.
• Provide neuromuscular researchers with specific patient information to assist their research.
• Help with new clinical trials in Europe.
• Enhance clinicians' and other health professionals' ability to efficiently deliver treatments for this disease.

The database will be built to be compatible with a generic database that has been developed for other more common neuromuscular disorders.

Dr Heinz Jungbluth, Senior Lecturer and Consultant in Paediatric Paediatric Neurologist in charge of the Neuromuscular Service at the Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London has been appointed as a co-ordinator and will liaise with other leading European academics in this field to ensure the robustness of the patient registry.

A nurse administrator will also be enlisted to liaise with patients and their clinicians to collect and input the data, so that the information is consistent and an ethical steering group is to be established to control the release of data to interested researchers.

The registry will be put together by the Myotubular Trust working in partnership with TREAT-NMD (Translational Research in Europe - Assessment and Treatment of Neuromuscular Diseases), a European neuromuscular network addressing the fragmentation currently hindering translational research for cutting edge therapies in rare neuromuscular diseases (NMD) and will be funded by Jeans for Genes, a UK charity which raises money to fund care and support for children and their families affected by genetic disorders and funds research into the causes and cures of these disorders.

For further information about the registry, read our June 2008 newsletter or visit the Jeans for Genes website.

Pre-register here for the Patient Registry.