Neuromuscular Disorders Research Tissue Bank

• Research type

  Research Tissue Bank

• IRAS ID

  277004

• Research summary

  Neuromuscular Disorders Research Tissue Bank

• REC name

  South Central - Berkshire B Research Ethics Committee

• REC reference

  21/SC/0018

• Date of REC Opinion

  15 Jan 2021

• REC opinion

  Favourable Opinion

• Data collection arrangements

  Samples will be from patients and patient relatives with neuromuscular disorders usually related to a disorder of the neuromuscular junction. Samples will be blood, sera, DNA, and occasionally related tissues such as muscle biopsy or thymus, and clinical history data relevant to their disorder. DNA from family members will only be taken in order to establish segregation of a disease allele. DNA will only be screened for sequence variants related to their neuromuscular disorder and not other conditions. Consent will be obtained from patients and relatives when attending clinic or on occasion via telephone followed by consent forms sent through the post. Consent will only be taken by individuals who have been formally trained to take consent. Patient data relevant to their neuromuscular disorder will be stored on a dedicated password-protected database with restricted access.

• Research programme

  Oxford has world leading research teams studying both inherited and autoimmune disorders affecting the neuromuscular junction. The tissue bank will underpin a programme of research aimed at finding new genes that underlie genetic forms of myasthenia and understanding the molecular mechanisms of disease. The clinical data is aimed at defining the natural history of the disorders in order to be able to advise patients on their prognosis and to gain information required prior to the potential application of gene therapy to these disorders. The characteristics of autoimmune disorders of the neuromuscular junction bear many similarities to genetic forms and symptomatic treatments are similar, but clearly they have a very different basic underlying mechanism. The differential diagnosis can be very difficult and it is frequent that autoimmune patients are referred to the genetic clinic. To have information and samples for both forms of myasthenia provides a valuable source of data that can help in research programmes aimed at earlier diagnosis, better treatments, and advice on prognosis.

• Storage license

  12433

• RTBTitle

  Neuromuscular Disorders Research Tissue Bank

• Establishment organisation

  Oxford University Hospitals NHS Foundation Trust

• Establishment organisation address

  Second Floor, OUH Cowley, Unipart House Business Centre, Garsington Road

  Oxford

  OX4 2PG