Registry impact and activity

On this page:

Posters

We regularly present registry data in posters at patient or scientific meetings and conferences, to improve understanding of these conditions and raise awareness of the registry. Posters from the last 2 years are available to view below:

 

Reqistry enquiries

Anyone can make a request to use the registry or its data to support their research, and this is called a registry enquiry. Each enquiry is reviewed and voted on by the Registry Steering Committee to check whether it is appropriate, in-line with registry aims, and in the best interests of patients. To proceed, enquiries must be approved by at least two-thirds (67%) of committee members.

Registry enquiries approved to date:

  • Academic: Data on neurological involvement in XLMTM
  • Academic and patient group collaboration: Expansion of registry questionnaires to collect data on liver involvement.
  • Industry: Data on genetically confirmed, living and deceased MTM and CNM patients, examining disease severity by affected gene. 
  • Industry: Data on living and deceased XLMTM patients with genetic confirmation.
  • Academic: Recruitment for a survey on fatigue, social activities, sleep and mood in young people with neuromuscular conditions.
  • Industry: Recruitment for interventional clinical trial.
  • Industry: Recruitment for a survey on wearable devices for motion capture.
  • Academic: Recruitment for a survey on conception, pregnancy and the postpartum period in patients with neuromuscular diseases.
  • Academic: Recruitment for a survey on the impact of swallowing difficulties on individuals with a neuromuscular condition and their carers.
  • Academic: Recruitment for a survey on muscular symptoms of female XLMTM carriers in Europe.
  • Academic: Recruitment for a survey on the use and effects of Acetylcholinesterase Inhibitors (Mestinon) in patients with CNM.
  • Individual patient: Data on patient numbers by causative gene.
  • Academic: Recruitment for a survey to understand the range of experiences of power wheelchair users in cities, towns and on public transport.

 

Publications

The registry has contributed to the following publications: