DMD Registry description

The DMD Registry acts as a database for all patients who have been diagnosed with Duchenne or Becker Muscular Dystrophy and female carriers.  Participants are required to give consent before registering and also to complete a Medical Release Form (consent form) to enable Action Duchenne to contact clinicians and geneticists for medical and genetic information.  Participants are also required to read the Terms and Conditions carefully when registering and to ask any questions before making a decision whether or not to participate.

Registration and access is only authorised to people who are registered with a clinician in their country of residence because they have been diagnosed as having either Duchenne or Becker Muscular Dystrophy, are a carrier of a variant in the Dystrophin gene or are the parent or guardian of a child with a variant in the Dystrophin gene.

Purpose of the Registry

  • To develop and encourage the development of more research into Duchenne and Becker Muscular Dystrophy
  • Facilitate research by collecting relevant data and making it available for specified research projects
  • Use the information provided to understand the disease better
  • Establish contact between clinicians, other health professionals, researchers and Registry participants
  • Enhance clinicians’ and other health professionals’ ability to deliver treatments for this disease

Importance of the role

Patient registries are a very important tool in translational research.  When planning a clinical trial, it is important that eligible patients can be found and contacted quickly – particularly in DMD, where many therapies and trials are targeted at specific mutations.  With relatively few patients both eligible and willing to participate in any given trial, international cooperation is critically important.

The UK DMD Registry is part of the TREAT-NMD Global DMD Registry.  National DMD registries from 34 countries contribute a subset of their data into a single international registry.  This holds a standardised set of core clinical information, including full genetic diagnosis, for over 7,000 individuals.  This data is anonymous: personally identifiable information, such as names and addresses, are never uploaded to the Global Registry.

By collecting information, including genetic diagnosis, about more patients than any one national registry could on its own, the Global DMD registry helps researchers plan effective clinical trials and other studies. The UK DMD Registry is an important part of this effort. The role of Genetics DMD Registry Officer is key to curating the current Registry and implementing future data strategies to sustain the utility of the Registry as a translational tool to enable clinical developments in Duchenne.

The Role

Lead the development of Action Duchenne’s patient registry to ensure optimised scope of data, efficient data collection, data analysis and wide data utility and compatibility with co-registries in the UK, planning for the foreseeable future needs of translational research in Duchenne Muscular Dystrophy.

Summary of key tasks

  • Strategically plan and lead the development of the registry with the guidance and support of the DMD Registry Curator
  • As relevant strategically investigating the UK database landscape and strategically develop the database itself in the context of clinical trial recruitment in the UK. Making suggestions to improve current Registry system with new initiatives and proposals
  • Gain an understanding the registry process, then explore and investigate future needs with a view to keeping ahead of research advancements to meet the needs of future researchers
  • Provide an overview of all UK databases to address any gaps and bottlenecks in the field of information selected and collected that would enhance data generation by all future translational research and clinical trials in the UK
  • Ensure all information for the Registry can be collected efficiently and accuractely, and put processes in place to maintain data (up to date and correct)
  • Identify and implement improvements in data collection, analysis and reporting
  • Maintain the registry IT-system and liaise with web designer for the purpose of functionality
  • Liaise with Curator to produce reports for the Trustees, CEO and Steering Committee
  • Liaise with Chair of Steering Committee and committee members
  • Attend meetings regarding usage and advancement of Registry with health professionals.
  • Support Action Duchenne conferences, workshops, seminars and attend staff training as required
  • Maintain high productivity and work quality standards
  • Maintain confidentiality at all times

Download person specification

See advert

To apply, please send your CV with a brief covering letter.  Closing date is 20th March 2018 by 5.00pm.  Only suitable candidates will be contacted for a brief, informal telephone interview prior to  interviews taking place on the 22nd March 2018.

Please send all applications to Angela Stringer, Action Duchenne, Epicentre, 41 West Street, London E11 4LJ or [email protected]

  • Permanent
  • Full time (37.5 hours per week)
  • Location:  Flexible
  • 25 days holiday plus bank holidays