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Staff Profile

Dr Lindsay Murphy

Patient Registry Project Manager and Curator

  • Telephone: 0191 241 8640
  • Address: John Walton Muscular Dystrophy Research Centre
    Translational and Clinical Research Institute
    Newcastle University
    International Centre for Life
    Newcastle upon Tyne
    NE1 3BZ
Background

Current role

I am a member of the Patient Registry team in the John Walton Muscular Dystrophy Research Centre (JWMDRC), part of the Mitochondria and Neuromuscular Theme in the Translational and Clinical Research Institute. In particular, I manage and curate the Global FKRP Registry and the UK SMA Patient Registry. I also support both Adult and Paediatric SMA REACH.

Neuromuscular diseases (NMD) are a heterogeneous group of genetic conditions, which may be caused by either autosomal dominant, recessive or X-linked gene mutations. They are characterized by progressive muscle degeneration and weakness. In Europe, all NMD have a prevalence of ≤5 per 10,000 and are considered rare. Therefore, the identification of sufficient patients for recruitment to research studies and clinical trials presents a significant obstacle in the translational research of NMD. Patient registries have been created to address this challenge.

Patient registries are a type of research database containing information about individuals who are affected by a specific condition or genetic mutation. Registration is patient-initiated via secure, registry-specific online portals, and clinical and genetic data is provided by patients themselves and their clinicians. Patient registries are an excellent tool to facilitate translational research through:

  • The rapid identification of participants for clinical trials
  • The collection of patient data that contributes to the understanding of the natural history and prevalence of a rare disease
  • The support of specific research questions from academics, healthcare professionals and industry through data analysis and promotion of upcoming research studies or clinical trials
  • The collection of post-marketing surveillance data as new therapies become available

Patient registries provide a vital link to the research community, which enable the dissemination of relevant and disease-specific information to patients. Registries also contribute to the development of standards of care for NMD patients.

Publications