The MTM and CNM Patient Registry Steering Committee comprises a mixture of clinical and research expertise, as well as representation from patients and patient organisations. Collectively, the committee are responsible for:
- Overseeing and approving data requests and trial recruitment enquiries
- Ensuring appropriate quality control and validation of data
- Assessing and approving contracts and confidentiality agreements
- Ensuring the Registry is well governed
This is intended to be a streamlined and rapid procedure in order to avoid delays to approvals. If you have any questions about the steering committee please contact the Registry Curator Jo Bullivant.
Carsten Bönnemann
Senior Investigator and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section – National Institute of Neurological Disorders and Stroke (NINDS)
United States of America
Ana Buj Bello (Co-Chair)
Senior Scientist in Neuromuscular Disorders and Gene Therapy – INSERM, Genethon
France
Aart den Hollander
Patient Representative – ZNM – Zusammen Stark! e.V.
Netherlands
James Dowling (Co-Chair)
Staff Clinician in the Division of Neurology and Senior Scientist in Genetics and Genome Biology – Hospital for Sick Children, Toronto
Canada
Heinz Jungbluth
Consultant in Paediatric Neurology and Senior Lecturer – Guy’s and St Thomas’ NHS Trust and King’s College London
United Kingdom
Anne Lennox
Chief Executive and Parent Trustee – Myotubular Trust
United Kingdom
Chiara Marini-Bettolo (Principal Investigator)
Clinical Lead, Consultant Neurologist, and Clinical Lead of the Highly Specialised Service for Limb-girdle muscular dystrophies – John Walton Muscular Dystrophy Research Centre and Newcastle Hospitals NHS Foundation Trust
United Kingdom
Melanie Spring
Communications and Education Coordinator – Myotubular Trust
United Kingdom
