TREATIN
Research type
Research Study
Full title
Improving clinical trial readiness for TTN gene related centronuclear myopathies
IRAS ID
307035
Contact name
Anna Sarkozy
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS Foundation Trust
Duration of Study in the UK
1 years, 11 months, 31 days
Research summary
Centronuclear myopathies (CNM) are rare neuromuscular conditions caused by faults (mutations) in genes important for the correct muscle function. CNM can present at birth or shortly after birth with low tone, progressive muscle weakness and respiratory difficulties. Changes in the TTN gene are responsible for a relevant proportion of CNM cases. Patients with changes in the TTN gene can present a wide range of clinical symptoms and signs, ranging from very severe problems at birth to milder conditions presenting later in life with slowly progressive muscle weakness. While major progress is being made towards a treatment for some forms of CNM caused by other gene mutations, clinical trial readiness for TTN gene related CNM still represents an important unmet need. To date, only a few papers were published describing TTN-gene related myopathies (TTN-RM) and there is limited knowledge of the full clinical spectrum at presentation, natural history (NH) and progression of this disease. In absence of sufficient information of NH, we are lacking tools (ie outcome measures) and information to test effects and efficacy of new drugs for this rare condition. As the genetic diagnosis of TTN-RM is still extremely challenging, due to the size of the gene, use of muscle imaging, by muscle ultrasound (US) and Magnetic Resonance (MRI) can help to support diagnosis, and also better define evolution of the disease over time.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
23/YH/0019
Date of REC Opinion
9 Mar 2023
REC opinion
Further Information Favourable Opinion