SBMA Natural history study
Research type
Research Study
Full title
Natural history study of Spinal and Bulbar Muscular Atrophy
IRAS ID
300244
Contact name
Pietro Fratta
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Spinal and Bulbar Muscular Atrophy (Kennedy's disease) is a rare inherited motor neurone disease. It is caused by an expansion in the androgen receptor on the X chromosome which causes a toxic gain of function. It only affects males with women being carriers. It is a significantly debilitating disease, causing slowly progressive weakness often leading to wheelchair dependence, impairment of speech and swallowing as well as multiple hormonal effects. There are currently no treatments to prevent the progression of Kennedy’s disease. As it is a rare disease it has been poorly investigated and understood due to the small numbers of affected patients recruited to studies.
This study hopes to better understand the clinical phenotype and natural history of Kennedy's disease in both patients and carriers of the condition. In the process it will try to identify key biomarkers and reliable outcome measures that can be used in clinical treatment trials. Subjects will have a yearly review which includes a clinical assessment, muscle function testing, gait and balance testing and blood tests for biomarkers. They will also have the option of having MRI, muscle ultrasound, lung function testing, skin and muscle biopsies and Cerebrospinal Fluid (CSF) testing to get a more detailed understanding of the physiological changes seen in this disease.
Patients and carriers with a confirmed diagnosis of Kennedy's disease will be eligible for the study. We will also be recruiting healthy controls for comparative data. The study will be based at the National Hospital for Neurology and Neurosurgery where we hold a dedicated Kennedy's disease NHS clinic.
REC name
London - City & East Research Ethics Committee
REC reference
21/PR/1688
Date of REC Opinion
16 Feb 2022
REC opinion
Further Information Favourable Opinion