Cerebrospinal Fluid Study in Spinal Muscular Atrophy_v1
Research type
Research Study
Full title
An investigation into Cerebrospinal fluid findings in Spinal Muscular Atrophy
IRAS ID
307552
Contact name
Simon Parson
Contact email
Sponsor organisation
University of Aberdeen
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
What: Spinal Muscular Atrophy (SMA) is an inherited form of motor neuron disease which primarily affects very young children, and if not treated causes death or significant neurodisability in this age group. SMA has an incidence of 1 in 6-10,000 live births. Survival Motor Neuron (SMN) protein is present in all cells of the body, and was originally described as specifically important for the motor neuron cells in the spinal cord, which control muscle contraction and movement. Depletion of the protein in SMA patients results in motor neuron death, which in turn leads to a wasting of muscle and a decreasing ability to carry out routine tasks such as walking, feeding, swallowing and breathing. Mounting evidence now implicates multiple system and organ defects beyond the neuromuscular system. In particular the vascular system from heart to blood vessels is implicated. This has come into sharpest focus now that there are 3 disease-modifying therapies available for affected children. These are extending life, but also providing more time for additional, less severe pathologies to emerge. The first therapy developed is injected into cerebrospinal fluid(CSF) regularly throughout life, and this is the treatment with which this application is concerned.
Why: evidence from animal models of SMA has suggested that there may be deficiencies in an important cellular barrier which lies between the blood vessels and the nerve cells which they supply. However, there is no evidence available from SMA patients. It is important to know if this barrier is deficient as it could affect the development of future therapies.
Who: Any patient receiving therapeutic injections of Nusinersen (Spinraza), as CSF must be removed prior to each injection.
Where: Royal Aberdeen Children's Hospital
How: This preliminary study will last 1 year. Participants will undergo no additional treatments or procedures, as only routinely discarded CSF will be studied.REC name
East Midlands - Nottingham 1 Research Ethics Committee
REC reference
22/EM/0250
Date of REC Opinion
14 Nov 2022
REC opinion
Favourable Opinion