In December 2021, the Charcot-Marie-Tooth Association Strategy to Accelerate Research (CMTA-STAR) awarded Dr. Mary M. Reilly and her team at the UCL Queen Square Institute of Neurology in London $354,826 for a clinical trial in patients who have Hereditary Sensory Neuropathy 1 (HSN1).
Hereditary Sensory Neuropathy Type 1 (HSN1) is a rare genetic neuropathy which causes pain, sensory loss and variable weakness in the upper and lower extremities, for which there is no current treatment.
Dr. Reilly’s team at UCL Queen Square Institute of Neurology plan to perform a 12-month double-blind, placebo-controlled trial of L-serine in patients with HSN1 due to mutations in the SPTLC1/SPTLC2 gene.
The aim of this study is to assess whether L-serine is an effective drug treatment to slow or stop disease progression in HSN1 due to mutations in the SPLTLC1/SPTLC2 genes. The other aim is to assess if Magnetic Resonance Imaging (MRI) can accurately detect changes (fat accumulation in muscle) which occur in the lower limb muscles of people who have HSN1. We hope that the results will help us to confirm that MRI is an adequate measure to detect changes in the muscles of HSN1 patients. This could be used in future studies of HSN1 and other similar inherited neuropathies including Charcot-Marie-Tooth disease (CMT) to measure change over time.
As a participant in this study, you would be asked to take part in 4 in-person visits and 1 telephone call, during which you will complete questionnaires and have blood samples, MRI and nerve conduction studies. Skin biopsies may also be performed. As a patient, you will either receive the L-serine treatment or the placebo. Which treatment you receive is decided by chance and at random. The placebo contains no L-serine and no active drug of any type but it looks and tastes the same as L-serine. Patients will take a dose of either L-serine or placebo, three times daily, for 1 year.
This trial is only open to patients in the United Kingdom who have been diagnosed with hereditary sensory neuropathy type 1 (HSN1) which is due to a mutation in either the SPTLC1 or SPTLC2 gene.
For more information, please contact Dr. Caroline Kramarz, Clinical Research Fellow: caroline@kramarz@nhs.net