Hereditary Sensory Neuropathy Serine trial (SENSE trial)
Research type
Research Study
Full title
Randomised double blind placebo controlled trial of L-serine in Hereditary Sensory Neuropathy type 1
IRAS ID
1006207
Contact name
Mary Reilly
Contact email
Sponsor organisation
University College London Joint Research Office CTIMPS
Eudract number
2022-002567-30
ISRCTN Number
ISRCTN17106427
Research summary
Hereditary Sensory Neuropathy (HSN) represents a subgroup of disorders called Charcot Marie Tooth (CMT) disease. Hereditary Sensory Neuropathy Type 1 (HSN1) is the most common subtype. It is a rare inherited neuropathy characterised by severe loss of feeling and weakness for which there is no current treatment.
HSN1 secondary to mutations in the gene SPTLC1/2 is the commonest type of HSN. The neuropathy is slowly progressive and it is associated with painless ulcers, recurrent osteomyelitis and amputations.The purpose 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 or SPTLC2 gene. The other aim is to assess if Magnetic Resonance Imaging (MRI) can accurately detect the changes which occur in the muscles of people who have HSN1.
By combining our preliminary studies together with the previous transgenic mice L-serine treatment trial and the pilot US clinical trial, we feel there is now sufficient evidence to justify a definitive clinical trial of L-serine in patients with HSN1 secondary to SPTCL1/2 mutations.
Potential participants with HSN1 due to SPTCL1/2 mutations will be identified through the inherited neuropathy clinics of Professor Mary Reilly and Dr Matilde Laura at NHNN and through our clinical database.
In this 12 month double blind placebo controlled clinical trial, participants will be randomly assigned to either receive L-serine or placebo in a 1:1 L-serine: placebo ratio and stratified by anatomical target of primary outcome measure.
During the 12 months treatment period participants will be reviewed at a 6 month and 12 month visit period. These visits will include assessments based on safety including lab markers and efficacy, such as neurological examination, blood tests, skin biopsies, patient questionnaires and nerve conduction studies, MRI. Overall, there will be 4 in person visits to NHNN.REC name
London - Hampstead Research Ethics Committee
REC reference
23/LO/0114
Date of REC Opinion
28 Feb 2023
REC opinion
Further Information Favourable Opinion