Hereditary Sensory Neuropathy Serine Trial

• Status: Recruiting
• Trial end date: 2025-08-01
• Target enrollment: 0
• Participant gender: All

Summary

This is a randomised double-blind placebo-controlled trial of L-serine in Hereditary Sensory Neuropathy type 1 (HSN1) due to variants in SPTLC1/2 gene.

This is a single-centre study being conducted at the National Hospital for Neurology and Neurosurgery, London UK.

The SENSE trial will test whether L-serine is an effective drug treatment to slow or stop disease progression in HSN1 due to variants 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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University College, London

Criteria

Inclusion Criteria:

• Participants aged ≥ 18 with genetically proven HSN1 due to SPTLC1/2 mutations.

• Participants must be able to undergo an MRI scan without sedation.

• Participants must be able to complete the Charcot Marie Tooth Neuropathy Score (CMTNS)

• Participants must have a CMTES ≤ 26

• Female participants of childbearing potential must agree to use a highly effective method of contraception from the time consent is signed until six days after treatment discontinuation (this is to allow for medication wash out post treatment discontinuation).

• Participants must be willing and able to provide written informed consent.

Exclusion Criteria:

• Participants have undergone foot surgery in the 6 months prior to trial enrolment or are due to undergo foot surgery during the trial

• Participants have a history of nephrolithiasis

• Participants have another medical condition which precludes them from having an MRI scan or from completing the CMTNSv2

• Participants with known diagnosis of another neuromuscular disease

• Participants with diabetes

• Females who are planning pregnancy or are pregnant or breastfeeding.

• Patient taking regular L-serine supplementation within 6 months of study commencement.