Testing L-serine for treating Hereditary Sensory Neuropathy Type 1
Randomised, Double Blind, Placebo-controlled Trial of L-serine in Hereditary Sensory Neuropathy Type 1.
This study is testing if L-serine can help people with Hereditary Sensory Neuropathy Type 1 slow down or stop their symptoms from getting worse.
Quick facts
| Phase | Phase 2 |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University College, London Academic / other |
| Locations | 1 site (London) |
| Trial ID | NCT06113055 on ClinicalTrials.gov |
What this trial studies
This trial is a randomized double-blind placebo-controlled study investigating the efficacy of L-serine in patients with Hereditary Sensory Neuropathy Type 1 (HSN1) caused by mutations in the SPTLC1 or SPTLC2 genes. Conducted at the National Hospital for Neurology and Neurosurgery in London, the study aims to determine if L-serine can slow or halt disease progression. Additionally, it will assess the effectiveness of Magnetic Resonance Imaging (MRI) in detecting muscle changes associated with HSN1. Participants will be monitored for their response to treatment and changes in their condition over time.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18 and older with genetically confirmed HSN1 due to SPTLC1 or SPTLC2 mutations.
Not a fit: Patients who have undergone recent foot surgery or have conditions preventing MRI scans may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve the quality of life for patients with HSN1 by slowing disease progression.
How similar studies have performed: While similar approaches have been explored, this specific application of L-serine in HSN1 is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
London
- University College London — London, United Kingdom (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.