Hereditary Sensory Neuropathy Serine Trial

NCT06113055 | Unknown Phase 2

• 1 other identifier: 1006207
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Hereditary Sensory Neuropathy Type I

Outcome Measures

Primary Outcomes (1)

• MRC Muscle Fat Fraction protocol

  The primary outcome measure will be the mean difference in change from baseline lower limb muscle fat fraction at the severity appropriate anatomical level measured by MRI over 12 months between L-serine treated and placebo treated groups. The primary outcome has units of percentage fat fraction (%FF) and is a continuous variable.

  12 months

Secondary Outcomes (8)

• Secondary outcome measures

  12 months

• Secondary/Exploratory outcome measures

  12 months

• Secondary/Exploratory outcome measures

  12 months

• Secondary/Exploratory outcome measures

  12 months

• Secondary outcome measures

  12 months

Study Arms (2)

L-serine

ACTIVE COMPARATOR

L-serine white or almost white crystalline powder or colourless crystal formulation which will be dissolved in water and administered orally. The dose will be weight based: 400mg/kg/day (total daily dose).

Drug: L-serine

Dextrose

PLACEBO COMPARATOR

Dextrose monohydrate powder: monohydrate form of crystalline D-glucose (dextrose) consisting of odourless, multi-granular white crystals. The dose will be weight based: 400mg/kg/day (total daily dose).

Drug: Placebo

Interventions

L-serine DRUG

Active comparator

L-serine

Placebo DRUG

Placebo comparator

Dextrose

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University College, London: lead

Study Sites (1)

University College London

London, United Kingdom

RECRUITING

MeSH Terms

Conditions

Hereditary Sensory and Autonomic Neuropathies

Interventions

Serine

Condition Hierarchy (Ancestors)

Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Amino Acids, Neutral; Amino Acids; Amino Acids, Peptides, and Proteins

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 12, 2023
• First Posted: November 2, 2023
• Study Start: August 21, 2023
• Primary Completion: August 1, 2025
• Study Completion: August 1, 2025
• Last Updated: November 2, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)