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Hereditary Sensory Neuropathy Type IPhase 2SENSENCT06113055

Hereditary Sensory Neuropathy Serine Trial

A Phase 2 study testing L-serine in people with Hereditary Sensory Neuropathy Type I, run by University College, London at 1 site in United Kingdom.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
Hereditary Sensory Neuropathy Type I
What is being tested?
L-serine
Type of treatment
Pill or oral medicine
Could I receive a placebo?
Yes, some participants may receive a placebo
How many people
50 participants
Where
1 siteUnited Kingdom
Study dates
21 Aug 2023to Aug 2025
Phase
Phase 2
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Who may be able to join

  • 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.

Who cannot join

  • 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.

Trial locations and contacts

1 site in 1 country.

United Kingdom1 site, 1 recruiting

  • University College London

    London

    Lodina Recica, 02034488011, lodina.recica.21@ucl.ac.uk

    Caroline Kramarz

    Recruiting

Other trials in United Kingdom

About this study

Official title: Randomised, Double Blind, Placebo-controlled Trial of L-serine in Hereditary Sensory Neuropathy Type 1.

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.

Read the detailed description

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 autosomal dominant (AD) neuropathy characterised by severe sensory and motor involvement for which there is no current treatment. HSN1 secondary to SPTLC1/2 mutations is the commonest type of HSN. The neuropathy is slowly progressive with onset between the second and fifth decade. The profound sensory involvement is associated with painless ulcers, recurrent osteomyelitis, and amputations. The neuropathy is very painful and pain medications are rarely fully efficacious. Motor involvement invariably follows leading to significant disability. HSN1 is due to mutations in the SPTLC1 and more rarely SPTLC2 genes which encode for the first two (out of 3) subunits of the enzyme serine palmitoyl transferase (SPT) which catalyses the first and rate limiting step in de novo sphingolipid biosynthesis. Mutations in SPTLC1 and SPTLC2 cause the neuropathy by a gain of function mechanism as mutations alter the substrate specificity of SPT whereby alanine and glycine are preferred over the canonical serine resulting in the production of neurotoxic deoxysphingolipids (DSBs).

This single-site double-blinded placebo-controlled trial will investigate whether L-serine is efficacious in the treatment of HSN1 due to SPTLC1/2 mutations.

The primary objective is to identify if treatment with L-serine is efficacious in the treatment of HSN1 due to SPTLC1/2 mutations compared to treatment with placebo. A major objective will be to validate the use of the MRC Muscle Fat Fraction protocol as a primary outcome measure in inherited neuropathies trials. The MRC Muscle Fat Fraction protocol has been shown to be a responsive biomarker in natural history studies in several inherited neuropathies including HSN, but not previously in clinical trials. Regardless of the efficacy outcome, the trial will assess the feasibility of MRI as an outcome measure in a clinical trial setting, and comparison of the results in the placebo arm to previous natural history study data will validate the translation of natural history results to the clinical trial setting.

Being tested
L-serine, Placebo
Medical subject headings
Hereditary Sensory and Autonomic Neuropathies

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • L-serineDrug

    Active comparator

  • PlaceboDrug

    Placebo comparator

Study groups in NCT06113055
Study groupRoleWhat they receive
L-serineActive comparatorL-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).
Receives: Drug: L-serine
DextrosePlacebo comparatorDextrose 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).
Receives: Drug: Placebo

What is being measured

The primary outcome is the main question the study is designed to answer.

  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.

    Measured: 12 months

Secondary outcomes (8)

  1. Secondary outcome measures

    Charcot Marie Tooth Neuropathy Score (CMTNS) v2 and v2-Rasch

    Measured: 12 months

  2. Secondary/Exploratory outcome measures

    plasma neurofilament light chain levels

    Measured: 12 months

  3. Secondary/Exploratory outcome measures

    plasma deoxysphingolipid levels

    Measured: 12 months

  4. Secondary/Exploratory outcome measures

    thigh intraepidermal nerve fibre density

    Measured: 12 months

  5. Secondary outcome measures

    Charcot Marie Tooth Health Index Quality of Life Score

    Measured: 12 months

  6. Secondary outcome measure

    Neuropathic Pain Diagnostic Questionnaire

    Measured: 12 months

  7. Secondary outcome measure

    Neuropathic Pain Symptom Inventory

    Measured: 12 months

  8. Secondary outcome measure

    Brief Pain Inventory

    Measured: 12 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted2 Nov 2023
  2. Study start21 Aug 2023
  3. Primary completionAug 2025 (estimated)
  4. Study completionAug 2025 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 2
Primary purpose
Treatment
Allocation
Randomised
Intervention model
Parallel groups
Masking
Quadruple blind
Who is masked
Participant, Care provider, Investigator, Outcomes assessor
Enrolment
50 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT06113055
Sponsor's protocol ID
1006207
Acronym
SENSE
Status last verified
Oct 2023
First submitted
12 Oct 2023
Last updated
2 Nov 2023
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Kramarz C, Recica L, Morrow J, Skorupinska M, Rossor AM, Laura M, Reilly MM. Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 (HSN1) in the UK. J Peripher Nerv Syst. 2026 Jun;31(2):e70133. doi: 10.1111/jns.70133.

    PubMed 42231561

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing L-serine in people with Hereditary Sensory Neuropathy Type I, run by University College, London at 1 site in United Kingdom.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: status not confirmed, as of the sponsor's last update on 2 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this phase mean?

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

MRC Muscle Fat Fraction protocol (time frame: 12 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT06113055, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Nov 2023.

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