Hereditary sensory neuropathy type 1 HSN1A (HSAN1A) and HSN1C (HSAN1C) Nervous System Diseases
Conditions
Interventions
Patients will be randomly assigned to either receive L-serine or placebo in a 1:1 L-serine:placebo ratio.
Following participant consent and confirmation of eligibility, at visit 1, participants will
dosage: three times daily for 12 months
administration: powder form to be dissolved in water.
Placebo medication: Dextrose monohydrate powder
dosage as above.
Sponsors
University College London
Eligibility
Sex/Gender
All
Age
18 Years to 100 Years
Inclusion criteria
Inclusion criteria: 1. Participants aged =18 years with genetically proven HSN1 due to SPTLC1/2 mutations. 2. Participants must be able to undergo an MRI scan without sedation. 3. Participants must be able to complete the Charcot Marie Tooth Examination Score (CMTES) 4. Participants must have a CMTES =26 5. Female participants of childbearing potential who are sexually active must agree to use a highly effective method of contraception from the time consent is signed until six days after treatment discontinuation (this is due to a lack of safety data on use of L-serine in pregnant and breastfeeding women; and to allow for medication wash out post treatment discontinuation). Highly effective methods of contraception include: 5.1. Combine hormonal contraception associated with inhibition of ovulation 5.2. Progesterone only hormonal contraception associated with inhibition of ovulation 5.3. Intrauterine device 5.4. Intrauterine hormone-releasing system 5.5. Bilateral tubal occlusion 5.6. Vasectomised partner (when this is the sole partner of the patient) 5.7. Sexual abstinence (sexual abstinence is considered a highly effective method only if defined as refraining from heterosexual intercourse during the entire period associated with the study treatments, and the reliability of sexual abstinence is in line with the usual lifestyle of the subject) 6. Participants must be willing and able to provide written informed consent.
Exclusion criteria
Exclusion criteria: 1. Participants have undergone foot surgery in the 6 months prior to trial enrolment or are due to undergo foot surgery during the trial. 2. Participants have a history of nephrolithiasis. 3. Participants have another medical condition or metal implant which precludes them from having an MRI scan 4. Participants have another medical condition which precludes them from completing CMESv2. 5. Participants with known diagnosis of another neuromuscular disease. 6. Participants with type 1 and 2 diabetes. 7. Females who are pregnant or are planning pregnancy or breastfeeding. 8. Patient taking regular L-serine supplementation within 6 months of study commencement.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Difference in 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 | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Charcot-Marie-Tooth neuropathy score (CMTNS)/ Charcot-Marie-Tooth examination score (CMTES), a validated scale of clinical impairment assessing symptoms, signs and neurophysiological parameters, performed at baseline and 12 months 2. Quality of life questionnaire (CMT health index quality of life) to assess measured at baseline and 12 months 3. Assessment of neuropathic pain using questionnaires: Neuropathic Pain Symptom Inventory (NPSI), Neuropathic pain diagnostic questionnaire (DN4) and Brief pain inventory (BPI) and pain diary at baseline and 12 months | — |
Countries
England, United Kingdom
Outcome results
None listed