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L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1

NCT01733407 · Status: COMPLETED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 18

Last updated 2018-09-12

Study results available
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Summary

In hereditary sensory and autonomic neuropathy type 1 (HSAN1) the investigators recently discovered the accumulation of two neurotoxic sphingolipids. It appears that these lipids arise as the mutant enzyme has a reduced affinity for its normal preferred substrate L-serine. The investigators now plan to perform a two year study of L-serine supplementation to correct the biochemistry and neurological disease in humans with HSAN1. In the course the investigators will also establish correlations between an existing neurological rating scale of sensory neuropathy and intraepidermal nerve fiber density.

Funding Source - FDA OOPD

Conditions

  • Hereditary Sensory and Autonomic Neuropathy Type I

Interventions

DRUG

L-serine

400mg/kg/d L-serine or placebo divided TID for year 1, then crossover of placebo arm so that all patients on 400mg/kg/d L-serine divided TID for year 2.

DRUG

placebo

400mg/kg/d divided TID for year 1 only.

Sponsors & Collaborators

  • Massachusetts General Hospital

    lead OTHER

Principal Investigators

  • Florian S Eichler, MD · Massachusetts General Hospital

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-09-30
Primary Completion
2016-05-31
Completion
2017-07-31

Countries

  • United States

Study Locations

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Entities

Drugs

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01733407 on ClinicalTrials.gov