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RecruitingACTRN12619000561189

Hereditary sensory neuropathy type 1 (HSN1) treatment trial.

Hereditary sensory neuropathy type 1 (HSN1) treatment trial to evaluate the effect of L-serine on peripheral nerve function.

Sponsor

Concord Repatriation General Hospital

Enrollment

20 participants

Start Date

Mar 4, 2014

Study Type

Interventional

Conditions

Hereditary sensory neuropathy type 1A with SPTLC1 mutationsHereditary sensory neuropathy type 1B with SPTLC2 mutations

Summary

This study aims to determine whether dietary supplementation with L-serine improves clinical effects of hereditary sensory neuropathy type 1 (HSN1). The most prevalent form of HSN1 is caused by variations (mutations) in the serine palmitoyltransferase (SPT) gene. Deoxysphingolipid bases are toxic by-products produced by mutations in the SPT gene. In a rat model of HSN1, dietary supplementation with the amino acid, L-serine, reduced levels of deoxysphingolipid bases (Garofalo K, Penno A, Schmidt BP, et al. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest 2011;121:4735-4745). Serine treatment may prevent the clinical accompaniments of this disease which include sensory loss, insensitivity to pain and varying degrees of muscle weakness and wasting. Frequent complications in HSN1 are foot ulceration's, infections and limb amputations. We wish to determine the power of various modalities of testing (skin sensitivity testing, skin biopsy and standard clinical and neurophysiology measures) for a larger trial.

Eligibility

Sex: Both males and femalesMin Age: 16 Yearss

Inclusion Criteria6

  • Participants tested positive to SPTLC1 mutations.
  • Participants showing signs and symptoms of HSN1.
  • Participants able to visit the clinic in Sydney, Australia (geographically close proximity).
  • Ambulant subjects.
  • Participants only taking part in 1 clinical trial at a time.
  • Participants that are able to provide acceptable/accurate reproducible sensory level measurements.

Exclusion Criteria6

  • Participants whom have the presence of other forms of neuropathy e.g.-diabetes.
  • Participants already taking L-serine.
  • Participants highly dependent on medical care.
  • Participants with severe nerve degeneration.
  • Existing alcohol or drug abusers.
  • Pregnant women.

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Interventions

Ingredient: L-serine Molecular Weight: 105.09 g/mol Quantity (strength): 100% (100% supplement) - the dose administered is 400 mg/kg/body weight/day, spread over 3 doses per day. For example: th

Ingredient: L-serine Molecular Weight: 105.09 g/mol Quantity (strength): 100% (100% supplement) - the dose administered is 400 mg/kg/body weight/day, spread over 3 doses per day. For example: the daily dose for a patient weighing 75 kg is 30 g (10 g consumed three times per day). - the duration of administration is 24 months. - the mode of administration is a white crystalline powder mixed with water for oral consumption. Adherence will be monitored by taking blood samples every 6 months for L-serine amino acid quantitation analysis. A participant diary sheet will also be provided to participants to log any missed doses.

Locations(1)

ACT,NSW,NT,QLD,SA,TAS,WA,VIC, Australia

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ACTRN12619000561189