None listed
Conditions
Brief 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.
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: 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
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.
Sponsors
Concord Repatriation General Hospital
Study design
Allocation
Non-randomised trial
Primary purpose
Treatment
Eligibility
Sex/Gender
All
Age
16 Years to No maximum
Healthy volunteers
No
Inclusion criteria
-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 criteria
-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.
Outcome results
None listed