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Hereditary sensory neuropathy type 1 (HSN1) treatment trial.

Not Applicable
Recruiting
Conditions
Hereditary sensory neuropathy type 1A with SPTLC1 mutations
Hereditary sensory neuropathy type 1B with SPTLC2 mutations
Neurological - Neurodegenerative diseases
Human Genetics and Inherited Disorders - Other human genetics and inherited disorders
Registration Number
ACTRN12619000561189
Lead Sponsor
Concord Repatriation General Hospital
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Recruiting
Sex
All
Target Recruitment
20
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.

Study & Design

Study Type
Interventional
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod
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