Hereditary sensory neuropathy type 1 (HSN1) treatment trial.

This study is testing whether taking an amino acid supplement called L-serine can help slow the progression of hereditary sensory neuropathy type 1 (HSN1) — a rare inherited nerve disease that causes progressive loss of sensation in the feet and legs, insensitivity to pain, and sometimes muscle wasting. People with HSN1 are prone to foot ulcers, infections, and in severe cases, limb amputation. HSN1 is caused by mutations in a gene that affects how a certain fatty substance is made in the body, leading to the production of toxic compounds that damage nerve cells. Research in animal models has shown that supplementing with L-serine (a naturally occurring amino acid) can reduce these toxic compounds. This study aims to test whether the same is true in people, using a range of measurements including skin sensitivity tests and nerve studies. You may be eligible if you have tested positive for a SPTLC1 gene mutation, are showing symptoms of HSN1, live in or can travel to Sydney, are able to walk, and are not taking L-serine already. People with other types of neuropathy (such as from diabetes), severe nerve degeneration, other significant medical conditions, a history of drug or alcohol abuse, or who are pregnant cannot participate. This is an important first step toward a potentially life-changing treatment for a condition with no current approved therapy.