L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
Status:
Completed
Trial end date:
2017-07-01
Target enrollment:
Participant gender:
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