L-serine Study Results

Vera Fridman, Peter Novak, William David, Diane McKenna-Yasek, Kailey Walsh, Anne Louise Oaklander, Robert Brown, Thorsten Hornmann, and Florian Eichler.

The L-serine study supported by the Deater Foundation was presented at last year’s Deater Foundation International Symposium and at the American Academy of Neurology’s 2017 Annual meeting. The paper has been submitted for publication.

The study sought to evaluate the safety and efficacy of L-serine in patients with HSAN1. Eighteen patients with HSAN1 and prominent sensory loss, foot ulcers, or shooting pains took part. Half received L-serine and half received placebo for a year. The study was “double-blind”, so the researchers did not know which participants received the supplement and which received the placebo. Dr. Eichler at Massachusetts General Hospital and Dr. Brown at the University of Massachusetts collaborated with other researchers for the study. After 48 weeks all participants took L-serine for an additional year.  16 subjects completed the study. There were no serious adverse effects related to L-serine. Testing showed improvement in the L-serine group vs. placebo at one year and improvement in all participants at the end of the study. The study concluded that L-serine is a safe and potentially efficacious treatment for HSAN1.

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L-Serine Study Results

A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, DELAYED-START TRIAL TO EVALUATE THE SAFETY AND EFFICACY OF L-SERINE IN SUBJECTS WITH HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 (HSAN1)

Vera Fridman1, Peter Novak2, William David3, Anne Louise Oaklander3, Eric Macklin3, Diane McKenna-Yasek2, Kailey Walsh3, Robert Brown2, Thorsten Hornemann4, Florian Eichler3  1University of Colorado Medical Center, Denver, US., 2University of Massachusetts Medical School, Worcester, US.,3 Massachusetts General Hospital (MGH), Boston, US., 4University Hospital Zurich, Clinical Chemistry, Zurich, Switzerland.

Introduction: Hereditary Sensory Autonomic Neuropathy Type 1 (HSAN1) is a severe, autosomal dominant, axonal neuropathy that manifests with marked, small fiber predominant sensory loss, variable degrees of limb weakness, and skin ulceration. HSAN1 is caused by mutations in the SPTLC1 and SPTLC2 genes, which encode two of the three subunits of the enzyme serine palmitoyltransferase (SPT). Mutations in SPT induce a permanent shift in the substrate preference from serine to alanine thereby forming a class of neurotoxic deoxysphingolipids (dSL). Supplementation with L-serine reduces dSL levels in transgenic HSAN1 mice and results in clinical improvement of neuropathy. We report a two-year, delayed-start, placebo-controlled clinical trial evaluating the safety and efficacy of oral L-serine (400 mg/kg/d) in human subjects with HSAN1.

Results: All but 2 subjects (both of whom

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