Abstract:
OBJECTIVE:To evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1). METHODS:In this randomized, placebo-controlled, parallel-group trial with open-label extension, patients aged 18-70 years with symptomatic HSAN1 were randomized to l-serine (400 mg/kg/day) or placebo for 1 year. All participants received l-serine during the second year. The primary outcome measure was the Charcot-Marie-Tooth Neuropathy Score version 2 (CMTNS). Secondary outcomes included plasma sphingolipid levels, epidermal nerve fiber density, electrophysiologic measurements, patient-reported measures, and adverse events. RESULTS:Between August 2013 and April 2014, we enrolled and randomized 18 participants, 16 of whom completed the study. After 1 year, the l-serine group experienced improvement in CMTNS relative to the placebo group (-1.5 units, 95% CI -2.8 to -0.1, p = 0.03), with evidence of continued improvement in the second year of treatment (-0.77, 95% CI -1.67 to 0.13, p = 0.09). Concomitantly, deoxysphinganine levels dropped in l-serine-treated but not placebo-treated participants (59% decrease vs 11% increase; p < 0.001). There were no serious adverse effects related to l-serine. CONCLUSION:High-dose oral l-serine supplementation appears safe in patients with HSAN1 and is potentially effective at slowing disease progression. CLINICALTRIALSGOV IDENTIFIER:NCT01733407. CLASSIFICATION OF EVIDENCE:This study provides Class I evidence that high-dose oral l-serine supplementation significantly slows disease progression in patients with HSAN1.
journal_name
Neurologyjournal_title
Neurologyauthors
Fridman V,Suriyanarayanan S,Novak P,David W,Macklin EA,McKenna-Yasek D,Walsh K,Aziz-Bose R,Oaklander AL,Brown R,Hornemann T,Eichler Fdoi
10.1212/WNL.0000000000006811subject
Has Abstractpub_date
2019-01-22 00:00:00pages
e359-e370issue
4eissn
0028-3878issn
1526-632Xpii
WNL.0000000000006811journal_volume
92pub_type
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