Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
Adolescent
Adult
Aged
Double-Blind Method
Female
Follow-Up Studies
Hereditary Sensory and Autonomic Neuropathies
/ drug therapy
Humans
Male
Middle Aged
Neural Conduction
/ drug effects
Pain Measurement
Serine
/ therapeutic use
Serine C-Palmitoyltransferase
/ genetics
Sphingolipids
/ metabolism
Surveys and Questionnaires
Treatment Outcome
Ubiquitin Thiolesterase
/ metabolism
Young Adult
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
22 01 2019
22 01 2019
Historique:
received:
15
03
2018
accepted:
28
09
2018
pubmed:
11
1
2019
medline:
18
10
2019
entrez:
11
1
2019
Statut:
ppublish
Résumé
To evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1). 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. 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, High-dose oral l-serine supplementation appears safe in patients with HSAN1 and is potentially effective at slowing disease progression. NCT01733407. This study provides Class I evidence that high-dose oral l-serine supplementation significantly slows disease progression in patients with HSAN1.
Identifiants
pubmed: 30626650
pii: WNL.0000000000006811
doi: 10.1212/WNL.0000000000006811
pmc: PMC6345118
doi:
Substances chimiques
1-deoxysphingolipid
0
Sphingolipids
0
UCHL1 protein, human
0
Serine
452VLY9402
SPTLC1 protein, human
EC 2.3.1.50
Serine C-Palmitoyltransferase
EC 2.3.1.50
Ubiquitin Thiolesterase
EC 3.4.19.12
Banques de données
ClinicalTrials.gov
['NCT01733407']
Types de publication
Journal Article
Randomized Controlled Trial
Langues
eng
Sous-ensembles de citation
IM
Pagination
e359-e370Subventions
Organisme : NINDS NIH HHS
ID : K24 NS059892
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS072446
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS082331
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS093653
Pays : United States
Informations de copyright
Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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