Sponsor study identifier
interventional
18
1 country
2
Study Start
September 2013
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
May 2016
Actual (reported)Study Completion
July 2017
Actual (reported)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
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
July 2017
Actual (reported)Click on a node to explore related trials.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
September 19, 2012
Actual (reported)November 27, 2012
Actual (reported)September 2013
Date type not reportedThis date has not been verified as actual or estimated.
May 2016
Actual (reported)July 2017
Actual (reported)September 12, 2018
Actual (reported)Charcot Marie Tooth Neuropathy Score
The Charcot Marie Tooth Neuropathy Score (CMTNS) is a 0 to 36 point composite scoring assessment that is used to measure disease severity in Charcot Marie Tooth Neuropathy and other sensory and motor neuropathies. The CMTNS is composed of 9 items that evaluate functions related to disease progression. These 9 parameters include reviewing sensory symptoms, motor symptoms (arms and legs), pinprick sensibility, vibration, leg strength, arm strength, and nerve conduction tests. Each item is scored from 0 to 4, with the lower scores representing less severe symptoms and higher scores representing more severe symptoms.The 9 individual item scores are then totaled to provide a global measure of disease severity. For example the lowest possible total score is 0 which represents an asymptomatic individual and the highest score possible is a 36 which represents an individual with severe disease progression. There are sub scores that can be assessed but sub scores were not utilized in this study
48 Weeks
Intraepidermal Nerve Fiber Density (IENFD)
48 Weeks
Autonomic Function Testing (AFT) Composite Autonomic Severity Score (CASS)
48 Weeks
Nerve Conduction Testing
48 Weeks
1-deoxy-sphinganine
48 Weeks
1-deoxy-sphingosine
48 weeks
Placebo arm
amino acid supplementation with L-serine
400mg/kg/d L-serine or placebo divided TID for year 1, then crossover of placebo arm so that all patients on 400mg/kg/d L-serine divided TID for year 2.
400mg/kg/d divided TID for year 1 only.
Massachusetts General Hospital
Boston, Massachusetts, 02114, United States
UMass Medical Center
Worcester, Massachusetts, 01605, United States
Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest. 2011 Dec;121(12):4735-45. doi: 10.1172/JCI57549.
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 F. Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 2019 Jan 22;92(4):e359-e370. doi: 10.1212/WNL.0000000000006811. Epub 2019 Jan 9.
Florian S Eichler, MD
Massachusetts General Hospital
18 participants (actual enrollment reported by the registry).
First Submitted
September 19, 2012
First Posted
November 27, 2012
Study Start
September 2013
Date type not reportedThis date has not been verified as actual or estimated.
Tolerability and Efficacy of L-Serine in Patients With Amyotrophic Lateral Sclerosis (ALS)
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Primary Completion
May 2016
Actual (reported)Study Completion
July 2017
Actual (reported)Last Updated
September 12, 2018
Results First Posted
September 12, 2018
Record last verified: 2018-08
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Source: ClinicalTrials.gov.
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