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Sponsor study identifier
interventional
26
1 country
1
Study Start
November 2011
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
August 1, 2019
Actual (reported)Study Completion
August 1, 2019
Actual (reported)Familial dysautonomia (FD) is a devastating hereditary disease in which the development of selective neuronal populations is impaired because of a deficiency of the protein IKAP (Slaugenhaupt, 2002). There is no known cure. Treatments are supportive, often ineffective and around half of all patients die before reaching age 40 (Axelrod et al., 2002). Phosphatidylserine is an FDA approved food supplement that was shown recently to correct the genetic abnormality and restore IKAP protein levels in cell lines derived from patients with FD (Keren et al., 2011) and a humanized mouse model of the disease (Bochner et al., 2013). Despite its safety and efficacy in this fragile population being unknown, many patients with FD are currently taking phosphatidylserine The investigators propose to conduct a safety, tolerability and early proof of concept efficacy study of phosphatidylserine in patients with FD. The study will be divided into two independent arms. The first phase of the study will be an open-label dose titration study to determine the safety and optimal dose of phosphatidylserine and its effect of normal IKBKAP mRNA levels in 40 patients with FD. The second phase will be a longitudinal observational study in which we will follow, on a yearly basis, patients with FD of all ages who opt to take phosphatidylserine. In this study, we will evaluate the long-term safety of phosphatidylserine in patients with FD and hope to determine whether phosphatidylserine has any impact on the clinical evolution of the disorder. Our long-term goal is to find an effective therapy that will improve the quality of life for patients with FD and alter disease prognosis. We believe that the promise of phosphatidylserine and its availability in health food shops warrants a controlled safety, tolerability and efficacy study to determine whether it should be taken by patients with FD. This study is not intended to determine whether phosphatidylserine has a new indication to treat FD.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
August 1, 2019
Actual (reported)Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
November 2011
Date type not reportedThis date has not been verified as actual or estimated.
October 16, 2014
Actual (reported)October 28, 2014
Actual (reported)August 1, 2019
Actual (reported)August 1, 2019
Actual (reported)Change from baseline in blood lab values at every 2 month interval
blood lab values, CBC, metabolic panel,physical exam, vital signs, 12 lead ECG
measurements will be taken at baseline and at two months intervals for the first 6 months, then at yearly intervals for up to 5 years
Change from baseline in adverse events measures at every 2 month interval
number of participants with adverse events
measurements will be taken at baseline and at two months intervals for the first 6 months, then at yearly intervals for up to 5 years
Change from baseline in physical exam measures at every 2 month interval
change from baseline in physical exam
measurements will be taken at baseline and at two months intervals for the first 6 months, then at yearly intervals for up to 5 years
Change from baseline in 12 lead ECG measures at every 2 month interval
change from baseline in 12 lead ECG
measurements will be taken at baseline and at two months intervals for the first 6 months, then at yearly intervals for up to 5 years
Change from baseline in vital signs measures at every 2 month interval
change from baseline in sitting blood pressure, body temperature
measurements will be taken at baseline and at two months intervals for the first 6 months, then at yearly intervals for up to 5 years
Change from baseline in efficacy measures
measurements will be taken at baseline and at two months intervals for the first 6 months, then at yearly intervals for up to 5 years
Phosphatidylserine titration from 300, 600 and 800 mg/day duration: 6 months
Phosphatidylserine will be titrated starting at 300mg/day dose for two months to 600mg/day dose for 2 months, then 800 mg/day dose for a final 2 month period.
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
NYU Langone Medical Center, Dyautonomia Center, Suite 9Q
New York, New York, 10016, United States
Horacio Kaufmann, MD
NYU School of Medicine
26 participants (actual enrollment reported by the registry).
First Submitted
October 16, 2014
First Posted
October 28, 2014
Study Start
November 2011
Date type not reportedThis date has not been verified as actual or estimated.
Contact the study team to confirm eligibility.
Primary Completion
August 1, 2019
Actual (reported)Study Completion
August 1, 2019
Actual (reported)Last Updated
February 21, 2021
Record last verified: 2021-02
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
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