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.
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Change from baseline in blood lab values at every 2 month interval
Timeframe: 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
Timeframe: 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
Timeframe: 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
Timeframe: 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
Timeframe: 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