The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia

NCT02276716 | Completed Phase 2 DMC

• 1 other identifier: 11-02100
• Study Type: interventional
• Target: 26
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Familial Dysautonomia

Outcome Measures

Primary Outcomes (5)

• 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

Secondary Outcomes (1)

• 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

Study Arms (1)

Phosphatidylserine

EXPERIMENTAL

Phosphatidylserine titration from 300, 600 and 800 mg/day duration: 6 months

Dietary Supplement: Phosphatidylserine

Interventions

Phosphatidylserine DIETARY_SUPPLEMENT

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.

Phosphatidylserine

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• \- Diagnosis of familial dysautonomia (with mutation testing)
• Age 12 years or older
• Signed informed consent (or ascent), which will include permission to assess medical records

You may not qualify if:

• Patients with significant cardiac, respiratory, or renal compromise that, in the investigators opinion, may jeopardize their health by participating in this trial
• Patients who are currently participating in other clinical trials of compounds that my change IKAP gene expression.
• Women who are pregnant or lactating
• Women of childbearing potential who are not using medically accepted methods of contraception.
• Patients taking anticoagulants, such as warfarin, heparin, aspirin, pentoxifylline, clopidogrel or ticlopidine.
• Patients taking ginko, garlic or vitamin E supplements.

Sponsors & Collaborators

• NYU Langone Health: lead

Study Sites (1)

NYU Langone Medical Center, Dyautonomia Center, Suite 9Q

New York, New York, 10016, United States

Location

MeSH Terms

Conditions

Dysautonomia, Familial

Interventions

Phosphatidylserines

Condition Hierarchy (Ancestors)

Primary Dysautonomias; Autonomic Nervous System Diseases; Nervous System Diseases; Hereditary Sensory and Autonomic Neuropathies; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Glycerophospholipids; Phosphatidic Acids; Glycerophosphates; Phospholipids; Membrane Lipids; Lipids

Study Officials

• Horacio Kaufmann, MD

  NYU School of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 16, 2014
• First Posted: October 28, 2014
• Study Start: November 1, 2011
• Primary Completion: August 1, 2019
• Study Completion: August 1, 2019
• Last Updated: February 21, 2021

Record last verified: 2021-02

Locations

US (1)