MedTrace Logo

The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia

NCT02274051 · Status: COMPLETED · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 15

Last updated 2019-06-18

No results posted yet for this study

Summary

This is a study of kinetin, a nutritional supplement that corrects the mRNA splicing defect in patients with familial dysautonomia (FD, also known as Riley Day syndrome or hereditary sensory and autonomic neuropathy type III). FD is a rare fatal autosomal recessive disease in which the growth and development of selective neuronal populations is impaired. The disease is the result of a point mutation in the gene sequence that encodes for kinase complex associated protein (IKAP) in chromosome 9q31. The mutation, at the start of the non-encoding intron 20, weakens the splice site, causing the spliceosome to wrongly join together exons 19 and 21 when transcribing the mRNA strand and miss out exon 20. The mutated mRNA produces a short unstable IKAP protein that is quickly degraded. Interestingly, the mutation does not lead to a complete loss of function. Instead, it results in a tissue specific deficiency in splicing efficiency with both normal (wild type) and mutant IKAP mRNA being expressed in different ratios in different tissues. Some cells, like fibroblasts, produce mostly normal mRNA and protein, where as others, like neurons, produce mostly mutant mRNA and almost no functional protein product.

Conditions

  • Familial Dysautonomia

Interventions

DIETARY_SUPPLEMENT

Kinetin

Titration of Kinetin to maximum individualized dose, then steady state over a 3 year period once daily dose.

Sponsors & Collaborators

Principal Investigators

  • Horacio Kaufmann, MD · NYU School of Medicine

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
16 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-11-30
Primary Completion
2019-05-04
Completion
2019-05-04

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02274051 on ClinicalTrials.gov