Familial Dysautonomia Clinical Trial
Official title:
The Safety and Tolerability of Kinetin, a Nutritional Supplement That Corrects the Splicing Defect, in Patients With Familial Dysautonomia
NCT number | NCT02274051 |
Other study ID # | 09-0762 |
Secondary ID | |
Status | Completed |
Phase | Phase 1 |
First received | |
Last updated | |
Start date | November 2009 |
Est. completion date | May 4, 2019 |
Verified date | June 2019 |
Source | NYU Langone Health |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
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.
Status | Completed |
Enrollment | 15 |
Est. completion date | May 4, 2019 |
Est. primary completion date | May 4, 2019 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 16 Years and older |
Eligibility |
Inclusion Criteria: 1. Male of female patients aged 16 and older 2. Confirmed diagnosis of familial dysautonomia by genetic testing 3. Written informed consent to participate in the trial and understanding that they can withdraw consent at anytime without affecting their future care. 4. Ability to comply with the requirements of the study procedures. Exclusion Criteria: 1. Patients who have taken other nutritional supplements that may affect IKAP mRNA splicing within the last 30 days 2. Patients with a known hypersensitivity to any component of the nutritional supplement kinetin 3. Patients with atrial fibrillation, angina or an electrocardiogram documenting significant abnormality that may jeopardize the patient's health. 4. Patients with significant pulmonary, liver, renal (creatinine >2.5 mg/ml) or cardiac illness 5. Women who are pregnant or lactating 6. Women of childbearing potential who are not using medically accepted methods of contraception. 7. Patients who have a significant abnormality on clinical examination that may, in the investigator's opinion, jeopardize their healthy participating in this pilot trial. 8. Patients taking allopurinol, other xanthine oxidase inhibitors or other compounds that may interfere with the metabolism of kinetin including oral calcium supplements. |
Country | Name | City | State |
---|---|---|---|
United States | NYU Langone Medical Center | New York | New York |
Lead Sponsor | Collaborator |
---|---|
NYU Langone Health |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Change in Safety blood labs | safety blood labs (CBC, metabolic panel) | At baseline and after each 6 months period and at 36 months | |
Primary | Change in vital signs | Sitting and standing blood pressure measurements and heart rate | At baseline and after each 6 months period and at 36 months | |
Primary | Change in ECG | 12 lead ECG measures | At baseline and after each 6 months period and at 36 months | |
Primary | Number of participants with adverse events | Number of adverse events | At baseline and after each 6 months period and at 36 months |
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