Clinical Trial: Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]
Official Title: Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research
Brief Summary: Children and adults with pyruvate dehydrogenase complex (PDC) deficiency are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family's medical history and experiences with PDC deficiency, review of medical records by the researchers, and in some cases, advanced genetic testing. A blood draw will be requested, and an optional skin biopsy is part of the study for some participants.
Detailed Summary:
Pyruvate dehydrogenase complex (PDC) deficiencies are a major class of mitochondrial diseases, limiting oxidation of carbohydrate for energy production, which is especially important in the brain. So far, there is not a definitive treatment for these disorders. This study, "Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies," will create a database with information that is collected over a long period of time about patients with PDC deficiencies. This database will be a part of the existing North American Mitochondrial Disease Consortium (NAMDC) Patient Data Registry and Biorepository database. The study will collect data specific to PDC deficiencies, including data that is derived from patients/families. Approximately 150-200 subjects with confirmed PDC deficiencies will be enrolled over 4 years. The genetic basis and pathophysiology will be explored in up to a third of confirmed PDC deficient patients, who currently have not been found to have an identified mutation in DLD or any of the five "primary" PDC-specific genes (PDHA1, PDHB, DLAT, PDHX, and PDP1), and who might benefit from different treatments.
The specific aims are:
- Create a Pyruvate Dehydrogenase Complex (PDC) Deficiencies specific database within the NAMDC Patient Data Registry
- Use advanced genetic analysis technologies to find mutations in those people in whom none has been found
- Identify connections between these clinical and genetic findings to see if there are different types of PDC deficiencies that may respond to different treatments, and to identify outcomes and forms of treatment that could be tested in ongoing and future studies.
About
Sponsor: University Hospitals Cleveland Medical Center
Current Primary Outcome: Survival outcomes in pyruvate dehydrogenase deficiency disease [ Time Frame: Data will be collected about duration of survival from birth until the last date known to be living at the time of data analysis. ]
Original Primary Outcome: Survival outcomes in pyruvate dehydrogenase deficiency disease [ Time Frame: The measure will be analyzed upon completion of the project, approximately 2 years, and retrospectively for subjects who are deceased at study entry. ]
Current Secondary Outcome: Neurological outcomes in pyruvate dehydrogenase deficiency disease [ Time Frame: Through a participant questionnaire and retrospective review of medical records, neurological outcomes will be assessed for the entire lifetime of the participant up to the time of data collection. ]
Original Secondary Outcome: Neurological outcomes in pyruvate dehydrogenase deficiency disease [ Time Frame: The measure will be analyzed upon completion of the project, approximately 2 years. ]
Information By: University Hospitals Cleveland Medical Center
Dates:
Date Received: January 27, 2017
Date Started: September 2015
Date Completion: August 2019
Last Updated: February 16, 2017
Last Verified: February 2017
