Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
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|ClinicalTrials.gov Identifier: NCT03056794|
Recruitment Status : Recruiting
First Posted : February 17, 2017
Last Update Posted : May 5, 2020
|Condition or disease||Intervention/treatment|
|Pyruvate Dehydrogenase Complex Deficiency Disease||Other: No intervention|
Pyruvate dehydrogenase complex deficiencies (PDCDs) 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, "Advanced Genetic Study and Pilot Newborn Screening for Disorders of Pyruvate Metabolism," will continue with the created database with information that is collected over a long period of time about patients with PDCDs. This database is 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 75 subjects with confirmed PDCD will be enrolled over 5 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 of the study are:
- Continue to add to the Pyruvate Dehydrogenase Complex Deficiencies (PDCDs) 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
About this Study:
This study will collect comprehensive longitudinal natural history clinical data for proven Pyruvate Dehydrogenase Complex deficiencies (PDCDs), including data about diagnoses, symptoms, and outcomes. The study will include data from patients/parents as well as medical data. The investigators will use medical records and a short questionnaire targeted to collect information about critical outcomes. This questionnaire will collect information from the subject and parent about the importance of different outcomes and allow families to discuss other outcomes that they may consider important at home. Additional details of treatment will be sought to maximize our knowledge about their effects and serve to inform future clinical trials.
Data Dictionary: On file at Data Monitoring Core Council in Cincinnati Children's Hospital Medical Center and has been provided to investigators at University Hospitals Cleveland Medical Center.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||75 participants|
|Target Follow-Up Duration:||5 Years|
|Official Title:||Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)|
|Study Start Date :||September 2015|
|Estimated Primary Completion Date :||August 2024|
|Estimated Study Completion Date :||August 2024|
Pyruvate Dehydrogenase Complex Deficiency Disease
Other: No intervention
This is an observational study. The investigators will collect data about exposure to responses to dietary supplements, medications, and the ketogenic diet.
- 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. ]Survival will be measured in years and months.
- 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. ]The number of participants with each neurological outcome will be assessed by analyzing questionnaire and medical record data. Neurological outcomes include, but are not limited to, developmental delay/intellectual disability, seizures, muscle weakness and abnormalities of tone, ataxia, neuropathy, dysautonomia, involuntary movements, microcephaly, hearing loss, and ophthalmologic abnormalities/ vision impairment.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03056794
|Contact: Genya Kisinemail@example.com|
|Contact: Jirair K. Bedoyan, MD, PhD||216-844-3936 ext firstname.lastname@example.org|
|United States, Ohio|
|University Hospitals Cleveland Medical Center||Recruiting|
|Cleveland, Ohio, United States, 44106|
|Principal Investigator: Jirair K. Bedoyan, MD|
|Principal Investigator: Suzanne D. DeBrosse, MD, PhD|
|Sub-Investigator: Douglas S. Kerr, MD, PhD|
|Principal Investigator:||Jirair K. Bedoyan, MD, PhD||University Hospitals Cleveland Medical Center|
|Principal Investigator:||Suzanne D. DeBrosse, MD||University Hospitals Cleveland Medical Center|