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Pyruvate Dehydrogenase Deficiency - ClinicalTrials.gov

Summarized by Plex Scholar
Last Updated: 09 June 2022

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Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)

"In up to a quarter of confirmed PDC deficient patients, who have not been found to have a definite mutation in DLD or any of the five "primary's genes" and who may benefit from different therapies, according to the study. This report will include information about diagnoses, signs, and outcomes, as well as data regarding Pyruvate Complex Deficiencies specific database within the NAMDC Patient Data Registry. On file at the Data Monitoring Core Council in Cincinnati Children's Hospital Medical Center and has been offered to investigators at University Hospitals Cleveland Medical Center "output:" On file at University Hospitals Cleveland Medical Center Investigators.

Source link: https://clinicaltrials.gov/ct2/show/NCT03056794

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions