Mitochondrial Diseases clinical trials at University of California Health

4 in progress, 1 open to eligible people

Showing trials for

  • North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

    open to all eligible people

    The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

    at UCSD

  • Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease

    Sorry, accepting new patients by invitation only

    The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical study or treatment plan. The study will continue until vatiquinone becomes commercially available or the program is terminated.

    at UCSD

  • Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)

    Sorry, in progress, not accepting new patients

    SPIMD-301 is a 48-week, randomized, double-blind, parallel-group, placebo-controlled trial to assess efficacy and safety of single daily subcutaneous (SC) administration of elamipretide as a treatment for subjects with primary mitochondrial myopathy associated with nuclear DNA mutations (nPMD).

    at UCSD

  • Longitudinal Study of Mitochondrial Hepatopathies

    Sorry, currently not accepting new patients, but might later

    The specific aims of this study are (1) to determine the clinical phenotypes and natural history of hepatic RC and FAO disorders, (2) to determine the correlation between genotype and phenotype, (3) to determine if circulating biomarkers reflect diagnosis and predict liver disease progression and survival with the native liver, (4) to determine the clinical outcome of these disorders following liver transplantation, and (5) to develop a repository of serum, plasma, urine, tissue and DNA specimens that will be used in ancillary studies. To accomplish these aims, the ChiLDREN investigators at clinical sites (currently 15 sites) will prospectively collect defined data and specimens in a uniform fashion at fixed intervals in a relatively large number of subjects. Clinical information and DNA samples to be collected from subjects and their parents will enhance the potential for meaningful research in these disorders. A biobank of subject specimens and DNA samples will be established for use in ancillary studies to be performed in addition to this study.

    at UCSF

Our lead scientists for Mitochondrial Diseases research studies include .

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