Clinical Trials

Inclusion Criteria:

• Age birth-100 years, male or female, any race/ethnicity
• Potential participant shall have a confirmed diagnosis of a mitochondrial disease or a suspected diagnosis based on a review of clinical history by a Mitochondrial Disease Biobank working group member using the clinical criteria listed in the table below
• Selected participants shall have at least two documented conditions contained within the minor clinical criteria
  • Minor Criteria
    • Symptoms compatible with a mitochondrial defect
    • Smaller numbers of RRF or widespread electron microscopy abnormalities of mitochondria
    • Antibody-based demonstration of an mito defect or residual activity of an mito complex 20%–30% in a tissue, 30%–40% in a cell line, or 30%–40% in >2 tissues
    • Fibroblast ATP synthesis rates 2–3 SD below mean, or fibroblasts unable to grow in galactose media
    • Nuclear or mtDNA mutation of probable pathogenicity
    • One or more metabolic indicators of impaired metabolic function
• OR one condition in the major criteria with evidence of a condition in the minor criteria, will be considered for inclusion of a participant of appropriate age
  • Major Criteria
    • Multi-systemic symptoms characteristic of mito disorder
    • Progressive clinical course with episodes of exacerbation
    • A family history strongly indicative of an mtDNA mutation
    • Exclusion of other metabolic or non-metabolic disorders
    • >2% ragged red fibers (RRF) in skeletal muscle
    • Cytochrome c oxidase negative fibers (>2-5%) or residual activity of a mito complex <20% in a tissue; <30% in a cell line, or <30% in >2 tissues
    • Fibroblast ATP synthesis rates >3 SD below mean
    • Nuclear or mtDNA mutation of undisputed pathogenicity
• 1st-degree relatives of affected participants (described above) are also invited to participate in the project.
• In addition, samples from participants with one of the following mitochondrial disease diagnosis will be included:
  • Alpers’ progressive sclerosing poliodystrophy 
  • Barth syndrome 
  • CPEO 
  • Dominant optic atrophy
  • Friedriech’s Ataxia
  • Hereditary paraganglioma 
  • Hereditary spastic paraplegia 
  • Kearns-Sayre syndrome Leber hereditary optic neuroretinopathy
  • Leigh and Leigh-like Syndrome 
  • MELAS 
  • MERRF
  • NARP 
  • Pearson syndrome 
  • Wolfram syndrome 
  • Mitochondrial fatty acid oxidation disorder 
  • Urea cycle defect

Exclusion Criteria:

• Unwilling to provide informed consent
• Unwilling to consent to providing biospecimens to be stored in the biobank for an indefinite amount of time and to be used in future research studies of as yet unknown design
• Does not have a diagnosis of mitochondrial disease or clinical symptoms that are indicative of a potential mitochondrial disease as determined by a chart review by at least one Individualized Medine Biobank for Mitochondrial Disease working-group member