Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding mitochondrial disease is limited due to its complex nature and the fact that it affects a relatively small number of individuals worldwide. The genetic basis for these disorders has only recently begun to be understood, and systematic clinical studies are still ongoing. This makes it challenging to compile comprehensive clinical data and phenotypic descriptions.
To navigate mitochondrial disease, consider seeking a specialist in metabolic disorders or a neurologist with expertise in mitochondrial conditions. Additionally, connecting with patient organizations such as MitoAction (https://mitoaction.org), the Children’s Mitochondrial Disease Network (https://cmdn.org.uk), and the United Mitochondrial Disease Foundation (https://umdf.org) can provide valuable resources and support. Participating in a patient registry or natural history study may also offer insights into your condition and contribute to ongoing research.
There are currently 206 active clinical trials investigating various aspects of mitochondrial disease. While there are no orphan drug designations, this active research landscape offers hope for future treatment options. You can explore these clinical trials further at ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=mitochondrial%20disease.
Actionable guidance for navigating care for mitochondrial disease
To navigate mitochondrial disease, consider seeking a specialist in metabolic disorders or a neurologist with expertise in mitochondrial conditions. Additionally, connecting with patient organizations such as MitoAction (https://mitoaction.org), the Children’s Mitochondrial Disease Network (https://cmdn.org.uk), and the United Mitochondrial Disease Foundation (https://umdf.org) can provide valuable resources and support. Participating in a patient registry or natural history study may also offer insights into your condition and contribute to ongoing research.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the mitochondrial disease community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 10, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
3 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 5 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.