Mito Action

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Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life. It causes debilitating physical, developmental, and cognitive disabilities with symptoms including poor growth; loss of muscle coordination; muscle weakness and pain; seizures; vision and/or hearing loss; gastrointestinal issues; learning disabilities; and organ failure. For many patients, mitochondrial disease is an inherited condition that runs in families. An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins. It is estimated that 1 in 4,000 people has Mito. It’s progressive and there is no cure.

Last updated 04/30/2026

Clinical

Disease Class

Mitochondrial disease

Body Systems

Cardiovascular / Circulatory

Digestive

Endocrine

Metabolic

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Adrenal glands

Bladder

Bones

Brain

Connective tissue / joints

Ears

Esophagus

Eyes

Gallbladder

Heart

Intestines

Kidneys

Liver

Lungs

Lymph fluid, nodes, ducts, vessels

Mouth / teeth

Muscles

Nerves

Pancreas

Parathyroid

Pituitary glands

Spinal cord

Spleen

Stomach

Throat/pharynx

Thyroid

Trachea, cervical

Veins

Known Genetic Link

Yes, genetic factors contribute to the risk or severity of the condition

Causative Genes

None specified / unknown

Contributory Genes

None specified / unknown

Type of Inheritance

Mitochondrial

Newborn Screening

Yes, for some genes

Yes, in some states

Disease Mechanism(s)

Mitochondrial disorder

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Average Age at Diagnosis

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Middle childhood (6-11)

Affected Sex(es)

Female

Intersex

Male

National Prevalence

10000+

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Less than 10

Symptoms / Phenotypes

breathing difficulties

developmental delay

feeding difficulties

headaches / migraines

hearing loss / hearing impairment

hypotonia

intellectual delay / global developmental delay

muscle weakness

myalgia / muscle pain

seizures / epilepsy

vision problems

Biomarkers

Diagnostic

· Lactate and pyruvate: Initial blood tests that can indicate possible mitochondrial disease Lactate:pyruvate ratio: A biomarker for mitochondrial disease Creatine kinase: A biomarker for mitochondrial disease Amino acid profiles: A biomarker for mitochondrial disease FGF-21 and GDF-15: Metabokines that are messengers of mitochondrial stress response Oxidative stress markers: Biomarkers that indicate mitochondrial disease Circulating cytokines: Biomarkers that indicate mitochondrial disease

Monitoring

Prognostic

Therapeutic

Existing Therapies

Expanded access (Compassionate Use)

Off-Label Drug Use

Regulatory Agency-Approved for Symptom Relief

· Dijolvi for LCHADD only

Therapies in Development

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

Devices/medical equipment

Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)

Gene therapy

Immunotherapy

Repurposed drug

Small molecule therapy (novel small molecule drugs)

Surgical & interventional

Therapeutic Development Stages

Approved/Available

Awaiting final regulatory decision

IND/CTA submitted but not approved

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

None

Disease Model, share

N/A

Organizational Challenges

Funding

Clinical Trial Role

Data sharing

Focus group

Meeting with regulators

Outcome measures, development

Recruitment and outreach, patients

Results dissemination, publication

Study protocol design, review

Clinical Trial Types

Observational

Phase 1

Phase 2

Phase 3

Phase 4

Biobank, Institution

NIH

Biobank, Involvement

Consulted

Center of Excellence, Institution

Unspecified

Center of Excellence, Involvement

Consulted

Designed

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

Other

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Patient-reported outcomes

Platform, Natural History Study

Not specified

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

Yes

ICD Codes

We are working on obtaining an ICD-10 code

Diagnostic Guidelines

Yes, we have guidance available on our website

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

We don't have a Research Roadmap

None

Asia

Europe

Middle East

North America

South America

Europe