- Adverse event
- Adverse reaction
- Animal model
- Anonymize
- Antisense Oligonucleotide (ASO)
- Arm
- Assessment
- Basal ganglia
- Baseline assessment
- Bilateral
- Biomarker
- Blood draw
- Brain lesions
- Brainstem
- Cell therapy
- Central nervous system
- Cerebellum
- Clinical benefit
- Clinical research
- Clinical trial
- Clinical trial
- Cohort
- Computerized Tomography (CT) Scan
- Confidentiality
- Control group
- Data
- Degenerative
- Diagnostic markers
- Discontinue
- Disease progression
- DNA
- Dose-response Relationship
- Double-blind study
- Efficacy
- Eligibility criteria
- Endpoint
- Exclusion criteria
- Exome
- FDA
- Gastrostomy Tube (G-Tube)
- Gene
- Gene therapy
- Genetic diagnosis
- Genetic mutations
- Genome
- Healthy volunteer
- Heteroplasmy
- Homoplasmy
- Immune system
- Inclusion criteria
- Informed consent
- Infusion
- Inheritance
- Institutional review board (IRB)
- Intervention
- Investigational product
- In vitro
- In vivo
- Lactic acid
- Leigh syndrome
- Magnetic Resonance Imaging (MRI)
- Metabolic
- Mitochondria
- Mitochondrial DNA
- Multicenter trial
- Necrotic
- Neurometabolic
- Neuropathologist
- Non-inferiority trial
- Nuclear DNA
- Nucleus
- Observational study
- Outcome
- Outcome measure
- Panel testing
- Patient registry
- Pharmacodynamics
- Pharmacokinetics
- Pharmacokinetic Study (PK study)
- Phase
- Preclinical research
- Preclinical study
- Primary mitochondrial disease
- Protocol
- Pyruvate dehydrogenase deficiency
- Questionnaire
- Randomization
- Red blood cells
- Side effect
- Single-blind study
- Small molecule
- Standard of care
- Study design
- Study participant
- Study population
- Superiority trial
- Targeted testing
- Toxicology
- Whole exome sequencing (WES)
- Whole genome sequencing (WGS)
- Withdraw
- X chromosome
- X-linked genetic disease
- X-ray
- Y chromosome
Glossary Terms
Mark and Daniel, Ukraine

We would like to thank MRCT Center of Brigham and Women’s Hospital and Harvard for developing many terms in this glossary and allowing us to use them as part of our glossary. Please find more information and their complete glossary at: https://mrctcenter.org/