- Adherence
- Adverse event
- Adverse reaction
- Analyze
- Animal model
- Anonymize
- Antigen
- Antisense Oligonucleotide (ASO)
- Arm
- Assent
- Assent form
- Assessment
- Basal ganglia
- Baseline assessment
- Basket trial
- Bias (research)
- Bilateral
- Biomarker
- Blood draw
- Brain lesions
- Brainstem
- Cell therapy
- Central nervous system
- Cerebellum
- Clinical benefit
- Clinical research
- Clinical Research Coordinator (CRC)
- Clinical trial
- Clinician
- Cohort
- Comparative Effectiveness Research (CER)
- Computerized Tomography (CT) Scan
- Confidence interval
- Confidentiality
- Confounding
- Consent form
- Control group
- Correlation
- Data
- Data Monitoring Committee/Data and Safety Monitoring Board (DMC/DSMB)
- Degenerative
- Diagnostic markers
- Discontinue
- Disease-free survival
- Disease progression
- DNA
- Double-blind study
- E-consent (form)
- Efficacy
- Eligibility criteria
- Emergency Use Authorization (EUA)
- Endpoint
- Exclusion criteria
- Exome
- Expanded access
- FDA
- Gastrostomy Tube (G-Tube)
- Gene
- Gene therapy
- Genetic diagnosis
- Genetic mutations
- Genome
- Healthy volunteer
- Heteroplasmy
- Homoplasmy
- Hypothesis
- Immune system
- Incidence
- Inclusion criteria
- Informed consent
- Infusion
- Inheritance
- Institutional Review Board (IRB)
- Intervention
- Investigational product
- Investigator
- In vitro
- In vivo
- Lactic acid
- Leigh syndrome
- Longitudinal study
- Magnetic Resonance Imaging (MRI)
- Mean
- Median
- Metabolic
- Mitochondria
- Mitochondrial DNA
- Multicenter trial
- Necrotic
- Neurometabolic
- Neuropathologist
- Non-inferiority trial
- Nuclear DNA
- Nucleus
- Observational study
- Odds ratio
- Off-label
- Open-label
- Outcome
- Outcome measure
- Panel testing
- Patient registry
- Patient Reported Outcomes (PROs)
- Peer review
- Pharmacodynamic (PD) study
- Pharmacodynamics
- Pharmacokinetic (PK) study
- Pharmacokinetics
- Phase
- Placebo-controlled study
- Preclinical research
- Preclinical study
- Prevalence
- Primary endpoint
- Primary mitochondrial disease
- Progression-free survival
- Protocol
- Proxy
- Pyruvate dehydrogenase deficiency
- Quality of Life (QOL)
- Questionnaire
- Randomization
- Randomized controlled trial
- Red blood cells
- Safety
- Sample size
- Schedule of assessments
- Secondary endpoint
- Side effect
- Single-blind study
- Small molecule
- Standard of care
- Statistically significant
- Study design
- Study participant
- Study population
- Superiority trial
- Targeted testing
- Toxicology
- Validate
- 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/
