Section 1 of 6
Terms and abbreviations
1 evidence topic · 0 sources
| Abbreviation | Term |
|---|---|
| 6MWT | Six-minute walk test |
| AA | Accelerated approval |
| AAV | Adeno-associated virus |
| AAV1 | Adeno-associated virus serotype 1 |
| AAV2 | Adeno-associated virus serotype 2 |
| AAV5 | Adeno-associated virus serotype 5 |
| AAV6 | Adeno-associated virus serotype 6 |
| AAV8 | Adeno-associated virus serotype 8 |
| AAV9 | Adeno-associated virus serotype 9 |
| AAVrh74 | Adeno-associated virus serotype rh74 (rhesus isolate 74) |
| AAVRh74var | Variant of adeno-associated virus serotype rh74 |
| ABC | Adaptive Behavior Composite (Vineland Adaptive Behavior Scales) |
| ACC | American College of Cardiology |
| ACE | Angiotensin-converting enzyme |
| ACEI | Angiotensin-converting enzyme inhibitor |
| ACHD | Adult congenital heart disease |
| ACM | Arrhythmogenic cardiomyopathy |
| AD | Autosomal dominant |
| ADA | Anti-drug antibody |
| adj-WAC | Inflation-adjusted wholesale acquisition cost |
| AE | Adverse event |
| AF | Atrial fibrillation |
| AFL | Atrial flutter |
| AFP | Alpha-fetoprotein |
| AHA | American Heart Association |
| AHF | Advanced heart failure |
| AHFS | American Hospital Formulary Service |
| aHUS | Atypical hemolytic uremic syndrome |
| AI | Artificial intelligence |
| AICD | Automatic implantable cardioverter-defibrillator |
| AKI | Acute kidney injury |
| ALF | Acute liver failure |
| ALI | Acute liver injury |
| ALP | Alkaline phosphatase |
| ALT | Alanine aminotransferase |
| AMP | Adenosine monophosphate |
| ANC | Absolute neutrophil count |
| AP | Accessory pathway |
| APHP | Assistance Publique-Hôpitaux de Paris (Paris public hospital system) |
| AR | Autosomal recessive |
| ARB | Angiotensin receptor blocker |
| ARDS | Acute respiratory distress syndrome |
| ARM | Alliance for Regenerative Medicine |
| ARNI | Angiotensin receptor-neprilysin inhibitor |
| ASGCT | American Society of Gene & Cell Therapy |
| ASP | Average sales price |
| ASST | Azienda Socio Sanitaria Territoriale (Italian regional health and social care authority) |
| AST | Aspartate aminotransferase |
| ATG14 | Autophagy related 14 |
| ATMP | Advanced therapy medicinal product |
| AUD | Australian dollars |
| AV | Atrioventricular; autophagic vacuole |
| AVM | Autophagic vacuolar myopathy |
| AVSF | Autophagic vacuoles with sarcolemmal features |
| BAG3 | BAG cochaperone 3 gene |
| BAG3-DCM | BAG3-associated dilated cardiomyopathy |
| BCVA | Best corrected visual acuity |
| BLA | Biologics License Application |
| BNP | B-type natriuretic peptide |
| BP | Blood pressure |
| BR | Bilirubin |
| BSC | Best supportive care |
| BUN | Blood urea nitrogen |
| C3 | Complement component 3 |
| C4 | Complement component 4 |
| C5 | Complement component 5 |
| C5b-9 | Terminal complement complex (membrane attack complex) of complement components C5b through C9 |
| CABG | Coronary artery bypass grafting |
| CACNA1C | Calcium voltage-gated channel subunit alpha1 C gene |
| CAG | Synthetic promoter combining the cytomegalovirus enhancer, the chicken beta-actin promoter, and the rabbit beta-globin splice acceptor |
| CAP | College of American Pathologists |
| CAT | Committee for Advanced Therapies (European Medicines Agency) |
| CB7 | Promoter combining the cytomegalovirus enhancer and the chicken beta-actin promoter |
| CBC | Complete blood count |
| CCD | Coiled coil domain |
| CD20 | Cluster of differentiation 20 (B-cell surface antigen) |
| CD34 | Cluster of differentiation 34 (hematopoietic stem and progenitor cell marker) |
| CDC | Centers for Disease Control and Prevention |
| CEO | Chief executive officer |
| cGMP | Current good manufacturing practice |
| CGT | Cell and gene therapy |
| CHD | Congenital heart disease |
| CHF | Congestive heart failure |
| CHOP | Children's Hospital of Philadelphia |
| CHU | Centre hospitalier universitaire (university hospital center, France) |
| CI | Confidence interval |
| CIED | Cardiac implantable electronic device |
| CIOMS | Council for International Organizations of Medical Sciences |
| CIRM | California Institute for Regenerative Medicine |
| CK | Creatine kinase |
| CK-MB | Creatine kinase-MB (myocardial band isoenzyme) |
| CLIA | Clinical Laboratory Improvement Amendments |
| ClinGen | Clinical Genome Resource |
| CLS | Capillary leak syndrome |
| CM | Cardiomyopathy; cardiomyocyte |
| CMC | Chemistry, manufacturing, and controls |
| CMR | Cardiac magnetic resonance |
| cMRI | Cardiac magnetic resonance imaging |
| CMS | Centers for Medicare & Medicaid Services |
| COVID-19 | Coronavirus disease 2019 |
| CPET | Cardiopulmonary exercise test |
| CPK | Creatine phosphokinase |
| CRE | Cardiac Rehabilitation (HEDIS measure) |
| CRL | Complete response letter |
| CRT | Cardiac resynchronization therapy |
| CRT-D | Cardiac resynchronization therapy with a defibrillator |
| CRTD | Cardiac resynchronization therapy with a defibrillator |
| CTCAE | Common Terminology Criteria for Adverse Events |
| CTIS | Clinical Trials Information System (European Union) |
| cTnI | Cardiac troponin I |
| cTnT | Cardiac troponin T |
| CV | Cardiovascular |
| CVD | Cardiovascular death |
| D/C | Discontinued |
| DAS-II | Differential Ability Scales, Second Edition |
| DCM | Dilated cardiomyopathy |
| DD | Danon disease |
| DES | Desmin gene |
| DMD | Duchenne muscular dystrophy; dystrophin gene |
| DNA | Deoxyribonucleic acid |
| dP/dTmax | Maximum rate of rise of left ventricular pressure |
| dP/dTmin | Maximum rate of fall of left ventricular pressure |
| DRG | Dorsal root ganglia |
| DSG2 | Desmoglein 2 gene |
| E/A | Ratio of early (E) to late (A) mitral inflow velocities |
| EC | European Community |
| ECG | Electrocardiogram |
| ECHO | Echocardiogram |
| ECMO | Extracorporeal membrane oxygenation |
| eCNV | Exonic copy number variant |
| ECV | Extracellular volume |
| EEA | European Economic Area |
| EF | Ejection fraction |
| EFS | Event-free survival |
| eGFR | Estimated glomerular filtration rate |
| EHR | Electronic health record |
| EKG | Electrocardiogram |
| ELISA | Enzyme-linked immunosorbent assay |
| ELISpot | Enzyme-linked immunospot assay |
| EM | Electron microscopy |
| EMA | European Medicines Agency |
| EMB | Endomyocardial biopsy |
| EMBASE | Excerpta Medica database |
| EMG | Electromyography |
| EP | Electrophysiology |
| EPS | Electrophysiological study |
| ESC | European Society of Cardiology |
| EU | European Union |
| EU5 | Five largest European markets (France, Germany, Italy, Spain, and the United Kingdom) |
| FA | Fanconi anemia |
| FARA | Friedreich's Ataxia Research Alliance |
| FC | Flow cytometry |
| FDA | US Food and Drug Administration |
| FHL1 | Four and a half LIM domains 1 gene |
| FK506 | Tacrolimus |
| FLNC | Filamin C gene |
| FSIQ | Full Scale Intelligence Quotient |
| FVC | Forced vital capacity |
| FVP | Fasciculoventricular pathway |
| GAA | Acid alpha-glucosidase gene |
| GAD | Generalized anxiety disorder |
| GC | Genome copies |
| GC/kg | Genome copies per kilogram of body weight (also written gc/kg) |
| GCA | General Conceptual Ability (Differential Ability Scales composite score) |
| GGT | Gamma-glutamyltransferase |
| GLA | Alpha-galactosidase A gene |
| GLS | Global longitudinal strain |
| GM1 | GM1 gangliosidosis |
| GMP | Good manufacturing practice |
| GSD | Glycogen storage disease |
| GT | Gene therapy |
| GTMP | Gene therapy medicinal product |
| H&E | Hematoxylin and eosin |
| HBcAb | Hepatitis B core antibody |
| HBeAg | Hepatitis B e antigen |
| HBPB | Health benefit price benchmark |
| HBsAg | Hepatitis B surface antigen |
| HBV | Hepatitis B virus |
| HC | Hypertrophic cardiomyopathy |
| HC-60 | Polyoxyl 60 hydrogenated castor oil |
| HCM | Hypertrophic cardiomyopathy |
| HCP | Healthcare professional |
| HCV | Hepatitis C virus |
| HEDIS | Healthcare Effectiveness Data and Information Set |
| HEK-293 | Human embryonic kidney 293 cell line |
| HF | Heart failure |
| HFH | Heart failure hospitalization |
| HFpEF | Heart failure with preserved ejection fraction |
| HFrEF | Heart failure with reduced ejection fraction |
| HFRH | Heart failure-related hospitalization |
| HFSA | Heart Failure Society of America |
| HHF | Hospitalization for heart failure |
| hiPSC | Human induced pluripotent stem cell |
| hiPSC-CMs | Human induced pluripotent stem cell-derived cardiomyocytes |
| HIV | Human immunodeficiency virus |
| HR | Hazard ratio |
| HRSA | Health Resources and Services Administration |
| HRU | Healthcare resource utilization |
| hs-cTnT | High-sensitivity cardiac troponin T |
| hs-TnI | High-sensitivity troponin I |
| HSPC | Hematopoietic stem and progenitor cell |
| hsTnI | High-sensitivity troponin I |
| HT | Heart transplantation |
| HTx | Heart transplant |
| I2 | I-squared statistic for heterogeneity |
| ICD | Implantable cardioverter-defibrillator; International Classification of Diseases |
| ICD-10 | International Classification of Diseases, 10th Revision |
| ICD-10-CM | International Classification of Diseases, 10th Revision, Clinical Modification |
| ICD-11 | International Classification of Diseases, 11th Revision |
| ICER | Institute for Clinical and Economic Review; incremental cost-effectiveness ratio |
| IDC | Idiopathic dilated cardiomyopathy |
| IDSMC | Independent data and safety monitoring committee |
| IEP | Individualized Education Program |
| IgG | Immunoglobulin G |
| IgM | Immunoglobulin M |
| IHC | Immunohistochemistry |
| IKEM | Institute for Clinical and Experimental Medicine (Institut klinické a experimentální medicíny, Czechia) |
| IM | Immunomodulatory |
| IMR | Immunomodulatory regimen |
| IND | Investigational New Drug application |
| INN | International Nonproprietary Name |
| INR | International normalized ratio |
| IP | Investigational product |
| iPSC | Induced pluripotent stem cell |
| iPSC-CMs | Induced pluripotent stem cell-derived cardiomyocytes |
| IQ | Interquartile |
| IQR | Interquartile range |
| IRCCS | Istituto di Ricovero e Cura a Carattere Scientifico (Italian research hospital designation) |
| ITR | Inverted terminal repeat |
| IU | International unit |
| IU/L | International units per liter |
| IV | Intravenous |
| IVS | Interventricular septum |
| IVSd | Interventricular septum thickness at end-diastole |
| KCCQ | Kansas City Cardiomyopathy Questionnaire |
| KCCQ-12 | 12-item Kansas City Cardiomyopathy Questionnaire |
| KO | Knockout |
| LAD-I | Leukocyte adhesion deficiency type I |
| LAMP-2 | Lysosome-associated membrane protein 2 |
| LAMP-2A | Lysosome-associated membrane protein 2 isoform A |
| LAMP-2B | Lysosome-associated membrane protein 2 isoform B |
| LAMP-2C | Lysosome-associated membrane protein 2 isoform C |
| LAMP2 | Lysosome-associated membrane protein 2 (gene and protein); written Lamp2 for the mouse gene |
| LAMP2A | Lysosome-associated membrane protein 2 isoform A |
| LAMP2B | Lysosome-associated membrane protein 2 isoform B |
| LAMP2C | Lysosome-associated membrane protein 2 isoform C |
| LC3 | Microtubule-associated protein 1 light chain 3 |
| LC3-II | Lipidated form of microtubule-associated protein 1 light chain 3, a marker of autophagosomes |
| LDH | Lactate dehydrogenase |
| LFT | Liver function test |
| LGE | Late gadolinium enhancement |
| LLN | Lower limit of normal |
| LNP | Lipid nanoparticle |
| LoF | Loss of function |
| LP | Likely pathogenic |
| LTFU | Long-term follow-up |
| LV | Left ventricular |
| LVAD | Left ventricular assist device |
| LVEDD | Left ventricular end-diastolic dimension |
| LVEF | Left ventricular ejection fraction |
| LVH | Left ventricular hypertrophy |
| LVmass | Left ventricular mass |
| LVMI | Left ventricular mass index |
| LVOTO | Left ventricular outflow tract obstruction |
| LVPWd | Left ventricular posterior wall thickness at end-diastole |
| LVWT | Left ventricular wall thickness |
| LYG | Life year gained |
| MACE | Major adverse cardiac event |
| MAPK | Mitogen-activated protein kinase |
| MCS | Mechanical circulatory support |
| MDD | Major depressive disorder |
| MedDRA | Medical Dictionary for Regulatory Activities |
| MEDLINE | Medical Literature Analysis and Retrieval System Online |
| MI | Myocardial infarction |
| MPS | Mucopolysaccharidosis |
| MR | Magnetic resonance |
| MRI | Magnetic resonance imaging |
| mRNA | Messenger ribonucleic acid |
| mTOR | Mechanistic target of rapamycin |
| MWT | Maximal wall thickness |
| MYBPC3 | Myosin-binding protein C3 gene (cardiac myosin-binding protein C) |
| MYH7 | Myosin heavy chain 7 gene (beta-myosin heavy chain) |
| N/A | Not applicable |
| NAb | Neutralizing antibody |
| NASDAQ | Nasdaq Stock Market |
| NCI | National Cancer Institute |
| NCQA | National Committee for Quality Assurance |
| NGS | Next-generation sequencing |
| NH | Natural history |
| NHP | Non-human primate |
| NHS | Natural history study |
| NIH | National Institutes of Health |
| NIS | National Inpatient Sample |
| NP | Natriuretic peptide; not performed |
| NSAA | North Star Ambulatory Assessment |
| NT-proBNP | N-terminal pro-B-type natriuretic peptide |
| NTproBNP | N-terminal pro-B-type natriuretic peptide |
| NYHA | New York Heart Association |
| OBA | Outcomes-based agreement |
| OCT | Optical coherence tomography |
| OE | Overexpression |
| oHCM | Obstructive hypertrophic cardiomyopathy |
| OHT | Orthotopic heart transplantation |
| OMIM | Online Mendelian Inheritance in Man |
| ONL | Outer nuclear layer |
| OP | Outpatient |
| OPTN | Organ Procurement and Transplantation Network |
| OR | Odds ratio |
| ORPHAcode | Orphanet rare disease nomenclature code |
| P/LP | Pathogenic or likely pathogenic |
| pAAV | Plasmid carrying an adeno-associated virus vector genome |
| PBS | Phosphate-buffered saline |
| PCI | Percutaneous coronary intervention |
| PCQLI | Pediatric Cardiac Quality of Life Inventory |
| PCR | Plan All-Cause Readmissions (HEDIS measure); polymerase chain reaction |
| PCWp | Pulmonary capillary wedge pressure |
| PDCO | Paediatric Committee (European Medicines Agency) |
| PedsQL | Pediatric Quality of Life Inventory |
| PGI-C | Patient Global Impression of Change |
| PGI-S | Patient Global Impression of Severity |
| Ph1 | Phase 1 |
| PHIS | Pediatric Health Information System |
| PIP | Paediatric investigation plan |
| PKD | Pyruvate kinase deficiency |
| PKP2 | Plakophilin 2 gene |
| PKP2-ACM | PKP2-associated arrhythmogenic cardiomyopathy |
| PLN | Phospholamban gene |
| PP | Percentage points |
| PQ | Interval from the onset of the P wave to the onset of the QRS complex on the electrocardiogram |
| PR | Interval from the onset of the P wave to the onset of the QRS complex on the electrocardiogram |
| PRIME | Priority Medicines scheme (European Medicines Agency) |
| PRKAG2 | Protein kinase AMP-activated non-catalytic subunit gamma 2 gene |
| Pro-BNP | Pro-B-type natriuretic peptide |
| PRV | Priority review voucher |
| PT | Prothrombin time |
| PTPN11 | Protein tyrosine phosphatase non-receptor type 11 gene |
| PV | Pathogenic variant |
| Q3 | Third calendar quarter |
| Q4 | Fourth calendar quarter |
| QALY | Quality-adjusted life-year |
| QoL | Quality of life |
| QP | Qualified person (European Union batch certification) |
| qPCR | Quantitative polymerase chain reaction |
| QRS | Ventricular depolarization complex on the electrocardiogram |
| QTC | Qualified treatment center |
| rAAV | Recombinant adeno-associated virus |
| rAAV9 | Recombinant adeno-associated virus serotype 9 |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase gene |
| RAS | Renin-angiotensin system; rat sarcoma family of signaling proteins |
| rBG | Rabbit beta-globin polyadenylation signal |
| RCT | Randomized controlled trial |
| RIT1 | Ras-like without CAAX 1 gene |
| RMAT | Regenerative Medicine Advanced Therapy |
| RNA | Ribonucleic acid |
| RQ | Respiratory quotient |
| RV | Right ventricle |
| RVH | Right ventricular hypertrophy |
| RW | Real-world |
| S-ICD | Subcutaneous implantable cardioverter-defibrillator |
| SAD | Social anxiety disorder |
| SADS | Sudden arrhythmia death syndromes |
| SAE | Serious adverse event |
| sC5b-9 | Soluble terminal complement complex (soluble membrane attack complex) |
| sC5b9 | Soluble terminal complement complex (soluble membrane attack complex) |
| Sca-1 | Stem cell antigen 1 |
| SD | Standard deviation |
| SD-OCT | Spectral-domain optical coherence tomography |
| SMA | Spinal muscular atrophy |
| SMN | Survival motor neuron |
| SMN1 | Survival motor neuron 1 gene |
| SOC | Standard of care |
| SPEC | Specialty Drug Evidence and Coverage database (Tufts Medical Center) |
| SRTR | Scientific Registry of Transplant Recipients |
| SSI | Supplemental Security Income |
| SST | Single or short-term therapy |
| STS | Sit-to-stand |
| SUSAR | Suspected unexpected serious adverse reaction |
| T1 | Longitudinal relaxation time on cardiac magnetic resonance mapping |
| T2 | Transverse relaxation time on cardiac magnetic resonance mapping |
| TAb | Total antibody |
| TG | Trigeminal ganglia |
| TIA | Transient ischemic attack |
| TMA | Thrombotic microangiopathy |
| TnI | Troponin I |
| TNNI3 | Cardiac troponin I gene |
| TNNT2 | Cardiac troponin T gene |
| TPM1 | Tropomyosin 1 gene |
| TTN | Titin gene |
| TTP | Thrombotic thrombocytopenic purpura |
| TTR | Transthyretin gene |
| TUG | Timed Up and Go test |
| TV-ICD | Transvenous implantable cardioverter-defibrillator |
| U/L | Units per liter |
| UC | University of California |
| UCL | University College London |
| UCSD | University of California, San Diego |
| UK | United Kingdom |
| ULN | Upper limit of normal |
| US | United States |
| USA | United States of America |
| USD | US dollars |
| USP | United States Pharmacopeia |
| UTC | Coordinated Universal Time |
| VAD | Ventricular assist device |
| VAMP8 | Vesicle-associated membrane protein 8 |
| VCN | Vector copy number |
| VF | Ventricular fibrillation |
| vg | Vector genomes |
| vg/kg | Vector genomes per kilogram of body weight |
| VMA21 | Vacuolar ATPase assembly factor VMA21 gene |
| VO2 | Oxygen uptake |
| VOE | Vaso-occlusive event |
| VP | Ventricular preexcitation |
| VT | Ventricular tachycardia |
| VUS | Variant of uncertain significance |
| WAC | Wholesale acquisition cost |
| WB | Western blot |
| WBC | White blood cell |
| WPRE | Woodchuck hepatitis posttranscriptional regulatory element |
| WPW | Wolff-Parkinson-White |
| WT | Wild type |
| XL | X-linked |
| Xq24 | Band q24 on the long arm of the X chromosome |