Section 1 of 6
Terms and abbreviations
1 evidence topic · 0 sources
| Abbreviation | Term |
|---|---|
| 4-AP | 4-aminopyridine |
| 8MWT | 8-Meter Walk Test |
| 8WMT | 8-m walking time (component of the SCAFI) |
| 9HPT | 9-Hole Peg Test |
| 9HPT-D | 9-Hole Peg Test, dominant hand |
| 9HPT-ND | 9-Hole Peg Test, non-dominant hand |
| A-T, AT | Ataxia-telangiectasia |
| A-T NEST | Ataxia-Telangiectasia Neurological Examination Scale Toolkit |
| AAC | Augmentative and alternative communication |
| ADL | Acetyl-D-leucine |
| ADLL | Acetyl-DL-leucine |
| AEs | Adverse events |
| AFP | Alpha-fetoprotein |
| AHFS | American Hospital Formulary Service |
| AHFS DI | American Hospital Formulary Service Drug Information |
| AL | Acetyl-DL-leucine |
| ALCAT | Acetyl-DL-leucine on Cerebellar Ataxia (trial) |
| ALL | Acetyl-L-leucine |
| AR-HCA | Autosomal recessive hereditary cerebellar ataxia |
| ASHP | American Society of Health-System Pharmacists |
| AT-HIGM | Ataxia-telangiectasia with the hyper IgM phenotype and hypogammaglobulinemia |
| ATC | Anatomical Therapeutic Chemical classification |
| ATCC | Ataxia Telangiectasia Clinical Center (Johns Hopkins Hospital) |
| ATCP | Ataxia Telangiectasia Children's Project |
| ATM | Ataxia telangiectasia, mutated (gene and protein) |
| ATTeST | Ataxia Telangiectasia Trial with the EryDex System |
| AUC | Area under the curve |
| AUC0-24, AUC0-24hrs, AUC24h | Area under the plasma concentration-time curve from time 0 to 24 hours |
| BARS | Brief Ataxia Rating Scale |
| BCRP | Breast cancer resistance protein |
| BETA | Betamethasone |
| BMD | Bone mineral density |
| BMI | Body mass index |
| BMI-Z | Body mass index Z-score |
| BSEP | Bile salt export pump |
| CA | Cerebellar ataxia |
| CACNA1A | Calcium voltage-gated channel subunit alpha1 A (gene) |
| CATNAP | Childhood Ataxia Telangiectasia Neuroimaging Assessment Project |
| CCI | Controlled cortical impact |
| CCO | Coordinated Care Organization |
| CD4, CD8 | Cluster of differentiation 4, cluster of differentiation 8 |
| CDC | Centers for Disease Control and Prevention |
| cDNA | Complementary deoxyribonucleic acid |
| CFR | Code of Federal Regulations |
| CGI-I | Clinical Global Impression of Improvement |
| CGI-S | Clinical Global Impression of Severity |
| CHMP | Committee for Medicinal Products for Human Use |
| CI | Confidence interval |
| CI-CS | Clinical Impression of Change in Severity |
| CL/F | Apparent oral clearance |
| CLss/F | Apparent oral clearance at steady state |
| Cmax | Maximum concentration |
| CNS | Central nervous system |
| COA | Clinical outcome assessment |
| COI | Cost of illness |
| COVID-19 | Coronavirus disease 2019 |
| CSR | Clinical study report |
| CTIS | Clinical Trials Information System (European Union) |
| CYP | Cytochrome P450 |
| DBS | Dried blood spot |
| DDI | Drug-drug interaction |
| DDR | DNA damage response |
| DNA | Deoxyribonucleic acid |
| DSBs | Double strand breaks |
| DSMB | Data safety monitoring board |
| DSP | Dexamethasone sodium phosphate |
| EA | Each (unit of reimbursement) |
| EAP | Expanded Access Program |
| ECG | Electrocardiogram |
| eDSP | Erythrocyte encapsulated dexamethasone sodium phosphate |
| EFD | Embryo-fetal development |
| EFS | Event-free survival |
| eLIST | FDA automated drug registration and listing system |
| EMA | European Medicines Agency |
| EP | Extension Phase |
| EPAR | European public assessment report |
| EQ-5D | EuroQol 5-Dimension questionnaire |
| EQ-5D-5L | EuroQol 5-Dimension 5-Level questionnaire |
| EQ-5D-Y | EuroQol 5-Dimension questionnaire, Youth version |
| EQ-VAS, EQVAS | EQ-5D visual analogue scale |
| ESID | European Society for Immunodeficiencies |
| EU | European Union |
| FA | Fanconi anemia |
| FD&C Act, FDCA | Federal Food, Drug, and Cosmetic Act |
| FDA | Food and Drug Administration |
| FDG-PET | Fluorodeoxyglucose positron emission tomography |
| FEED | Fertility and early embryonic development |
| FFS | Fee-for-service |
| FRDA | Friedreich ataxia |
| fSARA, f-SARA | Functional Scale for the Assessment and Rating of Ataxia |
| FSH | Follicle-stimulating hormone |
| Fup | Follow-up |
| FVC | Forced vital capacity |
| G-tube, GT | Gastrostomy tube |
| GA2 | Asialo-GM2 ganglioside |
| GABA | Gamma-aminobutyric acid |
| GCL | Glutamate cysteine ligase |
| GCP | Good Clinical Practice |
| GI | Gastrointestinal |
| GLP | Good Laboratory Practice |
| GM2 | GM2 gangliosidoses |
| GSL | Glycosphingolipid |
| HC | Healthy control |
| HCPs | Healthcare professionals |
| hERG | Human ether-à-go-go-related gene |
| Hgb A1c | Hemoglobin A1c (glycated hemoglobin) |
| hiPNs | Human induced primary neurons |
| HL | Hodgkin lymphoma |
| HR | Hazard ratio |
| i.v. | Intravenous |
| IB1001 | IntraBio development code for N-acetyl-L-leucine (levacetylleucine) |
| IC50 | Half-maximal inhibitory concentration |
| ICARS | International Cooperative Ataxia Rating Scale |
| ICC | Intraclass correlation coefficient |
| ICD-10-CM | International Classification of Diseases, Tenth Revision, Clinical Modification |
| ICE | Intercurrent event |
| Ig | Immunoglobulin |
| IgA, IgE, IgG, IgM | Immunoglobulin A, immunoglobulin E, immunoglobulin G, immunoglobulin M |
| IgG2, IgG4 | Immunoglobulin G subclass 2, immunoglobulin G subclass 4 |
| IIV | Inter-individual variability |
| ILD | Interstitial lung disease |
| IMP | Investigational medicinal product |
| IMT | Inspiratory muscle training |
| INAS | Inventory of Non-Ataxia Symptoms |
| INN | International non-proprietary name |
| IQR | Interquartile range |
| IRCT | Iranian Registry of Clinical Trials |
| ITT | Intention-to-treat |
| Ka | Absorption rate constant |
| ke | Elimination rate constant |
| Ki | Inhibition constant |
| Km | Michaelis constant |
| kU/L | Kilounits per liter |
| LAT1 | L-type amino acid transporter 1 |
| LCL | Lymphoblastoid cell line |
| LDH | Lactate dehydrogenase |
| LH | Luteinizing hormone |
| LMM | Linear mixed model |
| LOCF | Last observation carried forward |
| LSMeans | Least squares means |
| MAA | Marketing Authorization Application |
| MATE | Multidrug and toxin extrusion protein |
| MCC | Mucociliary clearance |
| MCID | Minimal clinically important difference |
| MCT1 | Monocarboxylate transporter type 1 |
| MD | Maryland |
| MDR1 | Multidrug resistance protein 1 |
| MEA | Additional pharmacovigilance activity in the risk management plan (European Medicines Agency post-authorisation measure) |
| MedDRA | Medical Dictionary for Regulatory Activities |
| MHRA | Medicines and Healthcare products Regulatory Agency |
| mICARS | Modified International Cooperative Ataxia Rating Scale |
| mITT | Modified intention-to-treat |
| mITTe | Modified intention-to-treat analysis set, Extension Phase |
| MoA | Mechanism of action |
| MRHD | Maximum recommended human dose |
| MRI | Magnetic resonance imaging |
| MS | Multiple sclerosis |
| mSARA | Modified Scale for the Assessment and Rating of Ataxia |
| mTOR | Mechanistic target of rapamycin |
| MVN | Medial vestibular nucleus |
| NADAC | National Average Drug Acquisition Cost |
| NADL | N-acetyl-D-leucine |
| NADLL | N-acetyl-DL-leucine |
| NALL | N-acetyl-L-leucine |
| NBS | Newborn screening |
| NCE | New chemical entity |
| NCT | National Clinical Trial (ClinicalTrials.gov identifier) |
| NDA | New Drug Application |
| NDC | National Drug Code |
| NEAT | Neurologic Effects of EryDex on Subjects with A-T (trial) |
| NeuroQOL | Quality of Life in Neurological Disorders |
| NeuroQOL-UEF | NeuroQOL Scale of Upper Extremity Function |
| NfL | Neurofilament light chain |
| NHL | Non-Hodgkin lymphoma |
| NHS | National Health Service |
| NMDA | N-methyl-D-aspartate |
| NPC | Niemann-Pick disease type C |
| NPC1 | NPC intracellular cholesterol transporter 1 (gene and protein) |
| NR | Nicotinamide riboside |
| OAT | Organic anion transporter |
| OATP | Organic anion transporting polypeptide |
| OCT | Organic cation transporter |
| ODE | Orphan drug exclusivity |
| OHP | Oregon Health Plan |
| OS | Overall survival |
| P-gp | P-glycoprotein |
| PA | Prior authorization |
| PAN | Periodic alternating nystagmus |
| PATA | Timed speech task counting spoken repetitions of the syllables PATA within 10 seconds (component of the SCAFI) |
| PCs | Purkinje cells |
| PD | Pharmacodynamics |
| PDH | Pyruvate dehydrogenase |
| PDL | Preferred Drug List |
| PDUFA | Prescription Drug User Fee Act |
| PedsQL | Pediatric Quality of Life Inventory |
| PEG | Percutaneous endoscopic gastrostomy |
| PET | Positron emission tomography |
| PGI | Patient's global impression of change |
| PI | Principal Investigator |
| PK | Pharmacokinetics |
| PMC | Postmarketing commitment |
| PMR | Postmarketing requirement |
| PP | Per protocol |
| PPK | Population pharmacokinetics |
| PPND | Pre- and postnatal development |
| PRO | Patient-reported outcome |
| PROMIS | Patient-Reported Outcomes Measurement Information System |
| PRV | Priority review voucher |
| Q1 | First quarter |
| QoL, QOL | Quality of life |
| QT/QTC | QT interval and QT interval corrected for heart rate |
| RBCs | Red blood cells |
| rCGM | Regional cerebral glucose metabolism |
| RCTs | Randomized controlled trials |
| REC | Recommendation (European Medicines Agency post-authorisation measure) |
| RmICARS | Rescored modified International Cooperative Ataxia Rating Scale |
| RMP | Risk management plan |
| RoB 2 | Cochrane risk-of-bias tool for randomized trials, version 2 |
| ROS | Reactive oxygen species |
| RTI | Respiratory tract infection |
| RWE | Real-world evidence |
| SAEs | Serious adverse events |
| SAF | Safety Analysis Set |
| SAP | Statistical analysis plan |
| SARA | Scale for the Assessment and Rating of Ataxia |
| SAS | Statistical Analysis System (software) |
| SCA | Spinocerebellar ataxia |
| SCAFI | Spinocerebellar Ataxia Functional Index |
| SCID | Severe combined immunodeficiency |
| SD | Standard deviation |
| SE | Standard error |
| SF-36 | 36-Item Short Form Health Survey |
| SIR | Standardized incidence ratio |
| SLP | Speech-language pathologist |
| SMAC | State Maximum Allowable Cost |
| SmPC | Summary of product characteristics |
| sNDA | Supplemental new drug application |
| SOC | Standard of care |
| SOD1, SOD2 | Superoxide dismutase 1, superoxide dismutase 2 |
| SPL | Structured product labeling |
| SULT | Sulfotransferase |
| T-PLL | T-cell prolymphocytic leukemia |
| T1, T2 | Time point 1, time point 2 |
| T1/2 | Elimination half-life |
| TBD | To be determined |
| TBI | Traumatic brain injury |
| TEAEs | Treatment-emergent adverse events |
| TFEB | Transcription factor EB |
| Tlag | Absorption lag time |
| Tmax | Time to maximum concentration |
| TQT | Thorough QT |
| TREC | T-cell receptor excision circle |
| TRM | Treatment-related mortality |
| TX | Texas |
| UGT | Uridine diphosphate glucuronosyltransferase |
| UK | United Kingdom |
| UN | Unstructured (covariance structure) |
| US, U.S., USA | United States |
| USD | U.S. dollars |
| USP | United States Pharmacopeia |
| vA-T | Variant ataxia-telangiectasia |
| VAS | Visual analogue scale |
| Vd/F | Apparent volume of distribution |
| Vmax | Maximum velocity (Michaelis-Menten kinetics) |
| VOR | Vestibulo-ocular reflex |
| Vss/F | Apparent (oral) volume of distribution |
| WAC | Wholesale acquisition cost |
| WHO | World Health Organization |
| μPET | Micro positron emission tomography |