Glossary

Indexes: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

A

Absorption, Distribution Metabolism and Excretion/ Toxicology (ADME/T): A test that measures what happens to a compound when it goes into the body.
Active Pharmaceutical Ingredient (API): Any substance or mixture of substances contained in a medicine that is intended to cause pharmacological activity, i.e.. have an effect on the body.
Activity of Daily Living: The ‘‘Activity of Daily Living’’, or ADL score is a measure of a persons ability to perform certain basic tasks such as bathing, dressing, and speaking. It is assessed by a patient or caregiver using a validated 36-point ordinal scale.
Adrenergic alpha-2 receptors: A specific receptor which is activated by the hormones adrenaline and noradrenalin in the human brain and other tissues. Adrenergic alpha-2 receptors regulate mental state, pain sensation, blood pressure and other normal bodily functions.
Agonist: A chemical entity that acts to produce the same or similar effect as the body’s own chemical messenger would. See Receptor.
Amyotrophic lateral sclerosis: Amyotrophic Lateral Sclerosis (ALS, sometimes called Maladie de Charcot, or, in the United States, Lou Gehrig's Disease) is a progressive neurodegenerative disease caused by the degeneration of motor neurons. ALS is usually fatal.
Animal model: An animal with a disease that is similar to a human condition. Such “models” are used to study the disease and/or to test new drug candidates in ways which would not be possible in a human patient before a medicine enters clinical trials.
Anorexia: Loss of appetite resulting in reduced food intake and consequently in weight loss. The weight loss occurs mainly from fat tissue and only a small amount of muscle is lost.
ANOVA: Analysis of variance. A statistical method used to analyse the results of clinical trials.
Antagonist: A chemical entity that counteracts or neutralises the action of the body’s normal chemical messenger or another foreign chemical entities in the body. See Receptor.
Apoptosis: A form of programmed cell death in multicellular organisms.
Ataxia: A failure of muscular coordination or irregularity of muscular action.
ATP (Adenosine 5’-triphosphate): A molecule, which transports chemical energy within cells in the body.
Atrophy: See muscle atrophy.

C

Ca2+: Calcium.
Cachexia: Loss of weight, muscle atrophy, fatigue, weakness and anorexia. It can be a sign of various underlying disorders, including cancer.
Calpain: A calcium-activated proteinase that itself activates several cellular enzymes.
Cardiac Tissue Doppler Imaging: Cardiac Tissue Doppler Imaging (TDI) is a non-invasive method for the assessment of cardiac function. It provides direct, local measurements of myocardial velocities throughout the cardiac cycle. By means of TDI, ventricular dysfunction in hypertrophic cardiomyopathy can be revealed even before the development of left ventricular hypertrophy.
Cardiomyopathy: Deterioration of the function of the heart muscle. Cardiomyopathy typically leads to signs and symptoms of heart failure, as the pumping efficiency of the heart is diminished.
cGMP: current Good Manufacturing Practice.
Charcot-Marie-Tooth neuropathies (CMT): Charcot-Marie-Tooth disease is a heterogeneous inherited disorder of the nerves. It is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease.
CHMP: Committee for Medicinal Products for Human Use is responsible for preparing the EMA's opinions on all questions concerning medicinal products for human use.
Clinical trial: Clinical trials are conducted to evaluate new drug candidates in patients in a strictly scientifically controlled setting. Such trials are designed to assess safety and efficacy of a potential new therapy.
CMC: Chemistry Manufacture & Control.
Coenzyme Q10 (Ubiquinone): A substance that naturally occurs in the body and is involved in the production of energy in cells.
COMP: Committee for Orphan Medicinal Products is responsible for reviewing applications from persons or companies seeking 'orphan medicinal product designation' for products they intend to develop for the diagnosis, prevention or treatment of life-threatening or very serious conditions that affect not more than 5 in 10,000 persons in the European Union.
Compassionate use: A procedure for providing experimental therapies to severely affected patients where no other treatment option exists prior to their regulatory approval for use in humans. Often, case-by-case approval must be obtained from the regulatory authorities for ‘‘compassionate use’’. See Named Patient Program.
Congenital: A disease that is present at birth.
Congenital Muscular Dystrophy (CMD): CMD is a devastating condition characterized by progressive loss of muscle tissue which in severe forms can affect newborn babies (“floppy infant syndrome”).
Contract Research Organisation (CRO): A company involved in performing clinical research on a contract basis for a pharmaceutical company, research organisation, or other health organisation.
Corticosteroids: A class of steroid hormones related to those produced in the adrenal cortex, such as cortisone. They are involved in a wide range of physiologic systems and are useful anti-inflammatory and immunosuppressive agents.
Cytokine: Proteins made by cells in the body that affect the behaviour of other cells. They act on specific cytokine receptors on the cells they on which they are acting.

D

Dopamine: A hormone-like substance that is an important messenger in the brain. It acts as a precursor of adrenaline and the closely related noradrenaline. Imbalanced dopamine activity can cause brain dysfunction and diseases like schizophrenia and Parkinson’s disease.
Dopaminergic drugs: Drugs used to replace the deficiency of dopamine at dopamine receptors in the nerve endings, especially in the brain when treating Parkinson's disease.
Double-blind: In a double-blind clinical trial, neither the investigators nor the trial participants know whether the patient is being administered a placebo or the test drug in order to reduce bias in the results of the trial.
DPD: Parkinson’s Disease (PD) related dyskinesia. See Dyskinesia.
DPP-IV: Dipeptidyl-peptidase IV. is a protein which in humans is encoded by the DPP4 gene.
Duchenne Muscular Dystrophy (DMD): DMD is a serious genetic, neuromuscular disease that affects males of all ethnicities. DMD affects motor skills, results in progressive muscle loss and skeletal deformities, including spinal deformation, and eventually leads to respiratory failure and cardiac complications that result in premature death.
Dyskinesia: A broad range of abnormal involuntary movements.
Dystrophin: Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.

E

Echocardiography: Echocardiography is a diagnostic test that uses ultrasound waves to produce an image of the heart muscle and the heart's valves. It is widely used to diagnose heart disease.
Efficacy: The ability of a drug to control, cure or effectively treat an illness.
EMA: The European Medicines Agency is a decentralised body of the European Union with headquarters in London. Its main responsibility is the protection and promotion of public and animal health, through the evaluation and supervision of medicines for human and veterinary use.

F

FARS: Friedreich’s Ataxia Rating Scale a neurological rating scale specifically developed for FRDA. The FARS includes assessments of stance, gait, upper and lower limb coordination, speech, proprioception and strength.
Fast track designation: Fast track designations are granted by the FDA to facilitate the development and expedite the review of new drugs or biologics that are intended to treat serious or life-threatening conditions and that demonstrate the potential to address unmet medical need.
FDA: The US Food and Drug Administration is responsible for protecting the public health by assuring the safety, efficacy, and security of human and veterinary drugs, biological products, medical devices, our nation’s food supply, cosmetics, and products that emit radiation.
Fipamezole: Fipamezole is an antagonist of the adrenergic alpha-2 receptors and offers a novel and unique mode of action to treat DPD.
Friedreich’s Ataxia (FA): A disease characterised by impairment of limb coordination, with weakness and muscle wasting. Clinical onset generally starts in childhood or adolescence. The severity and progression of the disorder vary. It is often associated with diabetes and heart disease.

G

GCP: Good Clinical Practice is an international ethical and scientific quality standard for designing, conducting, recording, and reporting trials that involve the participation of human subjects.
Genome: The DNA content of a cell.
Glyceraldehyde 3-phosphate dehydrogenase: Glyceraldehyde 3-phosphate dehydrogenase is an enzyme that is involved in the break down of glucose for energy and carbon molecules.
Guillain-Barré syndrome: Guillain-Barré syndrome is an autoimmune disease affecting the peripheral nervous system, usually triggered by an acute infectious process.

H

Huntington ’s disease: Huntington’s disease is a genetic neurological disorder characterized by uncoordinated, jerky body movements called chorea and a decline in some mental abilities, which can lead to affected behaviour.
Hypothalamus: The area of the brain that produces hormones that regulate thirst, hunger, body temperature, sleep, moods, sex drive, and the release of hormones from various glands.

I

ICARS: International Cooperative Ataxia Rating Scale a commonly used clinician-rated measure, in types of Ataxia, such as Friedreich's ataxia.
Idebenone: Idebenone is a small molecule optimized to facilitate the transport of electrons within mitochondria.
In vitro: A biological or biochemical process occurring outside of a living organism.
In vivo: A biological or biochemical process occurring inside a living organism.
IND: Investigational New Drug in the United States program is the means by which a pharmaceutical company obtains permission to ship an experimental drug across state lines (usually to clinical investigators) before a marketing application for the drug has been approved.
INN: International Non-Proprietary Name facilitate the identification of pharmaceutical substances or active pharmaceutical ingredients. Each INN is a unique name that is globally recognized and is public property. A nonproprietary name is also known as a generic name.
INSERM: Institut National de la Sant´e et de la Recherche Medicale is the only French public organization entirely dedicated to biological, medical and public health research. Its researchers are committed to studying all human illnesses, whether common or rare.
Investigational New Drug Application (IND): A request for authorisation from the FDA to administer an investigational drug or biological product to humans.
IP: Intellectual Property.

L

L-dopa/levodopa: l-3-(3,4-dihydroxyphenyl)alanine, the levorotatory stereoisomer of dopa, which is the immediate metabolic precursor of dopamine. In contrast to dopamine L-dopa penetrate the brain and is used to alleviate some of the symptoms of Parkinson’s disease.
Leber’s Hereditary Optic Neuropathy (LHON): A disorder of central vision loss caused by a gene inherited from the mother’s mitochondria.

M

MAA: Marketing Authorisation Application with the EMA.
MC4-R: Melanocortin 4 Receptor.
Mitochondria: Organelles in the cell responsible for processes of respiration and phosphorylation to convert organic materials into energy in the form of ATP.
Monoamine oxidase Type B: Monoamine oxidase Type B is a human gene located in the mitochondrial outer membrane.
Muscle atrophy: Wasting or loss of muscle tissue resulting from a lack of use. Atrophy is often used to describe muscle wasting.
Muscle wasting: See Muscle wasting. See Wasting.
Muscular dystrophies (MD): A group of inherited diseases characterised by weakness and wasting of the affected skeletal muscles without the breakdown of nerve tissue. The wasting is not inflammatory and results in a loss of strength with increasing disability.
Myasthenia gravis: Myasthenia gravis is a neuromuscular disease leading to fluctuating muscle weakness and fatigue.
Myopathy: A myopathy is a neuromuscular disease in which the muscle fibers do not function for any one of many reasons. This results in muscular weakness.
Myotonic dystrophy: Myotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age.

N

Named patient program: The means by which a medical practitioner can prescribe certain un-licensed medicines where there is unmet clinical need and no approved drug is available.
NDA: New Drug Application with the FDA. is the vehicle through which drug sponsors formally propose that the FDA approve a new pharmaceutical for sale and marketing in the United States.
Neurological diseases: Diseases that affect the central nervous system, the peripheral nervous system or the autonomous nervous system.
Neuromuscular: Related to the function of nerves and muscles.
NIH: National Institutes of Health is a part of the U.S. Department of Health and Human Services and is the primary Federal agency for conducting and supporting medical research.
NINDS: National Institute of Neurological Disorders and Stroke conducts and supports research on brain and nervous system disorders. Created by the U.S. Congress in 1950, NINDS is one of the more than two dozen research institutes and centers that comprise the National Institutes of Health (NIH).
NMD: Neuromuscular disease.
noradrenergic: Stimulated by or releasing norepinephrine (noradrenaline) an endogenous (the body’s own) substance with dual roles as a hormone and a neurotransmitter.

O

Off-Label use: The use of a drug in a way neither approved nor permitted to be put on its label and advertised as its intended purpose.
Omigapil: Omigapil is a compound derived from and structurally related to R(-)deprenyl (selegiline) but unlike selegiline exhibits virtually no monoamine oxidase Type B inhibiting activity and is not metabolized to amphetamines.
OMP: Orphan Medicinal Product, See orphan drug.
Ophthalmic diseases: Disorders of the eye.
Oromucosal formulation: A dosage form that disintegrates quickly in the mouth. The dissolved active substance is absorbed by the oral mucosa and not in the gastrointestinal tract as with conventional oral dosage forms.
Orphan drug: A drug developed for rare diseases and conditions. In the US this is defined as a disease which affects fewer than 200,000 people, or in the EU one which affects five or less per 10,000 people.
Orphan drug designation: A designation of the FDA and EMA to grant orphan drug status once a drug has received marketing approval.
Orphan drug status: Orphan drug designation becomes orphan drug status when marketing approval has been granted for a medicine. Such status provides certain benefits including a certain time period of marketing exclusivity.
Oxidation: A process by which a compound gives up electrons, acting as an electron donor, and in the process becomes oxidised.

P

PCT: Patent Cooperation Treaty of June 19, 1970.
Pharmacokinetics (PK): What happens to a drug once it enters the body. This includes uptake, distribution, elimination and biotransformation. See ADME/T.
Phase I: Initial safety studies in humans. These may include as few as 10 subjects, often healthy volunteers, and include PK, ADME/T and dose escalation studies to determine safety of a potential medicine. These are usually open-label studies.
Phase II: Following the initial safety phase (Phase I) testing, a drug is tested for efficacy, typically in blinded, randomised trials, in which a control group receives placebo. Phase II testing may last from several months to two years. It includes assessment of PK, dose ranging, safety and efficacy.
Phase III: Following Phase II testing, a drug is tested in a large scale setting to determine effectiveness, benefits, and the range of possible adverse reactions. Most Phase III studies are randomised, double-blinded, and typically last several years. Once Phase III trials are successfully completed, a pharmaceutical company can request approval for marketing the drug e.g. by filing an NDA or MAA.
Placebo: A substance with no pharmacological action administered to a control group in a clinical trial. This helps to ensure that the action of the medicine being tested is not due to psychological effects.
Pre-clinical (development): The phase of drug discovery and development which precedes testing of a medicine in humans.
Prevalence: A measure of the proportion of people in a population that are affected with a particular disease at any one time.
Proof-of-concept: A study conducted to prove whether the drug candidate is effective in animals or humans before the drug development process can move forward.
Proteasome: A large protein complex that degrades proteins that have been tagged for elimination, particularly those tagged by ubiquitination. This reaction requires ATP.
Proteinase: Any enzyme that catalyses the splitting of proteins into smaller peptide fractions and amino acids by a process known as proteolysis.

Q

Q1-Q4: Quarters (three month periods) of the year (1-4).

R

R&D: Research and development (of medicinal compounds).
R(-)deprenyl (selegiline): A drug used for the treatment of early-stage PD, depression and senile dementia.
Randomised (controlled trial): Assigning patients at random, which reduces the risk of bias and increases the probability that differences between the groups in a clinical trial can be attributed to the treatment being studied.
Receptor: A specialised protein structure on the cell surface or inside the cell which relays information from one cell to another. This information is delivered by chemical messengers called transmitters.
Reduction: A process by which a compound accepts electrons to become reduced.
Regulatory approval (Registration): Marketing approval granted by regulatory authorities following a positive assessment of a new drug application (in the US) or marketing authorisation application (in the EU).

S

Scoliosis: Abnormal, side to side curvature of the spine (backbone). Larger curves can lead to posture imbalance, muscle fatigue, and back pain. Severe scoliosis can interfere with breathing.
SIRT: SIRT proteins, also called sirtuins, are deacelylases and have asignalling function in the body.
Spinal cord injury: Spinal Cord Injury is an injury to the spinal cord that results in paralysis and loss of sensation.
Spinal muscular atrophy (SMA): Spinal Muscular Atrophy is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem.
Spinocerebellar ataxias: Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right.

T

Troublesome dyskinesia: Dyskinesia which severely interferes with the patient’s daily activity and is compared to a non-troublesome dyskinesia or no dyskinesia.

U

Ubiquinone: See Coenzyme Q10.

W

Wasting: A general term mainly used to describe an involuntary weight loss due to inadequate food intake and lack of muscle use (as seen in starvation).


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