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Glossary

A

Adverse Severity
Adverse Severity represents the level of severity of a Symptom.
Adverse Relation
Adverse Relation represents an assessment of the strength of the relationship between a symptom and an intervention.
Amino Acid
An Amino Acid is created by the Spliceosome after reading Codon instructions in the DNA. Amino Acids are combined to make Proteins.
Antisense Oligonucleotides
Antisense Oligonucleotide is a technique used to skip exons. Exons are areas of a gene, like chapters in a book. Skipping an exon allows faulty genetic material to be ignored and full length dystrophin to be produced.
Antisense Oligonucleotides Trials
Antisense Oligonucleotides trials are clinical trials designed to test the safety and efficacy in humans. A different trial is required for each exon.

B

Base Pair
The basic constituent of DNA, can be either “C”, “T”, “A” or “G”. Base pairs combine in triplets to form codes, called, “Codons”.

C

Chromosome
A chromosome represents a large area of DNA that contains Genes.
Codon
A Code is a basic instruction in the DNA, which consists of three Base Pairs. Each Codon tells the Spliceosome to make an Amino Acid.
Country
A country represents a nation state. Location
Clinical Trial
A Clinical Trial represents a trial for a drug, over several phases.
Clinical Trial Phase
A Clinical Trial Phase represents a trial phase for a drug. Based on the US and UK human trial standards.

D

Data Protection Act
The Data Protection Act (1998) is Government Legislation that protects the Privacy and Processing of an individual’s data by requiring consent for that data to be held and processed.
Disease
A Disease represents a disease in the body.
DNA
Deoxyribonucleic acid is a chemical that carries a long series of Base Pairs.
DNA Change Type
The DNA Change Type represents the type of change within the DNA.
Dystrophin
Dystrophin refers to both the Dystrophin Gene and the Dystrophin Protein.
Dystrophin Gene
The Dystrophin Gene is the DNA containing the Instructions for the Dystrophin Protein
Dystrophin Protein
The Dystrophin Protein is One of a number of Proteins that helps strengthen muscle walls.

E

Exon
An Exon is a section of a Gene that contains DNA that is read. Every Gene contains alternating Exons and Introns.
Exon Skipping
Exon Skipping is the ability to cause an Exon to be ignored. The end result of ignoring an Exon will mean the final Protein that is produced by the Cell is missing a small section. If this skipped Exon contained a Variant, then this Variant will not be in the final Protein.

F

Familial Type
The Familial Type represents from which parent a genetic Variant was inherited.
Frequency Type
Frequency Type represents whether a thing happens a number of times within a period, or a number every amount of periods.

G

Gender
The gender represents sex of a Person.
Gene
A Gene represents a gene in the human body

H

I

Inheritance Type
The Inheritance Type represents how a genetic Variant was inherited from a parent. Gender
Intervention
An Intervention represents an enumerated set of treatments that can be a Product or Action. For example a Product might include Steroids and an Action might include Heel Cord Surgery.
Intervention Status
Intervention Status represents the status of a course of treatments, for example whether it was completed or stopped.
Intervention Type
Intervention Type represents the type of intervention, for example drug or procedure.
Intron
An Intron is a section of a Gene that contains DNA that is not read. Every Gene contains alternating Exons and Introns.

J

K

L

Location
A location represents an abstract place, such as region or hospital. This table can be used for filtering data to keep the volumes down.

M

Management Committee
The Management Committee is a small committee of PPUK member responsible for the oversight of the Registry.
Medical Admission Type
A Medical Admission Type represents the type of Admission to hospital.
Muscle Centre
A Muscle Centre is a specialist Hospital that caters for muscle diseases.
Multi Centre Research Ethical Committee (M.R.E.C)
An M.R.E.C is a government body responsible for ensuring that research following ethical guidelines.
Mutation
Mutation is another word for Variant.

N

North Star Project
The North Start Project is a Clinical Research project to assess the use of Steroids.

O

Operations Committee
The Operations Committee is composed of a member of PPUK and Javelin Software responsible for the day to day running of the Registry.
Organisation Type
Organisation Type represents a classification of NHS organisations.

P

Participant
A Participant represents a Person with Variant information.
Participant Intervention
A Participant Intervention represents an instance or regime of Intervention for a Participant. An instance includes a one off action, such as an operation. A regime includes starting (and stopping) a treatment, such as steroids
Participant Symptom
A Participant Symptom represents the assessment of an Adverse Symptom for a Participant. For example mild fever for 3 days that may not be related to the treatment.
Periodicity
Periodicity represents a period of time, such as Daily or Annually.
Person
A Person represents a Participant, Guardian, Researcher or Professional Health Worker.
Person Type
Person Type represents the role of a Person in relation to the Registry.
Privacy Level
Privacy Level represents a level of access scope.
Product
A Product is a product that can be used as a Medication.
Product Condition
Product Condition indicates when a product should be taken, for example Before Meals.
Product Name Type
Product Name Type represents the major classification types for product names.
Product Route
A Product Route a means delivering a Product (e.g. oral).
Product Form
A Product Form is the form a Product Takes (e.g. tablet).
Protein
A Protein is an Assembly of Amino Acids.
Protein Change Type
The Protein Change Type represents the type of change in the Protein caused by a variant in the DNA.

Q

R

Relative Type
Relative Type represents the relationship of one Person to another.
Research
Research means medical research whose goal is to improve treatments. Research may or may not involve a Clinical Trial.
Research Assessment
Research Assessment represents a Participant assessment for a research project. For example, a Research Assessment can be a Physiological or Steroid Assessment.
Role Type
Role Type represents the way of categorising People for the purpose of Permissions. One of Administrator, Health Professional, Researcher or Participant/Guardian.

S

Splice Site
A Splice Site is the DNA between an Exon and an Intron. As the Spliceosome reads along the Exon it stops reading at the 5’ splice site (the Intron) and starts reading again at the 3’ splice site (another Exon).
Spliceosome
A Spliceosome is the cellular machinery that reads along the DNA in a Gene.
Steering Committee
The Steering Committee is composed of five senior clinical and research figures that are responsible for authorising access to the Registry by other clinicians and researchers.
Stop Codon Type
The Stop Codon Type is the one of the three types of Codons that stops the Spliceosome from reading the DNA.
Study Allocation
Study Allocation represents whether a Study is randomised or non-randomised.
Study Assignment
Study Assignment represents how the participants are to be grouped.
Study Control
Study Control represents how the benefit of the study is to be determined.
Study Endpoint
Study End Point represents what how the drug is being measured, for example safety or efficacy.
Study Masking
Study Masking represents whether the study is blind or open.
Study Phase
Study Phase represents the stage of a clinical trial.
Study Purpose
Study Purpose represents why the study is being carried out.
Study Status
Study Status represents milestones in a study phase, such as completed.
Study Type
Study Type represents whether the study is interventional or observational.
Symptom
A Symptom represents an Adverse Event, such as nausea or fever.

T

Technique
A Technique is a means of finding the mutation

U

Unit of Measure
A Unit of Measure is used to measure Products

V

Variant
A Variant represents a genetic Mutation. Variants are described using the HGCV/Leiden Variant nomenclature.
Variant Location Type
The Variant Location Type represents the type of location with a Gene, for example an Intron or Exon.

W

X

Y

Z

Action Duchenne

The DMD Registry is sponsored and controlled by Action Duchenne UK Limited (Action Duchenne Ltd), and has been registered under the Data Protection Act (1998).

Treat NMD

The DMD Registry is part of the Treat-NMD Network.

The DMD Registry - Helping to win the race against time