Identifying genetic determinants of outcome in multiple sclerosis
ISRCTN | ISRCTN41688895 |
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DOI | https://doi.org/10.1186/ISRCTN41688895 |
IRAS number | 324856 |
Secondary identifying numbers | A096498, IRAS 324856 |
- Submission date
- 22/04/2023
- Registration date
- 04/05/2023
- Last edited
- 19/06/2025
- Recruitment status
- Not yet recruiting
- Overall study status
- Ongoing
- Condition category
- Nervous System Diseases
Plain English summary of protocol
Background and study aims
Multiple sclerosis (MS) is what scientists call an “autoimmune” disease. In such diseases the immune system is faulty and mistakenly attacks part of the body. In MS, this faulty attack is directed against the central nervous system (CNS); that is against the brain and the spinal cord. The damage caused by MS results in increasingly severe neurological disability that is known as disease “progression”. The rate at which this irreversible damage develops varies greatly between patients. Some become markedly disabled very quickly, while others develop little or no disability even after years. This study will examine the DNA code from people with MS in order to identify genetic factors that influence how quickly progression develops in the disease. That is, to identify changes in the DNA sequence that influence the outcome of the disease.
Who can participate?
People with MS who have had their disability recorded at least once using a clinical assessment called the Extended Disability Status Scale (EDSS). The EDSS is frequently measured in MS research studies and is now also often measured as part of routine clinical care.
What does the study involve?
The study involves the genetic analysis of DNA donated by participants. The DNA will be extracted either from venous blood or saliva collected from participants. The analysis of the DNA will be undertaken in the laboratory. The genetic data emerging from the laboratory analysis will be correlated with the demographic and clinical details collected about the participants.
What are the possible benefits and risks of participating?
This is an observational study in which the only intervention is the collection of venous blood. This collection will be undertaken by professional appropriately trained staff. The collection of venous blood is a routine procedure with no meaningful risk. The study will also involve the sharing of data about participants between the researchers involved in the study. All data sharing in the study will be undertaken in accordance with best practice and legal requirements such as GDPR. There are no benefits to participants from taking part in the study other than the knowledge that they are helping to bring effective treatments closer for future generations of patients.
Where is the study run from?
The University of Cambridge (UK)
When is the study starting and how long is it expected to run for?
September 2022 to September 2030
Who is funding the study?
Funding for the study is not yet confirmed
Who is the main contact?
Prof. Stephen Sawcer, sjs1016@cam.ac.uk
Contact information
Principal Investigator
Department of Clinical Neurosciences
Addenbrookes Hospital, BOX165
Hills Road
Cambridge
CB2 0QQ
United Kingdom
0000-0001-7685-0974 | |
Phone | +44 (0)1223 762040 |
sjs1016@cam.ac.uk |
Scientific
Department of Clinical Neurosciences
Addenbrookes Hospital, BOX165
Hills Road
Cambridge
CB2 0QQ
United Kingdom
Phone | +44 (0)1223 762040 |
---|---|
sjs1016@cam.ac.uk |
Public
Department of Clinical Neurosciences
Addenbrookes Hospital, BOX165
Hills Road
Cambridge
CB2 0QQ
United Kingdom
Phone | +44 (0)1223 762040 |
---|---|
sjs1016@cam.ac.uk |
Study information
Study design | Genome wide association screen |
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Primary study design | Observational |
Secondary study design | Epidemiological study |
Study setting(s) | Laboratory |
Study type | Other |
Participant information sheet | Not available in web format, please use the contact details to request a participant information sheet |
Scientific title | Progression in Multiple Sclerosis |
Study acronym | PIMS |
Study objectives | The primary aim of this study is to identify genetic variants influencing the clinical course of multiple sclerosis |
Ethics approval(s) | Not provided at time of registration |
Health condition(s) or problem(s) studied | Multiple sclerosis |
Intervention | The researchers will undertake array-based genome-wide genotyping in DNA extracted from patients' venous blood or saliva |
Intervention type | Genetic |
Primary outcome measure | Disability measured using the Extended Disability Status Scale (EDSS) and age-corrected to generate the Age-Related Multiple Sclerosis Severity (ARMSS) Score. All available measures of the ARMSS will be considered in the analysis as observed at any timepoint in the disease course. |
Secondary outcome measures | TIme to event measures including time to EDSS 6.0 and time to confirmed disability worsening. These variables will be assessed in the sub-group of patients with EDSS measured at multiple timepoints. |
Overall study start date | 01/09/2022 |
Completion date | 30/09/2030 |
Eligibility
Participant type(s) | Patient |
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Age group | Adult |
Sex | Both |
Target number of participants | 10000 |
Key inclusion criteria | 1. A locally confirmed diagnosis of multiple sclerosis 2. At least one measure of Extended Disability Severity Score (EDSS) 3. Able to give valid informed consent |
Key exclusion criteria | 1. Patients with Radiologically or Clinically Isolated Syndrome (RIS or CIS) 2. Comorbidities causing significant disability likely to have confounded the reliability of the EDSS 3. Inclusion in the discovery cohort of the recently completed first progression GWAS |
Date of first enrolment | 01/10/2025 |
Date of final enrolment | 30/09/2028 |
Locations
Countries of recruitment
- England
- United Kingdom
Study participating centre
Hills Road
Cambridge
CB2 0QQ
United Kingdom
Sponsor information
Hospital/treatment centre
Addenbrookes Hospital
Hills Road
Cambridge
CB2 0QQ
England
United Kingdom
Phone | +44 (0)1223 348490 |
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cuh.research@nhs.net | |
Website | http://www.cuh.org.uk/ |
https://ror.org/04v54gj93 |
Funders
Funder type
Other
No information available
Results and Publications
Intention to publish date | 01/06/2026 |
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Individual participant data (IPD) Intention to share | Yes |
IPD sharing plan summary | Stored in publicly available repository |
Publication and dissemination plan | Planned publication in a high-impact peer-reviewed journal |
IPD sharing plan | It is the researchers' intention to store the data generated in this study (demographic, clinical and genetic) in a genomics data repository such as the European Genome-Phenome Archive (EGA, https://ega-archive.org/). Anonymised data will be available when the results of the study are published by application to the Data Access Committee (DAC) via the repository. All participants will consent to data sharing with bona fide third-party researchers undertaking appropriate biomedical research. |
Editorial Notes
19/06/2025: The following changes were made to the trial record:
1. The recruitment start date was changed from 01/06/2023 to 01/10/2025.
2. The recruitment end date was changed from 01/06/2025 to 30/09/2028.
3. The overall end date was changed from 01/06/2025 to 30/09/2030.
4. The plain English summary was updated to reflect these changes.
24/04/2023: Trial's existence confirmed by the Cambridge University Hospitals NHS Foundation Trust.