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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
tracey
Briggs
tracy.briggs@manchester.ac.uk
Miss
Laura
Crowther
laura.crowther@cmft.nhs.uk
Other congenital malformations
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
The immune system is complex and involves many chemicals, including type I interferon. The system must be finely balanced as too much interferon can itself cause ill health. Indeed, a change in one of several different genes can cause too much interferon to be produced. The problems that occur due to this differ depending upon which gene is changed, but can include problems with the brain, skin, lungs or bones. These conditions are called type I interferonopathies.
For this study we are looking to collect detailed information about the long-term effects of having one of these types of conditions. We hope that by gaining more information about how these types of conditions develop, we will be able to provide better counselling for patients who have been diagnosed and also to design better treatments in the future.
We will be approaching patients in 2 ways:
1) New patients that present to their local genetics centre and have had a confirmed diagnosis of type I interferonopathy will be invited at their appointment. These patients will be invited to attend yearly visits (either locally or in Manchester) so we can collect ongoing clinical data.
2) Patients previously seen in their local genetics clinic who aren't likely to have a follow up appointment in the near future can be approached by postal invite. For these patients, we will only collect retrospective data up to when they've consented. At a later date, these patients may be invited to take part in the prospective part of the study which involves yearly visits to collect ongoing data.
At annual visits, patients will undergo clinical assessment and provide blood samples.
We wish to roll out the study to all UK Genetics Centres under the Musketeers Memorandum (MM). For patients recruited at MM sites, we wil request data to be sent securely via letter or email.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Cohort study;
You can take part if:
You may not be able to take part if:
Patients without a 
confirmed molecular diagnosis of a type I interferonopathy Patients with a second genetic diagnosis, as this may inhibit accurate phenotyping.
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
The study is sponsored by University of Manchester and funded by MEDICAL RESEARCH FOUNDATION; NIHR Academy; .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 33429
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
