A prospective natural history study to enhance understanding of the phenotypes associated with a type I interferonopathies
Type I interferonopathies / Posted 1 year ago
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:
- 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.
- 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 will request data to be sent securely via letter or email.