Natural history study of selected type 1 interferonopathies
Research type
Research Study
Full title
Natural History Study of Selected Type 1 Interferonopathies Based on Data of Medical Records
IRAS ID
353971
Contact name
Jayakara Shetty
Contact email
Sponsor organisation
Boehringer Ingelheim International GmbH
Duration of Study in the UK
0 years, 3 months, 15 days
Research summary
Type 1 interferonopathies are a recently defined group of ultra-rare inherited autoinflammatory diseases, characterised by a dysregulation of the interferon (IFN) pathway, leading to constitutive upregulation of its activation mechanisms or downregulation of negative regulatory systems.
Little is known about the natural history, clinical outcomes, and clinical relevance of biomarkers in these complex diseases, but clinical damage accumulates over time leading to progressive organ injury and early mortality. Currently, there are no regulatory-approved treatments for type 1 interferonopathies. Thus, there is high unmet medical need in this patient population.
This observational, non-interventional study (ONIS) based on patient’s medical records will help to address these evidence gaps in four type 1 interferonopathy syndromes, Aicardi-Goutières syndrome (AGS, selected mutations), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), familial chilblain lupus (FCL) and coatomer protein subunit alpha (COPA) syndrome, as well as undifferentiated interferonopathies with selected genetic mutations. These data will be of utmost importance to support the development of novel therapies for these diseases.REC name
London - Stanmore Research Ethics Committee
REC reference
25/PR/0430
Date of REC Opinion
13 May 2025
REC opinion
Further Information Favourable Opinion