The study is currently in progress.
If you have patients diagnosed with Coronin 1A deficiency and are interested in contributing to this study, please contact Dr. Despina Moshous at Despina.moshous@inserm.fr and Dr. Reem Elfeky at reem.elfeky@gosh.nhs.uk to discuss how you can contribute to this important research.
Your participation will help better understand the disease, its clinical spectrum, and genotype-phenotype correlations, ultimately leading to improved patient care and outcomes.
Proposed by: Reem Elfeky, Bénédicte Neven, Despina Moshous, Valentina Guarnieri
The main objective of this study is to significantly improve our understanding of Coronin 1A deficiency by examining the largest possible cohort of affected individuals. In this way, it intends to more precisely define the broad clinical spectrum of this rare immunodeficiency, identifying the full range of symptoms and different degrees of severity observed in patients.
A key focus of the study will be to investigate potential genotype-phenotype correlations, providing clarity on how specific mutations in the CORO1A gene might influence both clinical presentation and disease progression. Furthermore, it will evaluate the efficacy of HSCT, with a focus on treatment indications, survival outcomes, and short- and long-term effects on patient health.
By addressing these critical aspects of Coronin 1A deficiency, it will aim to generate new knowledge that will improve diagnostic accuracy, optimise therapeutic strategies and ultimately improve patient management and prognosis.
