Health Status and QOL in Autosomal Dominant Hyper IgE Syndrome
Research type
Research Study
Full title
Investigating Health Status And Quality Of Life In Patients With Autosomal Dominant Hyper-Immunoglobulin E Syndrome
IRAS ID
289227
Contact name
Aaron Jackson
Contact email
Sponsor organisation
Newcastle upon Tyne Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 5 months, 26 days
Research summary
Autosomal dominant hyper-IgE syndrome (AD HIES) is a genetically inherited disorder of the immune system, leading to susceptibility to skin and chest infections, as well as causing abnormalities with how patients' bones, skeleton and blood vessels develop. The current recommended treatment involves preventative antibiotics and monitoring for lung damage. Another treatment option is bone marrow transplantation, where cells from a healthy donor are given to the patient following chemotherapy in order to replace their faulty immune cells. This can correct the immune system issues, but does not reverse the abnormalities to bones or blood vessels.
Previous studies looking at immune deficiencies has found reduced quality of life and psychological wellbeing associated with frequent hospital admissions and time missed from work and school. This study aims to explore the impact on physical and psychological health of AD HIES, and quantify rates of complications such as chronic lung damage and blood vessel abnormalities. This study also aims to explore how certain populations of immune cells impact on infections and developing complications. This will help us provide meaningful information to patients to help decide whether to undertake bone marrow transplantation or to continue with the current treatment strategies.REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
21/WM/0186
Date of REC Opinion
27 Sep 2021
REC opinion
Further Information Favourable Opinion