Health Status and Quality of Life in Congenital Agammaglob
Research type
Research Study
Full title
Investigating the Health Status and Quality of Life of Patients with Congenital Agammaglobulinemia in the United Kingdom
IRAS ID
212528
Contact name
Andrew R Gennery
Contact email
Sponsor organisation
Newcastle Upon Tyne Hospitals Foundation Trust
Duration of Study in the UK
2 years, 1 months, 3 days
Research summary
Summary of Research
Patients with congenital agammaglobulinaemia are born unable to produce antibodies. Antibodies are a vital part of the immune system and without them, patients are unable to adequately fight infections. Without any treatment, patients would not be expected to live beyond childhood.Wirth modern treatment we can replace most of these antibodies through lifelong injections every 2-4 weeks. This treatment has successfully reduced the number of serious infections and has meant patients can now survive into adulthood. However, we cannot replace the antibodies which protect the sinuses and lungs. We therefore suspect that patients will still get recurrent chest and sinus infections despite our best current treatments. These recurrent infections can ultimately lead to permanent lung damage, a condition known as bronchiectasis. There is no way to reverse this damage. This lung damage will severely shorten patients’ lives and reduce their quality of life (QoL). The exact rates of infections, lung damage and QoL in these patients is currently unknown.
It is possible to cure these patients by correcting the faulty gene which is causing their disease. However, this would require significant justification to invest the clinical and financial requirements in putting this into practice. The major part of this would be a thorough evaluation of the current treatment and outcomes of patients. We aim to study the clinical outcomes of all patients with congenital agammaglobulinaemia in the UK and their subsequent QoL. These data will be used to justify human clinical trials into gene therapy as a lifelong curative treatment for these patients, offering them the prospect of a treatment and complication free life.
Summary of Results
Patients born with antibody deficiencies still experience complications despite current best treatment. Since we currently do aim to cure these diseases, current treatments do not fully compensate for the immune problems in these diseases. In particular, patients still get repeated chest infections leading to long term and irreversible lung damage. Overall, approximately half of all patients in this study have permanent lung damage. Medical care has likely improved over time and it is possible that patients diagnosed in recent years may have better outcomes than the adults in this study. Further follow up of the children in this study will help answer this question. However, this study provides strong evidence that further work and research is needed for patients born with antibody deficiencies, particularly examining therapies that may offer cure such as gene therapy.REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
16/NE/0268
Date of REC Opinion
22 Sep 2016
REC opinion
Further Information Favourable Opinion