Exigency
Research type
Research Study
Full title
An Exploration of the Impact of Gene Therapy on the Lives of People with Haemophilia and their Families
IRAS ID
271911
Contact name
Simon Fletcher
Contact email
Duration of Study in the UK
1 years, 11 months, 31 days
Research summary
Summary of Research
Haemophilia A and B are rare genetic disorders that results in a deficiency in factor VIII or IX production in haemophilia A and B respectively. Factor VIII and IX play a pivotal roles in the formation of a blood clot to help stop bleeding. Haemophilia results in impaired clot formation and can lead to uncontrolled and often spontaneous bleeding. It affects approximately one in every 5,000 males. Different types of severity are recognised:In its severe form, haemophilia results in recurrent joint and muscle bleeds that lead to joint destruction, muscle damage and disability. Treatment of affected individuals in the UK involves the replacement of the missing factor prophylactically, which decreases spontaneous bleeding events and resultant joint damage. Although replacement therapy has improved both life expectancy and quality, limitations include high costs and the frequency of infusions. Prophylaxis requires frequent intravenous infusions, which can be as often as daily but are usually 2-3 times per week. Recent years have witnessed the development and introduction of non-factor based therapies, including gene therapy, for the treatment of haemophilia.
Gene Therapy represents a substantial shift in the entire life experience of living with haemophilia for the person with haemophilia and his family. As such, there is a need to assess the impact of therapy on the everyday lives of patients and their families beyond the generic quality of life assessment tools that are being used in the ongoing phase II and III clinical trails. In order to do this this study will use quallitative semi structured interviews to gather this information.Summary of Results
59 people were recruited into the study (46 people with haemophilia and 13 family members). Each participant took part in a single interview online.
Nine major themes emerged: Identity, outcomes, treatment burden, expectation, loss, control, gatekeeping, education and side effects The study has shown that while there is a lot of positive expectation for gene therapy in the haemophilia community (both patient and family), there remain a number of concerns about the outcomes (safety, efficacy, factor expression and how long it might last) and what it might mean for those who are able to have it and those who are not.
All stakeholders involved in gene therapy but especially those people with haemophilia who wish to have gene therapy, their families and the doctors who treat them, need to be certain that it is the right course of treatment so a clear educational strategy needs to be devised so that people with haemophilia can come to a decision about whether gene therapy is the right treatment option for them and access it in an equitable way.REC name
South East Scotland REC 02
REC reference
20/SS/0061
Date of REC Opinion
29 May 2020
REC opinion
Favourable Opinion