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While the burden of standard treatment may be reduced through the use of gene therapy, converting those with severe haemophilia to a mild or moderate phenotype, the long-term sequelae of previous joint bleeds and associated limitations imposed on those with severe haemophilia may not translate to lessen the biomedical burden of living with a history of severe haemophilia.
We wish to explore these issues further in the Learning to Live study. The study will also seek to identify the ongoing support needs of those who transition to a milder bleeding phenotype.
Full description
Haemophilia is a rare congenital disorder caused by an inherited genetic defect which affects approximately one in every 5,000 males. Haemophilia A (factor VIII [FVIII] deficiency) occurs in 85% of cases with haemophilia B (factor IX [FIX] deficiency) making up the remainder of affected people. Three severities are reported: "severe" (factor activity is less than 1%), "moderate" (factor activity is 1-5% and "mild" (factor activity is 6-25%).
The aim of haemophilia treatment is to reduce the frequency of bleeds, and consequently morbidity and joint damage, in order to prevent future disability. Historically treatment has been replacement of the missing clotting factor when a bleed occurs (on-demand treatment) or regularly and intermittently (prophylactic treatment). With this in developed countries, life expectancy of persons with haemophilia, is expected to be close to normal. Treatment is burdensome for affected individuals and caregivers with treatment complications, (presence of inhibitors, pain, and arthropathy), psychological (stress and coping, anxiety and depression, stigmatisation and discrimination) and economic aspects.
Whilst those with mild haemophilia usually only experience bleeding with trauma or surgery and are less engaged with haemophilia care, the impact of living with mild haemophilia on quality of life is becoming more recognised and further research within this cohort of people is required.
The present day focus of treatment is on normalising individual's lives and reducing treatment burden by using innovative therapies to limit and/or eliminate bleeding episodes. This results in a cohort of individuals who are now living with a less severe phenotype of haemophilia, who may be less able to recognise and treat bleeds and for whom clinical follow up and outcomes will be considerably different to that of their predecessors.
A holistic approach to follow up is required, and should include patient relevant outcome. Living with mild haemophilia is still limiting and when bleeds occur the impact is not mild; many cannot self-infuse, do not recognise when to attend hospital and suffer pain and mobility issues.
This study, which has been co-created with a person with haemophilia, aims to explore the impact of these new treatments using mixed methods study. This includes quantitative data from patient reported outcome assessment (the PROBE validated haemophilia questionnaire) and through in depth qualitative interviews.
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Inclusion criteria
Confirmed diagnosis of haemophilia A or B of any severity
Exclusion criteria
Diagnosis of any other bleeding disorder
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Central trial contact
Mike Holland; Simon Fletcher, MA
Data sourced from clinicaltrials.gov
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