Suzanne O’Callaghan is HFA Policy Research and Education Manager
In May-June 2024 HFA conducted a short community survey to ask people affected by haemophilia about what they want from their treatment and their thoughts on gene therapy in particular.
With a range of new and innovative haemophilia treatments becoming available, it is important to understand what people with haemophilia and their parents, partners and family would like to see as outcomes of the treatment. What would result in a better quality of life for them?
Our thanks to all who participated.
WHO COMPLETED THE SURVEY?
45 people (19 female/24 male/2 preferred not to say) completed the survey.
All age groups from 18 years and over were represented. 53% were 31-54 years old.
69% lived in a capital city; 4% in the rural/urban fringe of a capital city; 24% from a regional/rural remote area.
How were they affected by haemophilia?
In many cases both they and their child/family member were affected by haemophilia.
PREFERRED TREATMENT OUTCOMES NOW
When asked what they would like haemophilia treatment to achieve for them NOW, people completing the survey described both impacts on their quality of life and the way this would be achieved – with treatment and how treatment is delivered and supported.
The most common preferred outcomes were preventing bleeds, avoiding injections/infusions and living a normal life. They often had a realistic appreciation of current gene therapies and their limitations – that gene therapy may not work for all or result in normal factor levels or have an effect that is sustained permanently. Some women and parents of children who are both currently ineligible for gene therapy were hoping for access. Some respondents talked generally about ‘better quality of life’.
Treatment outcomes
Reducing symptoms, preventing bleeds, stable normal factor level
Easier and less painful administration; no needles/injections/infusions; oral/tablets
Longer effect in the body
Normal life, participating in activities, travel, sport
Improves impact of complications – arthritis, HIV, work, education, pain
Not so many hospital visits/stays; quicker recovery
Cure
Safety, no inhibitors, no other side effects, eg liver
Better quality of life
Happy with current treatment outcomes.
Treatment delivery
Access to new treatments, including gene therapy
Easy access to medical advice, testing, multidisciplinary care with bleeds.
‘No more needles every two weeks. No more bruising. Less hospital visits’
‘As someone with Moderate that only has factor from trauma, approx 1-2 times a year, the ability to not have to go to the hospital for treatment, allowing me to travel and not feel tied down.’
‘To fix the gene responsible so my son can undertake normal activities like sport.’
PREFERRED TREATMENT OUTCOMES IN THE FUTURE
When asked what they would like their treatment to achieve IN THE FUTURE, people responding to the survey had an opportunity to give their wish list and their hope that future gene therapies would be an effective and safe cure. Some were looking for a germline gene therapy that would mean the gene alteration and haemophilia would not be passed onto future children.
Treatment outcomes
Cure
No bleeds, normal factor levels, prevent joint damage
Easier much less frequent administration; no needles/injections/infusions; oral/pills
Normal healthy longer life, participating in activities, sport
Safe, no side-effects
Long-term effectiveness
Recovery from joint and muscle damage
Having children safely; not passing haemophilia on to children.
Treatment delivery
Better resourcing for HTC multidisciplinary care, support, referral, home testing
Access to gene therapy
Affordable genetics services to support family planning.
‘Longer acting factor replacement. Pill form rather than injection. A gene therapy cure that lasts.’
‘To CRISPR it out of my and my children’s genetic structure.’
‘To be able to play sport like other kids. No more needles. No need to worry about bleeds.’
‘Repairing existing joint damage for patients with a history of bleeds. Research into some truly novel approaches (other than joint replacement/fusion) to heal or regenerate.’
‘Informed treatment options. Holistic support. Continuity of specialist care.’
GENE THERAPY – BENEFITS AND CONCERNS
Participants were asked what they thought the main benefits of current gene therapies would be for them or their child/partner/family member. Their focus was on avoiding the frequency of painful treatments and the better quality of life that could result from no bleeds – perhaps being able to live a ‘normal’ life like people without haemophilia. Some hoped for a cure that would mean permanent normal factor levels and no longer having haemophilia. However, for others this was tempered with the understanding that it may not work for an individual or be a complete cure.
Perceived benefits
No need for prophylaxis, frequent treatment
Living a normal life, better quality of life, easier travel, no bleeds
Cure: no longer having haemophilia
Single long-acting treatment
Potentially normal factor levels
Beneficial if it works
Preventing joint/muscle damage
Less anxiety about periods, childbirth
‘Single injection/infusion. Get rids of the burden on further injection/infusion.’
‘Being “healed” from haemophilia for life.’
‘A life without needles and treatment. A more normal way of living.’ ‘Better outcome for joints and muscles with longer, higher factor level. No more use of medication for a long time hopefully (regeneration for the injection places), no medication on vacations, no problems with these on custom controls and security checks.’
Their most common concerns by far were with safety and efficacy.
Concerns
Safety, side-effects – known and unknown
How long the effect will last
Failure/might not work
Can’t have it again
Eligibility
Waiting for more advanced gene therapy
Cost
Requirements: no alcohol, contraception
Requirements: appointments, travel
Not a complete cure
Not reversible
Effect on future children
Access: regional, rural, remote
‘Triggering other health issues by manipulating genes.’
‘Will it be difficult to qualify, will it last and what are the side effects.’
‘Seems problematic, potential steroid reliance, no alcohol use, may not work.’
‘The first year during treatment with multiple visits to the hospital and potential increased travel costs. Long term data. We are a young couple who would hopefully like to start a family and hence we are navigating when to have children vs when gene therapy becomes available.’
ATTITUDE TO GENE THERAPY
Would they consider having gene therapy now or in the future if they were eligible?
Parents of children were more doubtful than adults with haemophilia, but both assumed that treatment efficacy and safety would have improved in the future.
Adults with haemophilia
Parents of children
GENE THERAPY NOW
‘Having a single treatment is great and Hemlibra does not bring my factor 8 levels to normal.’
‘Needs perfecting.’
‘Even a small improvement is better than none.’
‘Until it’s proven to be safe, would not be comfortable with him receiving this therapy.’
‘Not enough research yet and Hemlibra works fine for us atm.’
‘Need to know that it has been tested long term, and has proof of being safe and beneficial to the patient.’
GENE THERAPY IN THE FUTURE
‘Because it hopefully would increase quality of life as long as the risk to benefit ratio was acceptable.’
‘I’d prefer not to have haemophilia.’
‘Once it’s reliable, I’d jump at it.’
‘To cure him.’
‘Hopefully by then it’s robust and thoroughly tested.’ ‘I think it’s a viable treatment at any age to improve outcomes.’
ACCESS
Final comments from participants underlined their concerns about access and eligibility: making gene therapy available free-of-charge to the patient and enabling access for females and people with lesser severity.
‘Access for mild to moderate patients – often with significant morbidity.’
‘We need gene therapy to be available to females as well. I have a daughter with severe haemophilia B who is a sufferer just like the males. She has intravenous factor 9 injections just like the boys and has done her entire life. She normally doesn’t get offered the same treatment options like gene therapy just because she is female.’
‘I think gene therapy will be a wonderful thing. I really hope we are able to get funding for people with haemophilia to be able to access it.’
