Update 2020

CEO Update | May 22, 2020

Gene Therapy

As Gene Therapy clinical trials in haemophilia continue, there is every possibility that we will see the first licenced Gene Therapy for Haemophilia A this year and for Haemophilia B in 2021. There has been ongoing discussion in the community internationally about which centres should be delivering Gene Therapy. EHC and EAHAD have just issued a joint statement stating their view that Gene Therapy should be delivered by expert haemophilia comprehensive care centres delivering Gene Therapy as National hubs with additional support and monitoring by other haemophilia treatment centres. (The main part of their statement is reproduced below).

This strategy makes perfect sense. Licenced Gene Therapy will be an irreversible therapy which will require full informed consent and a lot of detailed engagement between the person with haemophilia getting the therapy and the team delivering the therapy. The centre will require specific facilities to deliver the therapy and there will be an agreed and detailed follow up process between the patient and the centre. If the chosen centres have experience with Gene Therapy clinical trials, that should be a distinct advantage. In addition, this will be an expensive therapy and I foresee health authorities wanting to ensure that this is delivered by expert centres. In Ireland, we now have experience with Gene Therapy clinical trials, with three people with Haemophilia B already having undergone Gene Therapy at the Clinical Trial Facility (CRF) in St. James hospital, working with the team at the National Coagulation Centre (NCC).

Additional Gene Therapy trials for haemophilia will take place in the future and the CRF are also delivering Gene Therapy in clinical trials for other conditions such as spinal muscular atrophy. Clearly, for a geographically small country such as Ireland, it makes sense to have all the haemophilia Gene Therapy (and perhaps all Gene Therapy) delivered by 1 expert facility such as the CRF. It is not difficult to envision Gene Therapy being delivered at the CRF with major visits taking place there and supporting visits (including regular blood tests required in the first month’s post vector infusion) taking place either at the CRF or at other haemophilia comprehensive care or treatment centres.

The national collaborative model for delivery of care in Ireland, where the 3 comprehensive care centres in Dublin and Cork and the 1 treatment centre in Galway work closely together should make this easy to agree and implement. This may prove more difficult in many larger countries where rivalry and perceived prestige linked to Gene Therapy programmes together with different payment models may make agreement harder to reach. The ultimate objective in each country must be to deliver Gene Therapy in the safest possible manner to the person with haemophilia, to monitor optimally and to achieve the best possible outcomes. This must be the guiding principle going forward.

EAHAD-EHC Joint Statement on: Promoting hub-and-spoke model for the treatment of haemophilia and rare bleeding disorders using gene therapies

To ensure the safe introduction, use, monitoring and optimal learning regarding the delivery of gene therapies over time, EAHAD and EHC jointly call for all first-generation gene therapies to be managed using a hub-and-spoke model, as follows:

Prescribed and managed exclusively by expert haemophilia comprehensive care centres (as the national hubs), and

Monitored, by haemophilia treatment centres in close communication with the primary expert hub (as spokes linking into that hub).

These expert hubs should have previous experience with gene therapy trials and/or specialists who can ensure expertise in a timely manner in gene therapy research, education and monitoring, including laboratory monitoring. This will also maximise long-term benefits for gene therapy patients.

EAHAD and the EHC have previously recommended patients being treated with any novel therapies carry an identity card indicating information about their condition, treatment regimen, the haemophilia comprehensive care centre where their treatment is being overseen, and the name and telephone number of the contact person there, who can be reached 24 hours a day, 7 days a week. This should continue with gene therapies.

Any adverse events should be managed by both the expert ‘hubs’ as well as the treatment centre ‘spokes’ to provide the timeliest state-of-the-art treatment options to patients and maximise long-term benefits. All adverse events should be reported to a centralised reporting scheme and should include bleeding episodes.

It is the responsibility of all healthcare stakeholders to ensure the prescription, management and monitoring of gene therapies by expert hubs, at least initially, to ensure the optimal introduction, use and monitoring of these very different and complex new treatments.


Telemedicine is defined as the remote diagnosis and treatment of patients by means of telecommunications technology. Telemedicine as a concept is not new but the Covid- 19 pandemic has greatly accelerated and enhanced the practice of telemedicine. Haemophilia care in Ireland has been ahead of the curve for a long time in use of technology. We have had a haemophilia electronic patient record system since 2006 and a specific app for recording home use of coagulation factor concentrates since 2011. More recently, we have been implementing the Lighthouse project which aims to give the person with haemophilia control over their condition enabling them to make or change appointments electronically, interact with the comprehensive care team and receive or request specific information. Through a planned patient portal, each person will be able to access their medical records on their smartphone, tablet or computer. Haemophilia is one of 3 pilot projects funded by the HSE which aimed to optimise the use of technology in different conditions. We were fortunate to have this project underway as the wider use of technology such as this will become more mainstream in healthcare in the future.

Prior to the Covid-19 pandemic, the NCC had initiated some clinic “visits” for people with mild haemophilia by telephone. This has now been widened to include all severities of bleeding disorders. People with severe haemophilia are typically asked to attend their centre twice per year for out- patient clinics. At present, these visits are being conducted by telephone or by video consultation from the NCC. Each person with a bleeding disorder who is being contacted have the choice of a telephone or video consultation with the consultant. We will also see more consultations with an advanced nurse practitioner. Telephone consultations are also taking place with the teams from the other comprehensive care centres at Crumlin and Cork and with the treatment centre in Galway.

Early indications are that people with bleeding disorders are quite satisfied with the options of a telephone or video consultation. The clinical issues can be discussed fully. It does not require the person to travel, find parking or wait to be seen. Of course, it cannot fully take the place of an actual visit to the centre. Blood tests can not be done remotely. For a first visit where a diagnosis of a bleeding disorder is required, this would have to be in person. When the first wave of the pandemic is abated, it would be sensible to survey the outcomes of and attitude to telephone or video consultations as a way forward. I can foresee a situation where, for a person with severe Haemophilia, von Willebrand’s or other severe bleeding disorder, an in- person clinic visit could be scheduled annually where blood tests could be performed as required. A second visit could be virtual using telemedicine. Information flow could be both ways and also include the GP using the information from the patient portal. Innovation has also extended to other areas of comprehensive care.

The physiotherapy team at the NCC have been carrying out reviews and appointments by video. The dental team has consulted a significant number of people in emergency situations. It is not possible to do most dental work over a video consultation, but they have been able to see photos sent of the problem area in the mouth and talk people through inserting temporary fillings. Psychological and social work interventions should also be possible by phone or video consultation. We may come to see the accelerated expansion of telemedicine in haemophilia care as a silver lining of this pandemic.

Quality of Life Updates

Over the past 2 years, we have been periodically and anonymously the monitoring the quality of life of adults with severe haemophilia using a specific quality of life tool developed by patient experts – the Patient Reported Outcome Burden and Experience (PROBE) tool. We will be sending this out electronically to all members with haemophilia in the next week and we ask you to please fill in the survey and return to us.