Category Archives: Treatment

Ground-breaking severe Haemophilia A gene therapy results offer hope of new future

Today’s report, AAV5–Factor VIII Gene Transfer in Severe Hemophilia A, in the New England Journal of Medicine offers the prospect of people with severe Haemophilia A taking a single injection and achieving clotting factor levels of mild or moderate patients.  This could mean huge reductions in use of clotting factor replacement products.

Dan Farthing-Sykes, CEO of Haemophilia Scotland responded saying,

These results are a huge achievement and offer someone born with Haemo

philia today the prospect of a life without regular infusions.  I am struck by the bravery of all of those who have volunteered to be part of this and similar gene therapy trials.  Without their courage the amazing results achieved in studies like this would not be possible. Our thanks and congratulations go to everyone involved in this important work.

Many Haemophilia Scotland members will be excited by the prospect of a step-change in treatment.  However, as with all new medicines, they will want to see these results repeated in larger studies and be assured that the treatment is as safe as possible, as well as being free from harmful side effects.

This breakthrough will require clinicians, patients, and Governments to work together to make sure patients are able to benefit fully.  We will need to know if the therapy will continue working for the rest of a patient’s life. What levels of standard treatment might still be needed to keep all patients bleed-free or to respond to trauma? Gene therapy might also require new and innovative funding models to make sure that all the patients who might benefit are able to access it.

Read more reactions at,

Read the Scottish Needs Assessment Report

In the run up to our AGM this Saturday we wanted to publish the final report of the Needs Assessment we conducted in partnership with the Scottish Inherited Bleeding Disorders Network.  We are grateful to The Lines Between who independently carried out the assessment. Thank you to everyone who took part by completing the survey to have their say.

There report highlighted that there is unmet demand for physiotherapy and psychosocial services.  The services already offered in these fields are greatly appreciated but more provision is need. Some of the other key findings from the report were,

  • Some people with less severe bleeding disorders suffer anxiety about how to manage their condition.
  • Over half of people have additional social, emotional, or practical support needs.
  • People are experiencing stigma and discrimination at work.
  • While it is understood that activity is important, activity levels are low.
  • People wanted more local and specific support services.

The top three priorities for the future were,

  1. Reducing the number of bleeds
  2. Finding a cure
  3. Reducing the frequency of infusions

Read the Report

You can download a copy here or by signing up for a free account on Issuu.

We formally launched the report on the 15th of March and then presented it to MSPs, patients, and healthcare professionals at a reception at the Scottish Parliament.

Photos from the Scottish Parliament Reception

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Photos courtesy of Elspeth Parsons of The Lines Between.

We are grateful to Baxalta (a Shire company) for the unrestricted grant which made the Scottish Needs Assessment possible.

New advice on the use of Direct Acting Antivials in the treatment of Hep C for those with prior exposure to Hep B

mhra-logoThe Medicines and Healthcare products Regulatory Agency (MHRA) is an executive agency of the Department of Health (England) and regulates medicines, medical devices and blood components for transfusion in the UK. In the January addition of their Drug Safety Update the agency changed their advice on the use of Direct Acting Antiviral therapies for the treatment of Hepatitis C.

All patients should be screened for hepatitis B before starting treatment for chronic hepatitis C with direct-acting antiviral interferon-free regimens. Patients who are co-infected with hepatitis B and C viruses are at risk of hepatitis B reactivation, and should be monitored and managed according to current clinical guidelines.

This changed advice reflects a concern that the successful treatment of hepatitis C with the new direct acting antiviral products could allow a previously supressed hepatitis B infection to reactivate.

Both hepatitis C and hepatitis B are blood borne viruses and can be transmitted in very similar ways. As a result we are concerned that people with bleeding disorders who were infected with hepatitis C might also have been infected with Hepatitis B at the same time. As with hepatitis C, hepatitis B can also be transmitted sexually so we are conscious this change in advice could be relevant to some partners too. With so many people recently completing the treatment using direct acting antivirals we are taking the new advice from the MHRA very seriously.

We raised these concerns at the recent meeting of the Steering Group of the Scottish Inherited Bleeding Disorders Network. We were assured that Scottish Haemophilia Centres have not seen an increase in hepatitis B cases or in unusual liver function test results.

However, in response to our concerns, all Scottish Haemophilia Centres have been asked to contact their local hepatology teams and discuss this issue.  They will ascertain that appropriate hepatitis B reactivation screening in patients receiving these antiviral regimens is being undertaken.  Anyone who is anxious about potential hepatitis B reactivation, and has recently completed treatment with direct acting antivirals, can also request a test from their Haemophilia Centre.  The Network has asked to receive reports of any cases of Hepatitis B reactivation which are discovered so that the situation can be monitored.

Further information about hepatitis B can be found on the NHS Choices website.

Last chance to have your say in our #NeedsAssessment


We are closing the needs assessment survey on Thursday morning (1st December).  We’ve had a really good response so far but the more people who take part the more useful our results will be.  We are running the needs assessment in partnership with the Scottish Inherited Bleeding Disorders Network so the results will influence the services we offer but also the services of the Scottish Haemophilia Centres.

There are some parts of Scotland that are a little under-represented at the moment.  We are keen that the results reflect everyone in Scotland.  So if you are reading this in Argyll & Bute, Dumfries & Galloway, East Renfrewshire, Orkney, Stirling, or The Western Isles please make a particular effort to take part.

If you do take part then you might also win one of three FitBits that we are giving away.  They would make a great early Christmas present for yourself or could let you cross at least one name of that Christmas shopping list!

Click here to take the survey

European Medicines Agency investigation of Direct Acting Antivirals

European Medicines Agency - EMA

Whenever a new product is adopted there is a possibility that a the larger numbers patients with different histories and settings will reveal effects that weren’t apparent during the clinical trials.  That is why post marketing monitoring and initiatives such as the Yellow Card scheme are so important.

The new Direct Acting Antiviral treatments for hepatitis C have been very successful in helping many Haemophilia Scotland members achieve Sustained Virological Responses (SVR).  Many of our members had a history of unsuccessful and grueling treatment involving interferon. So far, members have reported some, comparatively mild, side-effects but overall have responded well to the new treatments.  Nevertheless, it is important to remain vigilant.

Globally, there have been some anecdotal reports of hepatitis B re-activation in some patients who have been infected with both hepatitis B and C viruses and who were treated with direct-acting antivirals for hepatitis C. Hepatitis B re-activation is the return of active infection in a patient whose hepatitis B infection had been chronic.

In April 2016, a study was published regarding the risk of liver cancer (hepatocellular carcinoma) returning in patients who were treated with these direct-acting antivirals for hepatitis C. The study suggests that some patients were at risk of their cancer coming back earlier than in those patients with hepatitis C who were not treated with direct-acting antivirals.

To investigate these reports the European Medicines Agency (EMA) began a review in March 2016.  The current status of their review is “Under Evaluation”.  However, their website does provide a summary, key facts, and all documents for those who would like to know more. The scope of the EMA review extends to assessing the risk of liver cancer with these medicines.

Commenting on their review the EMA states that, “While the review is ongoing, patients should speak to their doctor or pharmacist if they have any questions or concerns.”

Sources include Haemophilia World.

Dr Dan Hart has high hopes for new haemophilia treatments


Regular readers will remember that Dr Dan Hart kindly came to our Gathering Conference this year in Dunblane to speak about inhibitor risks.

Part of the feedback from the event was that you’d like to hear more about upcoming developments in haemophilia treatment.

Media Planet have just posted an article by Dan on their Health Awareness site in which he talks about his hope for the new haemophilia treatments, including Extended Half-Life (EHL) products.

New study on inhibitor risks expected soon

EHC - RT - Inhibitors - Feb 2016 001

Yesterday, the European Haemophilia Consortium (EHC) held its best attended Round Table meeting yet.  Almost 80 people came from all over Europe to discuss an important study into inhibitors which is expected to be published very soon.  The SIPPET Study is the largest randomized controlled trial every conducted in haemophilia.  216 people with haemophilia have been helping the researchers investigate whether there is a difference in the chances of developing an inhibitor depending on whether someone is being treated with a plasma derived or recombinant clotting factor product.

This issue is so important because inhibitors are the most significant problem with current treatments for haemophilia.  They develop when the someones immune system reacts against the clotting factor product they have been treated with.  Having an inhibitor means more bleeds, more joint damage, and even a increased risk of death while it persists.

Approximately 30% of people who receive regular treatment for haemophilia will develop an inhibitor.  Of these roughly one third will clear it without treatment and two thirds will require treatment.  Haemophilia Centres use Immune Tolerance Induction (ITI) to try to tackle inhibitors. This involves giving relatively large amounts of treatment to train the immune system to recognize the product without reacting against it.  Even in Europe there are many countries where not everyone who needs ITI can get it.  We are fortunate that Scotland is one of the countries with unrestricted access to ITI for those who need it. ITI is successful in 60%-80% of people.  That leaves 20%-40% of people who get an inhibitor which can cause long term problems for them.

Although the SIPPET Study data has not been published the initial indications (based on the abstract which has been published) are that it will conclude that there is a higher risk of developing an inhibitor when using a recombinant product when compared with a plasma-derived product, although there is a risk with both classes of treatment. Without the relevant data, clinical organisations and patient groups haven’t yet been able to develop recommendations about how best to respond.  However, there was some speculation at the meeting that any advice that was developed might look at using plasma-derived products for people at a higher risk of developing an inhibitor for other reasons (such as genotype, ethnicity, or family history).  Most inhibitors develop between the 20th and 30th day that someone takes treatment.  Any new approach might be expected to concentrate on that higher risk period.  That means that these decisions could have the biggest impact for previously untreated people, like children or babies, and minimally treated people, such a adults with mild haemophilia.  However, until the data is available these are just educated guesses.

There are several reasons that it might be unlikely that there will be recommendations to switch, wholesale, from recombinant to plasma-derived products.  Not least of there is the concern that plasma-derived products are inherently more vulnerable to new blood borne pathogens such as viruses or prions.  This consideration is particularly acute in Scotland, and the rest of the UK, because of concerns about vCJD.  Although there are no cases of infections with a blood borne virus or vCJD from the products currently available in Scotland, nobody wants to be complacent.  It is also worth remembering that the volumes involved in recombinant treatment are lower which has advantages when treating children.

What was very encouraging was that clinician after clinician at the meeting stressed the importance of giving patients and parents the information they need to understand their choices.  There was also a strong commitment to developing any guidance or recommendations in partnership between clinicians and patients.   In the UK, the United Kingdom Haemophilia Centre Doctors’ Organisation (UKHCDO) Inhibitors Working Party will play a leading role. Here in Scotland, we will work through the new Scottish Inherited Bleeding Disorders Network to respond to changing knowledge about inhibitors and adapt any recommendations from UKHCDO, the EHC, or the World Federation of Hemophilia (WFH) for use in Scotland.  There is currently no date for the publication of the SIPPET study but we will keep you informed as soon we know more.

Find out more about the treatment of inhibitors by reading this paper.

EHC - RT - Inhibitors - Feb 2016 002




Dan Farthing-Sykes
CEO, Haemophilia Scotland

European Hepatitis C Conference provides the latest information

The Irish Haemophilia Society found a very good venue.

The Irish Haemophilia Society found a very good venue.

We are very grateful to the Irish Haemophilia Society for organising a weekend conference in Malahide, near Dublin, to look at Hepatitis and Bleeding Disorders in Europe. There are almost 11,000 people in Europe with a bleeding disorder and Hepatitis C so this is one of the major issue facing the Bleeding Disorders community across the continent.

Read more