Anxious Patient Group Calls on NICE to Approve Only Drug Treatment for Ultra-Rare Disease

LONDON, December 5, 2013 /PRNewswire/ --

Fight for treatment over three years - NICE Committee in the spotlight as it evaluates first ultra-orphan drug 

On 11th December the National Institute for Health and Care Excellence's (NICE) First Appraisal meeting is taking place to judge whether eculizumab should be recommended in England as a treatment for the ultra-rare disease atypical Haemolytic Uraemic Syndrome (aHUS).  National commissioning of this drug for the treatment of aHUS was recommended in June 2012 by the Advisory Group for National Specialised Services (AGNSS) which stated: "It is clear that eculizumab is an effective treatment for aHUS, and gives a much better quality of life than the alternative treatments."  Patients' elation turned to horror when, following this recommendation, Health Minister Earl Howe unilaterally decided that the drug should not be made available to sufferers, but must undergo a further evaluation by NICE, the first time NICE has ever had to approve an ultra- orphan drug for a rare disease.  Eculizumab has already been approved for treatment of aHUS in forty other countries and is even commissioned nationally for another rare disease in England.

Sufferers of aHUS have been living in a state of limbo.  Some have been able to access the drug through interim funding measures and clinical trials and are waiting anxiously to hear if they will be able to continue to take the drug and lead a normal life or whether they will have to revert to previous treatments such as plasma exchange or much worse, be condemned to renal dialysis for the rest of their much-shortened lives.  The fight to get any access to this life-changing treatment has been hard - in March and May of this year we delivered petitions to Downing Street and the House of Commons calling for everyone to be able to have access to this miracle drug.

"Eculizumab is the only treatment for aHUS.  Everyone, including ministers, NICE, AGNSS, CPAG and clinicians in the field agrees that it is clinically effective. Dialysis and plasma exchange are ways to manage the disease but with this management strategy aHUS sufferers cannot work, cannot travel far from hospital and have to endure horrendous treatment side effects.  Eculizumab allows sufferers to live a normal life, to work and contribute to the economy.  We urge NICE to think differently when it comes to payment for and commissioning of treatments for very rare diseases that have devastating effects on a few sufferers. We trust that  its Evaluation Committee will show it can make well-rounded decisions for rare diseases, like its highly-regarded predecessor, AGNSS, and will not condemn all aHUS patients to horrific and foreshortened lives," says  Ian Mackersie, Secretary of aHUSUK Patient Group.

"Our lack of confidence in the process of approval for this drug, given it has already been approved by two previous evaluations [AGNNS and CPAG], has meant we have had to fight publicly to try to ensure NICE does the right thing.  The treatment is life transforming.  aHUS patients  previously had no light at the end of the tunnel, now they do.  Surely they too deserve the right to get the very best care available today.  NICE can take that bright horizon away from us and we cannot let that happen.  This is a heavy burden for aHUS sufferers and their families to shoulder in addition to coping with living with this terrible disease," says Emma Woodward, Trustee, aHUSUK Patient Group.

The aHUSUK Patient Group has been following children who suffer from aHUS who have been able to access eculizumab:

Patient A, 3 years old, Merseyside

Patient A was diagnosed in October 2011 when she was one year old.  She had been experiencing sickness and diarrhoea for two weeks and then started fitting and convulsing.  She was in intensive care for five months and nearly died three times.  Her local hospital could not diagnose her so she ended up being transferred to Alder Hey Children's Hospital where she was given a blood transfusion and put on dialysis.  She was diagnosed shortly afterwards and now receives eculizumab.

Patient B, 2 years old, Essex

In October 2011, two weeks before her first birthday Patient B was diagnosed with aHUS.  Patient B had been ill for several weeks before diagnosis, suffering with diarrhoea and sickness, and was very dehydrated.  After visits to the G.P. with no improvement she was eventually rushed to hospital twice within twelve hours after suffering seizures.  Patient B spent one night in her local hospital before being transferred to Great Ormond Street hospital the next day.  She suffered kidney failure; she was given a blood transfusion and was placed on kidney dialysis. After many tests were conducted Indie was diagnosed with aHUS. It was at this point Patient B was invited to take part in a clinical research study, trialling eculizumab as an alternative to dialysis.  Patient B remains on the drug until NICE completes its review and there is greater clarity about patient access.

Patient C, 8 years old, London

Patient C developed aHUS in 2008.  She had multiple plasma exchanges but they did not have any impact. In August 2008, due to constant high blood pressure and fluid overload her heart dilated and she ended up with pulmonary oedema.  She almost died.  As a result Patient C received a kidney transplant operation with a kidney donated by her father.  Soon after the operation, she had an aggressive episode of aHUS.  She is now on eculizumab.  She was one of a group of aHUS sufferers and supporters who delivered a petition to Downing Street for access to the drug.

The aHUSUK Patient Group has also been following adult sufferers of aHUS who have been able to access eculizumab:

Patient D, Corsham, Wiltshire

Patient D is 36 and was diagnosed with aHUS in late May 2013. Following the diagnosis, Patient D's kidney function dropped to 6%, forcing him to undergo plasma exchange and haemodialysis at least 5 times a week. He is now on eculizumab and came off dialysis at the beginning of November.

Patient E, Newcastle

Patient E felt sick and tired and had no energy from around 24th February 2012 - no-one knew what was wrong with her except there was a problem with her kidneys.  She underwent a kidney transplant on 29th August 2013.  A week after the transplant she was very sick and lost the use of her limbs and started experiencing limited vision.  A week later, after she experienced a seizure, she was diagnosed with aHUS and was given eculizumab.  As a result of the treatment Patient E is now back at college.

aHUSUK is also in touch with others who are not able to access eculizumab at this time:

Patient F, Newcastle

Patient F is 41 and was diagnosed with aHUS after giving birth to her daughter in 1999.  Patient F had a kidney transplant in 2003. However, the kidney began failing in 2007, and she has been on dialysis ever since. She is now hoping to get on the transplant list.

Patient G, Knutsford, Cheshire

The 38-year-old schoolteacher has been campaigning hard to secure treatment for fellow sufferers of aHUS.  Patient G has been suffering with aHUS for sixteen years.  Recently she received confirmation of funding for eculizumab but only when a suitable kidney becomes available for transplantation.  She joined the national kidney transplant waiting list in July 2013 and now cannot be more than four hours from her hospital in case she gets a donor organ.

Notes to Editors:

>        Atypical haemolytic uraemic syndrome (aHUS) is a rare disease that causes severe inflammation of blood vessels and the formation of blood clots, leading to organ damage in children and adults.

>        The cause of aHUS is not fully understood but in 70% of people it is associated with an underlying genetic or acquired abnormality of proteins in the system called complement.

>        In children, the illness initially causes poor feeding, vomiting and fatigue whilst adults may experience fatigue, anxiety and general distress.  As the illness progresses people may experience anaemia, oedema, hypertension and kidney failure.

>        Most people who develop aHUS for the first time are treated with daily plasma exchange but 50% of people do not respond to treatment and develop permanent kidney failure requiring treatment with long-term dialysis.

>        There are currently around 140 people with a diagnosis of aHUS in England but it is estimated that at least another 140 people may remain undiagnosed.

>        NICE has had to develop a special framework for this assessment as the usual method of using QALYs cannot be applied to orphan drugs that treat relatively small populations.

For Further Information:

For media enquiries or to be put in touch with any of the case studies please contact Emma Woodward at secretary@aHUSUK.org