Derry woman highlights geographical disparity in accessing lifesaving Amyloidosis drug

The retired barrister was diagnosed last year with the hereditary hATTR Ala 60 strain of the condition, which claimed the life of her father, who was from Burt, as well as other family members.

Thanks to the research and dedication of staff at London’s Royal Free Hospital, within which the National Amyloidosis Centre is based, a new gene-silencing drug called Patisiran has been made available.

Rosaline is the first of her family and also the first in Northern Ireland who will benefit from the drug. She was recently told that treatment needs to begin immediately. However, as she lives in Northern Ireland, a funding application must first be submitted to her local health board. She is currently awaiting a response.

If Rosaline lived in England, treatment would begin straight away. However, if she lived in the Republic of Ireland, the treatment would not be available to her at all.

Patisiran stops the progression of hATTR Amyloidosis, in which abnormal protein deposits, called amyloid, form in the body’s tissues, most often in the heart, kidneys and nervous system. The deposits damage the tissues and interfere with how the organs work. There are different types of Amyloidosis but familial amyloidosis is most often fatal. Patisiran works by ‘silencing’ the gene and lowering the level of the toxic protein. It has been found to not only stop the progression of the condition, but also reverse it in some cases.

The Department of Health in the South confirmed to the Journal that a report submitted to them by the National Centre for Pharmacoeconomics recommended ‘that patisiran (Onpattro®) is not considered for reimbursement unless cost-effectiveness can be improved relative to existing treatments.’

They added: “The HTA report will be an important input into the decision making processes of the HSE. The HSE will now assess this application for reimbursement in line with the 2013 Health Act.”

Rosaline told the Journal how such variations in treatment are ‘heartbreaking’ for the estimated 30 plus families in the south and up to 15 families in the north who are living with this strain of Amyloidosis.

She said while she is ‘extremely grateful’ that the treatment is available in the north, the delay in receiving it due to the submission of the funding application does cause anxiety. “My understanding is that it’s highly likely the funding will be granted, but when you’re unwell, the smallest thing adds to the stress.’

Rosaline also outlined how there is significant paperwork involved in the application, which has to be undertaken by her consultants in the Royal Free Hospital and Altnagelvin Hospital, ‘adding to their workload and taking valuable time.’ “This is a progressive illness. You’re aware you’re deteriorating and that you need this treatment straight away, but have to wait for funding. You ask yourself why we have to apply for funding here at all?’

There is also numerous amount of literature and research involved in Amyloidosis, which often isn’t diagnosed until three or four years after a person first presents at the doctor, meaning time is of the essence. This all adds to the stress for those newly diagnosed and their families.

Rosaline was diagnosed two years earlier than most, as she was aware of her family history and symptoms. She - as well as many others living with Amyloidosis - are trying to raise awareness of symptoms and the disease, as well as support others who have been diagnosed. They recently set up a facebook support group https://www.facebook.com/groups/AmyloidosisIrelandSupportGroup/

Rosaline urged the Irish government to ‘show mercy’ on those diagnosed with Amyloidosis. “What is the cost of human life? What is the cost of suffering? It’s heartbreaking to see anyone losing their life when there is no treatment. But now there is, and the Irish government must show mercy.’

The response from the Department of Health in the south states: ‘The HSE has statutory responsibility for medicine pricing and reimbursement decisions, in accordance with the Health (Pricing and Supply of Medical Goods) Act 2013.

“In December 2018, the HSE received an application for pricing and reimbursement of Patisiran (Onpattro®) for the treatment of hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) in adult patients with stage 1 or stage 2 polyneuropathy. In January 2019, in line with national processes a full health technology assessment (HTA) was commissioned by the HSE.

“In June 2019, the applicant submitted a HTA dossier to the NCPE. The NCPE HTA report was received by the HSE on 24th February 2020 . The NCPE recommends that patisiran (Onpattro®) is not considered for reimbursement unless cost-effectiveness can be improved relative to existing treatments.

“The HTA report will be an important input into the decision making processes of the HSE. The HSE will now assess this application for reimbursement in line with the 2013 Health Act.”

The response from the NI Health and Social Care Board on funding states: “The Health and Social Care Board commissions new medicines where there is substantive evidence of the clinical and cost effectiveness as determined by National Institute for Health and Care Excellence (NICE) or other relevant UK bodies such as the Scottish Medicines Consortium (SMC). In this regard NICE has issued guidance for the use of Patisiran as an option for treating hereditary transthyretin amyloidosis in adults with stage 1 and stage 2 polyneuropathy.

“The HSCB has formal commissioning arrangements for the funding of Patisiran for patients who meet the criteria for treatment under this guidance. Northern Ireland has long standing links with specialist centres in England, for patients with Hereditary ATTR Amyloidosis, and patients have and continue to be sent to specialist centres for assessment and appropriate ongoing treatment.

“The patients remain under the joint care of the specialist centre and a local consultant. Where a local consultant responsible for a patient’s care considers and can demonstrate that a patient fulfils the criteria outlined within the NICE guidance, a funding application can be submitted to the HSCB for consideration and funding approval.

“Applications are reviewed at a weekly meeting and a response issued to the requesting Trust, often within two working days of the meeting.”