The 3rd European ATTR Amyloidosis meeting for Patients and Doctors was hosted virtually September 6-8 – see https://www.attr-congress.eu/
A phase 1 clinical trial of a single dose, potentially curative therapy for ATTR amyloidosis has started at the National Amyloidosis Centre. The therapy uses CRISPR gene editing therapy.
“Only a few short years ago, there were no treatments available for this devastating disease,” said Carlos Heras-Palou, M.D., founder and president of the United Kingdom ATTR Amyloidosis Patients Association (UKATPA), who also has hATTR. “Now, a cure for ATTR utilizing the groundbreaking CRISPR/Cas9 gene editing technology may be within reach.”
See here for more information.
Rare Artist Contest now open!
The 2020 Rare Artist contest is now open for submissions! Our goal with the Rare Artist Contest is to celebrate the talents of the rare disease community and spread awareness with each piece and the artists behind them. Anyone who is connected to rare is encouraged to enter, we accept entries from ages 4+.
If you are interested in participating in the Public Vote, please submit via Facebook or just click on the submission button below. For more details on contest information or guidelines please visit RareArtist.org. If you do not have a Facebook page, or are not interested in the Public Vote, please send your submissions directly to firstname.lastname@example.org
2.6 CHALLENGE; 26 DANCES!
Jessica Nineham and Sheena Thomas-Nineham have several family members affected by ATTR amyloidosis. As part of the 2.6 challenge to save the UK’s charities they have put together a VERY varied mash-up of 26 dances to fundraise for the National Amyloidosis Centre Amyloidosis Research Fund.
Watch them here – they’re very talented dancers!
JustGiving page here
UKATPA had planned a patient information day for ATTR Amyloidosis patients, relatives, carers and professionals on Wednesday the 13th of May. Due to the coronavirus crisis it could not take place then and has been postponed to Monday 7th of September 2020.
However, we organised an online information session on Wednesday 13th of May, with talks by Prof M. Reilly on neuropathy and Prof J. Gillmore on cardiopathy, and an opportunity to catch up and ask questions.
The talks are available here:
Neuropathy in TTR Amyloidosis by Prof Mary Reilly: https://www.youtube.com/watch?v=Qjt_6xxJQzc
Cardiomyopathy in TTR Amyloidosis by Prof Julian Gillmore: https://www.youtube.com/watch?v=PuGN4vVg2-U
Mr Carlos Heras-Palou
UK ATTR Amyloidosis Patients Association
Information about COVID-9 (corona) for patients with ATTR amyloidosis is available on the National Amyloidosis Centre website – see here.
Lucy Nicholas is planning a walk across the Pyrenees from France to Spain from 28 September to raise funds for UKATPA. Lucy’s husband, Vince, has hereditary ATTR amyloidosis and is one of the patient panel members and founders of UKATPA.
For more information on Lucy’s plans see here.
2nd European ATTR Amyloidosis Meeting
The 2nd European ATTR Amyloidosis Meeting for Patients and Doctors was held in Berlin from 1-3 September 2019. More than 500 participants attended the 1st European Meeting for ATTR Amyloidosis in 2017 in Paris, demonstrating the importance of bringing patients and doctors together.
On 14 August NICE published guidance recommending patisiran for treating for treating hereditary transthyretin amyloidosis in adults with stage 1 and stage 2 polyneuropathy.
May -July 2019
On 22 May NICE published guidance recommending inotersen for treating stage 1 and stage 2 polyneuropathy in adults with hereditary transthyretin amyloidosis.
On 8 July a NICE appraisal committee released a final evaluation determination recommending patisiran for treating hereditary ATTR amyloidosis in adults with stage 1 and stage 2 polyneuropathy. The final NICE guidance document is expected to be published in August 2019.
While these developments are extremely encouraging, NHS England will need to give final approval to both of these drugs before patients can access the treatment. This is anticipated sometime around August 2019.
Press coverage of the NICE recommendations, including interviews with UKATPA patient panel members and with the National Amyloidosis Centre consultants:
Broadcast media coverage:
Further coverage of inotersen approval:
Further coverage of patisiran approval:
On May 3 the US Food and Drug Administration (FDA) approved tafamidis (Vyndaqel and Vyndamax) for cardiomyopathy (heart disease) caused by ATTR amyloidosis. This is the first FDA approved treatment for ATTR cardiomyopathy.
Tafamidis (Vyndaqel) is approved in Europe for polyneuropathy caused by ATTR amyloidosis, but it is not funded in the UK. It is not approved for polyneuropathy in the US. Regulatory submissions for the use of tafamidis in patients with ATTR cardiomyopathy have been submitted to the European Medicines Agency (EMA) and to NICE and are under review.
On 25 January 2019, the inaugural ATTR Patient and Family Info Day was held at the Royal Free Hospital. The day was well attended: The Atrium conference venue at the Royal Free was filled to capacity by 130 attendees – patients and their relatives and friends. The day was organised by the UK ATTR Amyloidosis Patients’ Association (UKATPA). The morning involved some formal talks – speakers included Profs Hawkins and Gillmore from the NAC and Prof Reilly from the National Hospital for Neurology and Neurosurgery in London. Break-out sessions in the afternoon focussed on particular relevant topics and enabled discussion and sharing of information in smaller groups. The day was managed by NAC staff volunteers. Here are some videos from the day:
The NICE assessments of Patisiran and Inotersen have been made public on their website. These recommendations are not final guidance and may change after consultation. The UK ATTR Amyloidosis Patients Association is involved in the NICE process. Our summary of the significance of these assessments is as follows:
NICE assessment of Patisiran.
The National Institute for Health and Care Excellence (NICE) has published an Evaluation Consultation Document (ECD) on its assessment of patisiran. It states that “Patisiran reduces disability, increases quality of life and is innovative”. However, there remain some questions about its cost-effectiveness, therefore NICE state that “Patisiran is not recommended, within its marketing authorisation, for treating hereditary transthyretin-related amyloidosis in adults”.
It is important to keep in mind that this is an initial draft guidance and further discussions regarding the cost effectiveness of the drug will be held. UK ATTR Patient Association expects that NICE, Alnylam and NHS England will continue to work towards making patisiran available to patients in England and Wales. A final decision is anticipated in the new year.
Patisiran (Onpattro®) is a ribonucleic acid interference agent that suppresses transthyretin (TTR) production by the liver (including abnormal TTR). It is administered once every 3 weeks by intravenous infusion at a dose of 0.3 mg/kg. It has a marketing authorisation in the UK for treating ‘hereditary transthyretin-mediated amyloidosis in adult patients with stage 1 or stage 2 polyneuropathy’.
NICE assessment of Inotersen.
The National Institute for Health and Care Excellence (NICE) has published an Evaluation Consultation Document (ECD) on its assessment of Inotersen. It states that “Inotersen slows progression of the disease considerably and is innovative”. However, there remain some questions about its cost-effectiveness, therefore NICE state that “Inotersen is not recommended, within its marketing authorisation, for treating polyneuropathy in adults with hereditary transthyretin-related amyloidosis”.
It is important to keep in mind that this is an initial draft guidance and further discussions regarding the cost effectiveness of the drug will be held. UK ATTR Patient Association expects that NICE, Akcea and NHS England will continue to work towards making Inotersen available to patients in England and Wales. A final decision is anticipated in the new year.
Inotersen (Tegsedi, Akcea Therapeutics) is a novel, first-in-class 2’-O-2- methoxyethyl phosphorothioate antisense oligonucleotide that inhibits production of transthyretin (TTR) in adults with hereditary transthyretinrelated (hATTR) amyloidosis. Inotersen has a marketing authorisation for the treatment of stage 1 or stage 2 polyneuropathy in adults with hATTR amyloidosis
Recent press coverage of ATTR amyloidosis and treatment advances:
The National Amyloidosis Centre is holding an ATTR Amyloidosis Patient and Family Infoday at the Royal Free Hospital on Friday 25 January 2019. The Infoday will be held in the Royal Free Atrium 10am-3pm. See flyer below for more details: