Batten Disease Family Association

19/02/2026

➡️➡️Please Share!

Thank you to our amazing advocates and supporters, Lord Botham and his family for standing with us and raising awareness of the devastating impact of the NICE decision.

The Batten Community are proud to partner with Beefy's Charity Foundation as we continue to advocate and fight for access to Brineura for every child diagnosed with CLN2.

19/02/2026

Thank you to our amazing advocates and supporters, Lord Botham and his family for standing with us and raising awareness of the devastating impact of the NICE decision. Lord Botham speaks personally about the impact that the NICE process has had on families and the need for systematic change.

The Batten Community are proud to partner with 's Charity Foundation as we continue to advocate and fight for access to Brineura for every child diagnosed with CLN2.

19/02/2026

🔶❗️Help us win £5,000!❗️🔶
You can help the BDFA to be in with a chance of winning three £1,000 awards (March, September & December draws) PLUS a £5,000 Health & Wellbeing Special Draw through the Benefact Movement for Good Awards.
Nominations from previous years do not roll over, so even if you nominated us last year, we kindly need you to do it again for 2026.
It takes just 30 seconds:
👉 Please make sure to nominate Batten Disease Family Association CIO (1205650)
(We’ll pop the charity number in the comments for easy copy & paste!)
Every single nomination increases our chances - your nomination could be the reason we receive crucial funding to continue supporting families affected by Batten disease. 🧡
It’s one nomination per person, and once you’ve nominated us, it will automatically be entered into all applicable 2026 draws.
Please share and help spread the word.
Thank you so much for your support! 🧡🧡🧡

Nominate a charity for a Movement for Good award now.

19/02/2026

❗️Channel 4 News report on the NICE final decision to reject Brineura for newly-diagnosed children ❗️

Last night, Channel 4 News ran an excellent short feature highlighting the devastating impact NICE’s final decision not to fund Brineura for newly-diagnosed children is having on our community.

Thank you to Victoria Macdonald at Channel 4 News for helping to raise awareness of this unacceptable situation on national television.

Please help us by sharing, commenting and liking this post.

We will not stop advocating and fighting until all eligible children can access Brineura!

19/02/2026

❗️Channel 4 News report on the NICE final decision to reject Brineura for newly-diagnosed children ❗️

Last night, Channel 4 News ran an excellent short feature highlighting the devastating impact NICE’s final decision not to fund Brineura for newly-diagnosed children is having on our community.

Thank you to Victoria Macdonald at Channel 4 News for helping to raise awareness of this unacceptable situation on national television.

Please help us by sharing, commenting and liking this post.

We will not stop advocating and fighting until all eligible children can access Brineura!

18/02/2026

BDFA statement on NICE decision to reject Brineura for children with CLN2 Batten disease

Newly diagnosed children in England will now be denied access to the only approved treatment shown to significantly slow the progression of CLN2.

The Batten Disease Family Association CIO (BDFA) is devastated and deeply disappointed by NICE’s final decision not to recommend Brineura® (cerliponase alfa) for the treatment of children with CLN2 Batten disease, a rare, devastating and life-limiting neurodegenerative condition.

Without treatment, children with CLN2 typically experience rapid neurological decline, including seizures, loss of speech and movement, progressive dementia and severe disability, with an average life expectancy of just six to twelve years.

Brineura is not a cure, but it is life-changing. Clinical evidence and real-world experience show that it can delay the onset of symptoms, slow the rate of deterioration and preserve vital skills for longer, giving children more time and a better quality of life. For families facing this diagnosis, Brineura represents hope - and today that hope has been taken away.

This outcome is not due to a lack of clinical benefit. In 2019, NICE itself recognised that Brineura improves quality of life and slows the deterioration of motor and language function in this devastating condition, and the treatment has been available on the NHS through a managed access agreement. Today’s decision means that agreement ends from today, and is the result of NICE and the manufacturer, BioMarin, failing to reach agreement on a price that reflects the clear and meaningful benefits of treatment.
As a result, children and families are being caught in the middle of a pricing dispute, with devastating consequences.

Liz Brownnutt, CEO of the Batten Disease Family Association, said:
“This is a heartbreaking and unacceptable decision. Newly diagnosed children with CLN2 Batten disease are being denied the only treatment that can slow this cruel, life-limiting condition. For families, this feels like hope being taken away at the very moment they need it most. We are calling on NICE and BioMarin to urgently resolve their differences and agree a fair deal that reflects the real value of Brineura for children and families. The BDFA will not stop fighting until every eligible child can access this treatment. These children cannot wait, time lost can never be recovered.”

Throughout the technology appraisal process, the BDFA has continually fought for access to treatment for patients, representing the voices and lived experience of families affected by CLN2 Batten disease. The charity has submitted extensive evidence, attended and provided evidence at every NICE committee meeting, launched an appeal process, and worked closely with clinicians and other stakeholders to ensure that the full impact of this disease - and the real-world benefits of Brineura - were properly understood.
Despite these efforts, today’s decision means families who are already facing one of the most traumatic diagnoses imaginable are now being told that their child will be denied the only treatment that can slow this fatal disease.

Although the NICE appraisal process has now concluded, the BDFA will continue to fight relentlessly for access to Brineura. The charity is urging BioMarin to launch a rapid review and submit a new proposal to NICE and the NHS, which could still lead to Brineura being made available to children within weeks.

If this route is unsuccessful, the BDFA will continue to explore every available option to challenge this decision, including seeking advice on the legality of the NICE decision.

Families affected by CLN2 Batten disease deserve certainty that their children will receive the best possible care. They deserve compassion, urgency and fairness. The BDFA will not cease to advocate for their rights, their wellbeing and their access to the treatment that could make a profound difference to their lives.

The published final guidance and appeal outcome can be accessed via the NICE website https://www.nice.org.uk/guidance/hst34 https://www.nice.org.uk/guidance/hst34/history

For any enquiries or for further information please contact Liz Brownnutt, CEO - lizbrownnutt@bdfa-uk.org.uk.

17/02/2026

Addy’s brother Samuel led our Family Cooking session in half-term this February. He showed us how to make pancakes, which were a great success!
Grannies, parents and carers joined in the fun too.

Thanks Samuel for being a great chef! 🧑‍🍳

13/02/2026

News from THX Pharma (formally Theranexus) announce partnership with Biocodex

Yesterday we received news from THX Pharma (formally Theranexus) who have announced a partnership with Biocodex. They are continuing to lead the clinical development of Batten-1 in CLN3 Batten disease and hope to start a Phase 3 clinical trial later this year.

A copy of the news release (in English) can be found on our website: https://bdfa-uk.org.uk/news/news-thx-pharma-formally-theranexus-announce-partnership-biocodex

We look forward to sharing further news as we receive it.

10/02/2026

BDFA attends reception at House of Commons hosted by the BioIndustry Association (BIA)

Yesterday, Liz Brownnutt CEO and Nigel Nicholls, BDFA Chair were invited to attend an afternoon reception at the House of Commons, hosted by the BioIndustry Association (BIA), bringing together over 80 UK rare disease stakeholders and system partners to discuss the challenges and opportunities in securing UK leadership in rare disease innovation and access to medicines.

Following several inspiring speeches from Liz Twist MP, Kylie Bromley, General Manager at Biogen and Chair of the BIA’s Rare Disease Industry Group (RDIG), Julian Beach, Interim Executive Director, Healthcare Quality and Access at MHRA and Rebecca Torricelli, Stories Officer and Patient Representative at Muscular Dystrophy UK, there was opportunity for valuable networking time with industry partners and patient advocacy groups.

30/01/2026

🔬A timeline of symptom onset and disease progression in CLN3 disease, Whiteman et al 🔬

CLN3 is one of the most prevalent forms of Batten disease. Although the first symptom is usually vision loss even within families, there is heterogeneity. Thus, there has been no clearly defined timeline describing when key symptoms appear and how the disease progresses.

A comprehensive literature review and meta-analysis have been undertaken to better understand the age of core symptom onset and chronological disease progression. Through analysis of data from 9 natural history studies comprised of over 400 patients aged 4-39 years of age, the authors show a clear chronological pattern for 13 core symptoms, beginning with early vision loss and advancing through cognitive, behavioural and motor decline, cardiac manifestations, feeding difficulties and end of life. Their results provide anticipatory guidance for families, clinicians, social services and educators to optimise caring for individuals affected by CLN3 Batten disease and for designing effective clinical trials.

The study is published in the Orphanet Journal of Rare Diseases and can be accessed via the link below:

CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade

29/01/2026

🔸BDFA attended the British Paediatric Neurologists Association (BPNA) Conference in Glasgow this week. 🔸

We are delighted that Sarah Kenrick, our Head of Support & Advocacy and Nigel Nicholls, BDFA Chair of Trustees are representing the BDFA at the British Paediatric Neurologists Association (BPNA) Conference in Glasgow this week.

The British Paediatric Neurology Association is the professional organisation for medical professionals in the UK and internationally who specialise in the care of children with neurological disorders.

The annual conference is a key meeting for connecting with Neurologists, clinical teams, pharmaceutical groups and patient advocacy groups, to raise awareness about Batten disease and the importance of early diagnosis.

Nigel and Sarah were delighted to receive a visit to our stand from Dr Dipak Ram, Consultant Paediatric Neurologist at Manchester Children's Hospital and one of the leading UK specialists for CLN2, with whom we work closely.

29/01/2026

🔸Dr Jo Nightingale, our Head of Scientific Affairs attends the Festival of Genomics & BioData Conference in London 🔸

We are thrilled that Jo Nightingale, our Head of Scientific Affairs is currently attending the Festival of Genomics & BioData Conference in London. This is a key meeting where scientists, clinicians, business leaders, tech companies, investors, patient organisations and policymakers come together to learn, network, collaborate, participate, discover and ultimately translate the latest innovations in science and technology into better patient outcomes.

Jo has had opportunity to present a poster at the conference to educate about the genetics and potential treatments for Batten disease, whilst catching up on the latest information about genetics in the UK and raising awareness with pharmaceutical groups.