Oxford-based SynaptixBio – a company focused on treating the genetic central nervous system disease TUBB4A-related leukodystrophy – has gained £11.05m in its latest financing project. It adds to the £2.125m of seed funding during the last two years. Each of the pivotal rounds have arrived exclusively from private investment.

The research firm anticipates that the investment will cover the rest of its extensive research into a treatment, while also progressing it to human clinical trials next year.

Originally identified in 2015, TUBB4A-related leukodystrophy – which mainly impacts babies and young children – is triggered by a mutation in the TUBB4A gene and currently has no cure.

Consequently, it disrupts the signals between nerve cells in the brain and also causes impairment of motor skills such as walking, sitting up and swallowing. Meanwhile, affected individuals can also suffer from seizures, muscle contractions, hearing and speech difficulties.

To progress its research, SynaptixBio has entered into a sponsored research agreement with the Children’s Hospital of Philadelphia (CHOP) in the US – a world-leading leukodystrophy centre – to develop a treatment from antisense oligonucleotides, which can prevent or alter the production of proteins.

The partnership – which also incorporates exclusive patent rights – allows SynaptixBio to translate CHOP’s research into human clinical trials.

SynaptixBio co-founder and chief executive officer, Dr Dan Williams, believes the funding is a significant step: “This latest funding round is the final piece of the investment jigsaw. Depending on external economic factors, it should enable us to continue our work all the way to clinic, which will be a fantastic achievement.”

He added: “Our mission to develop a treatment for this life-limiting condition has taken a huge step closer.”

Eladocagene exuparvovec, the only gene therapy for children with the ultra-rare genetic disorder aromatic L-amino acid decarboxylase (AADC) deficiency, has been recommended by the National Institute for Health and Care Excellence (NICE).

It is estimated that there are only ten UK-based children with the ultra-rare condition and a small number of these individuals may be eligible for the therapy.

AADC, which is triggered by a genetic mutation, leads to a wide range of severe symptoms, mainly affecting the central nervous system, autonomic nervous system, endocrine system and gastrointestinal system.

In younger children, motor development – such as head control, sitting and walking – is especially impacted.

NICE’s guidance recommends treatment with eladocagene exuparvovec – made by PTC Therapeutics – through a single dose that is designed to correct the underlying genetic defect in people 18 months and over who have a severe form of AADC deficiency.

Eladocagene exuparvovec is administered directly into the brain through a minimally invasive neurosurgical procedure. The clinical evidence shows that it improves motor development and that these improvements could be long-lasting.

Helen Knight, director of medicines evaluation at NICE, concluded: “The committee heard from patient experts about how the lives of children with AADC deficiency are severely impacted and shortened. They also heard about the substantial effect it has on the quality of life of the person with the condition and their family and carers.

“Eladocagene exuparvovec offers transformative benefits to people with AADC deficiency, and their family and carers. The committee agreed that the clinical trials showed the potential for substantial benefits that were sometimes clearly life-changing.”

Meanwhile, around 80% of people with AADC deficiency present with a severe form of the condition and are fully dependent on carers. In very severe cases, people may be bedridden with little or no motor function. Previously there have been no licensed treatments for AADC deficiency.

AstraZeneca and Daiichi Sankyo have announced that the Scottish Medicines Consortium (SMC) has accepted Enhertu for restricted use within NHS Scotland.

The therapy – also known as trastuzumab deruxtecan – will be incorporated as a monotherapy for the treatment of adult patients with unresectable or metastatic HER2-positive breast cancer who have also received one prior anti-HER2-based regimen.

The decision will create the opportunity for trastuzumab deruxtecan to be used earlier in the treatment pathway and as another option for patients living with metastatic HER2-positive breast cancer.

Other advice from SMC regarding the use of trastuzumab deruxtecan as monotherapy for the treatment of adult patients with unresectable or metastatic HER2-positive breast cancer, who have received two or more prior anti-HER2-based regimens, remains in place.

Haran Maheson, vice president, head of oncology at Daiichi Sankyo UK, was optimistic about the difference that therapy would make: “We are pleased to have worked in partnership with the SMC, NHS Scotland and the breast cancer community to make trastuzumab deruxtecan available earlier in the treatment pathway for eligible patients in Scotland and will work hard to support clinicians in their efforts to improve the quality of care to patients.”

Tom Keith-Roach, president, AstraZeneca UK, commented: “We are delighted with this decision by the SMC. Scotland is currently developing a new cancer strategy, and we look forward to partnering with the Scottish government to set a new ambition for cancer. Part of that ambition must be for rapid access to innovate cancer treatments, empowering the SMC to continue making positive decisions for Scottish patients like the one we’ve seen today.”

The impact of breast cancer is significant across Scotland, with 4,297 new cases diagnosed among women in 2020 alone. Indeed, it remains the most frequently diagnosed cancer in women, with one in eight Scottish women developing it in their lifetime.

The Institute of Cancer Research (ICR) has welcomed the ‘life-changing’ decision by the National Institute for Health and Care Excellence to recommend AstraZeneca’s olaparib. The targeted therapy has been developed for use among NHS patients with both prostate cancer and early-stage breast cancer.

The decision concerns treatment availability for forms of breast and prostate cancer caused by faulty BRCA1 or BRCA2 genes, offering the chance of longer, healthier lives for thousands of patients.

Access to olaparib for these specific groups of patients will follow standard treatment, ultimately helping prevent cancers from returning and improving overall chances of survival.

Meanwhile, men in England and Wales with advanced, incurable prostate cancer, who have BRCA1/2 mutations in their tumours – and whose cancer has progressed in spite of hormone therapy – will also have access to the treatment. Critically, this access has the potential to delay progression of disease, maintaining life for longer.

The ICR experts were grateful to NHS England and manufacturer AstraZeneca for establishing an agreement following complex negotiations over how olaparib would be priced according to different groups of cancer patients.

Professor Andrew Tutt, professor of breast oncology at the ICR, reflected: “This is an amazing moment in a long scientific journey starting with the discovery of the BRCA1 and BRCA2 genes more than 25 years ago, to ICR scientists identifying how to target a weakness in these cancers ten years later, all the way through to the completion of the phase 3 clinical trials.”

He added: “It is immensely satisfying to know this work will now allow patients within the NHS to join the many thousands of patients globally whose lives are transformed by this work.”