Pioneering biotech firm secures second FDA designation of year to develop world’s first treatment for rare, incurable and deadly disease

A pioneering biotech firm aiming to develop the world’s first treatment for a rare, incurable and deadly disease has secured a second Food and Drug Administration (FDA) designation in 2023.

SynaptixBio, which was launched to develop a drug to tackle TUBB4A leukodystrophy – a genetic, debilitating and life-threatening disease, has been granted an orphan drug designation (ODD) by the US drug regulator.

According to the FDA, the designation – awarded following a rigorous scientific review by the Agency - supports “the development and evaluation of new treatments for rare diseases”.

An ODD enables firms to cut research costs by a quarter through tax credits, secure grants to offset development expenses, receive approved testing guidance, and be exempt from testing requirements and some regulatory fees.

As a result of the ODD, the Oxford-based company in the UK, which is aiming to begin clinical trials next year, could also be eligible to market the treatment exclusively for seven years in the US.

SynaptixBio CEO and co-founder Dr Dan Williams said the latest milestone highlights the progress the business has made since launching in 2021.

“The orphan drug designation enables the development of rare disease drugs,” he said. “This is therefore yet another significant landmark in our mission to find a treatment for TUBB4A leukodystrophy.”

It is the second time SynaptixBio has secured an FDA designation in recent months. Last month, the company announced it had been granted a rare paediatric disease (RPD) designation.

Dr Williams hopes they will help to secure a Priority Review Voucher (PRV), which can accelerate market access for therapeutics. They can also be sold or traded by sponsors, such as big pharma corporations.

In July last year, a PRV was sold by pharma multinational Mallinckrodt sold to Swiss giant Novartis for £81m ($100 million).

SynaptixBio plans to begin human clinical trials next year.

“These designations formed a key part of our growth strategy,” Dr Willams said. “By enabling us to cut red tape and costs, we are able to shorten the timescales around developing a potential drug – bringing it to market quicker and changing more lives.

“We are in a privileged position to be able to develop a treatment that could have such a major impact on TUBB4A patients.

“Essentially, these designations and a PRV will be the catalyst for human clinical trials by the end of 2024, with the aim of an approved treatment available for patients as soon as possible.”

Last year, SynaptixBio entered into a sponsored research agreement with the world-leading leukodystrophy centre the Children’s Hospital of Philadelphia (CHOP) in the US to develop a TUBB4A leukodystrophy treatment from antisense oligonucleotides (ASOs).

The deal, which also includes worldwide exclusive patent rights, allows SynaptixBio to translate CHOP’s research to first-in-human clinical trials, which could launch as early as 2024.

Dr Adeline Vanderver, who is program director of the Leukodystrophy Center at CHOP and a pre-eminent figure in the research related to TUBB4A, said: “ASOs provide the potential to stabilise, improve quality of life, and extend life expectancy of children suffering from the condition.

“Successful prevention of leukodystrophy progression would be revolutionary, life-saving, and life-enriching.”

TUBB4A leukodystrophy makes up 9% of a group of about 30 rare neurodegenerative disorders known as leukodystrophies.

According to the University of Utah in the US, leukodystrophies affect 1 in 7,663 births.  This means about 20,000 people could develop a leukodystrophy - and more than 2,200 with TUBB4A – each year.

Caused by a mutation in the TUBB4A gene, the disease disrupts myelin surrounding nerves, leading to interruption of the signals between nerve cells in the brain.

At its most severe, the condition can lead to significant impairment of motor skills such as walking, sitting up and even swallowing.

Patients can also develop seizures, muscle contractions, hearing and speech difficulties, and uncontrollable limb movements, while others who have developed motor skills in early childhood can regress.

It is hoped ASOs, which have previously been used to treat conditions such as Duchenne muscular dystrophy and spinal muscular atrophy, will dramatically improve the quality of, and extend, the lives of TUBB4A patients.

Dr Williams added that the treatment had the potential to “modify the underlying mechanisms of the disease, increase survival and significantly improve motor skills development.”

“We hope our work will have a significant impact on the lives of patients and their families,” he said. “Developing the first treatment for TUBB4A would be a monumental step forward in addressing this debilitating and life-threatening condition.

“By securing these designations, we are very much on course to take our research and development to clinic next year.”