Revolutionary Gene Therapy Achieves NICE Backing, Offering Hope to Children with Ultra-Rare Disease

The UK’s National Institute for Health and Care Excellence (NICE) has given the go-ahead for PTC Therapeutics’ Upstaza (eladocagene exuparvovec) to be used in the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency in individuals 18 months of age or older.

This marks an important milestone in the fight against this rare, yet debilitating, condition. Upstaza could potentially bring much-needed relief to those affected, offering a new hope for recovery.

Upstaza, a gene therapy, was recently granted marketing authorization by the Medicines and Healthcare Products Regulatory Agency (MHRA) in the U.K. and the European Commission in July 2022, leading to a recommendation from the National Institute for Health and Care Excellence (NICE) in November 2022. This approval is a major breakthrough for the gene therapy, paving the way for its successful implementation.

Gene therapy is on the brink of revolutionizing healthcare, as PTC plans to submit a Biologics License Application (BLA) to the FDA in the first half of 2023. If approved, this groundbreaking move could be a major step in advancing medical treatment and improving patients’ lives.

The National Institute for Health and Care Excellence (NICE) has urged the NHS to ensure that leniolisib is made available to those who need it. This recommendation will help to ensure that patients have access to the best possible care.

The National Institute for Health and Care Excellence (NICE) has recommended that eladocagene exuparvovec should be made available to patients with AADC deficiency if their doctor believes it is the right treatment. This recommendation is outlined in NICE’s draft guidance document for Upstaza, offering hope to those who may benefit from this innovative treatment.

PTC has partnered with the NHS to offer Upstaza, a revolutionary gene therapy, at a discounted rate of approximately $3.7 million per 0.5-mL dose. This innovative treatment has the potential to revolutionize the way we approach chronic and life-threatening illnesses, paving the way for a healthier future.

After 25 years of leading PTC, Stuart Peltz, Ph.D., has stepped down from his position as CEO, replaced by the company’s current Chief Operating Officer, Matthew Klein, M.D. This announcement comes only a day after NICE recommended Upstaza, a drug developed by PTC.

The Condition and the Cure

AADC deficiency is an ultra-rare genetic disorder that affects approximately 1 in 64,000 to 1 in 90,000 births in the United States. This disorder usually reveals itself during the first year of life, bringing with it a range of symptoms such as developmental delays, lethargy, muscle stiffness, and difficulty in movement. For those affected, the impact of AADC deficiency can be devastating, making it difficult to reach their full potential.

AADC deficiency is a severe condition, with international consensus guidelines defining it as a lack or very limited progress in developmental milestones. This condition has a significant impact on patient quality of life, according to NICE’s draft recommendation.

AADC deficiency is a condition caused by a mutation in the DDC gene, resulting in a lack of the essential AADC enzyme. As a result, the body’s production of important neurotransmitters such as dopamine and serotonin is reduced, leading to a wide range of symptoms associated with the condition.

Upstaza is a revolutionary treatment that utilizes a recombinant adeno-associated virus to deliver a functioning copy of the DDC gene directly into the brain. Through a minimally invasive procedure, the therapeutic gene is administered to the patient and can dramatically improve their quality of life.

Before Upstaza, treatment for AADC deficiency was bleak. Patients often faced a long and arduous journey, involving a wide range of specialist doctors, just to get adequate symptom management. Sadly, most patients would not live past the age of 10.

In September 2021, PTC released a groundbreaking long-term analysis of Upstaza, demonstrating its incredible impact on motor function and cognitive skills – with results that lasted up to five years! This analysis showcased the immense potential of the innovative Upstaza, providing hope for those seeking to improve their physical and mental abilities.

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