PTC Therapeutics named winner of 2023 Eurordis Black Pearl award

Developer of AADC gene therapy cited for rare disease innovation

Joana Vindeirinho, PhD avatar

by Joana Vindeirinho, PhD |

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PTC Therapeutics has been named the winner of the 2023 Eurordis Black Pearl award for innovation in rare diseases, which each year recognizes one company that contributes significantly to the advancement of research and development.

Among other achievements, Eurordis — fully, the European Organization for Rare Diseases — highlighted PTC’s development of the gene therapy Upstaza for aromatic L-amino acid decarboxylase (AADC) deficiency.

Upstaza (eladocagene exuparvovec) last year became the first and only disease-modifying therapy approved for the ultra-rare condition in Europe and the U.K. A regulatory application seeking the gene therapy’s approval in the U.S. is expected to be submitted by mid-year.

“We are honored to accept this award and deeply appreciate the recognition of PTC’s commitment to providing access to best-in-class treatments for people living with rare diseases with little to no treatment options,” Stuart W. Peltz, PhD, CEO of PTC, said in a company press release.

In addition to AADC deficiency, PTC has in its pipeline therapy candidates that target the genetic causes of cancers, neurological diseases and metabolism disorders.

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Eurordis awards PTC Therapeutics for innovation

The Black Pearl Awards ceremony will be held Feb. 21, in Brussels, Belgium. At the event, Eurordis will recognize the winners of each of its 12 annual awards, which go to individuals, organization members, scientists, and companies working toward awareness of and treatment for rare diseases.

“We offer our hearty congratulations to PTC Therapeutics for winning the Eurordis Black Pearl company award for innovation,” said Michael Wilbur, chief operating officer of Eurordis. The organization noted PTC’s “groundbreaking activities to advance rare disease research and medicines development.”

A key area for PTC is AADC deficiency — a very rare genetic condition, with about 150 cases reported worldwide.

AADC deficiency affects brain signaling, leading to symptoms such as developmental delays, motor impairment, and eye movement problems known as oculogyric crises. Patients also may experience behavioral problems, anxiety, and depression.

The disease is caused by mutations in the DDC gene, which is responsible for producing an enzyme called AADC. These mutations can result in dysfunctional or insufficient AADC, or both, with severe consequences for signal transmission between nerve cells.

Upstaza is a gene therapy that uses a harmless modified virus as a carrier to deliver a healthy copy of the DDC gene to nerve cells, so that they can produce working AADC enzymes. The restoration of AADC activity may then counter the effects of the disease and ease symptoms.

A single dose of Upstaza is administered directly to a brain region called the putamen through a surgical procedure. The putamen is involved in motor and non-motor functions and is substantially affected by AADC deficiency.

In clinical trials, the therapy was shown to result in sustained and significant improvements in motor and cognitive function, with some treated children achieving important motor milestones. These positive results supported regulatory approvals in the European Union and the U.K.

We are honored to accept this award and deeply appreciate the recognition of PTC’s commitment to providing access to best-in-class treatments for people living with rare diseases with little to no treatment options.

Beyond its work on AADC deficiency, the Black Pearl award also celebrates PTC’s important contributions for other rare diseases over the years. These include the development of transformative therapies approved for neuromuscular genetic diseases such as Duchenne muscular dystrophy and spinal muscular atrophy, known as SMA.

“This award is especially meaningful as we proudly celebrate our 25-year history of serving the rare disease community,” Peltz said.

At the award ceremony, Eurordis also will highlight Rare Disease Day 2023. This awareness event is observed on the last day of February each year, and aims to lift, empower, and connect rare disease communities worldwide.