Marisa Wexler, MS, senior science writer —

Two years after treatment with the gene therapy Kebilidi (eladocagene exuparvovec-tneq), Sriansh Ojha, a toddler with AADC deficiency, is walking and talking. Sriansh received Kebilidi in 2022 as part of the Phase 2 clinical trial (NCT04903288) that formed the basis of the U.S. Food and Drug Administration…

The U.S. Food and Drug Administration (FDA) has approved PTC Therapeutics’ one-time gene therapy, now called Kebilidi (eladocagene exuparvovec-tneq) in the U.S., for children and adults with AADC deficiency across the full spectrum of disease severity. The decision makes Kebilidi, also approved under the brand name Upstaza…

Disparities diagnosing rare genetic diseases in minority racial communities likely are due to systemic barriers, and are not because genetic tests are less likely to provide usable results in nonwhite patients, a new study led by a genetics company suggests. The study, by Genedx and its collaborators, found that…

Running clinical trials for any rare disease is difficult, but steps like using innovative trial designs and taking advantage of real-world data can help facilitate these important studies across all rare conditions. That’s according to a new paper titled “Rare disease clinical trials in the European Union: navigating regulatory…

Since its launch 12 years ago, a program to incentivize drug development for rare diseases that affect children has led to the approval of dozens of new treatments, but without congressional action, the program is set to expire by the end of September. The National Organization for Rare Disorders (NORD)…

A novel diagnostic algorithm used in a pilot study in Germany was able to provide diagnoses for hundreds of rare disease patients in the country, including one with AADC deficiency, over a three-year period, according to a new report. The algorithm incorporates exome sequencing — a type of genetic…

Scientists have created a novel tool called SynthMD that can be used to generate artificial datasets for rare diseases, which could help accelerate the development of new software to advance rare disease research. A paper describing this work, titled “Synthetic datasets for open software development in rare disease…

People living with rare diseases frequently end up being responsible for communication between their healthcare providers, a new study from Germany highlights. The finding “supports the need for establishing structures to unburden patients and caregivers from long distance travelling and being responsible for organizing their own healthcare,” researchers wrote in…

The U.S. Food and Drug Administration (FDA) has agreed to review an application seeking the approval of Upstaza (eladocagene exuparvovec), PTC Therapeutics’ one-time gene therapy for AADC deficiency. The FDA placed the company’s application under priority review, which shortens the review period to about six months from…

Mississippi Gov. Tate Reeves has signed into law a bill that establishes a rare disease advisory council (RDAC) in the state. “I was proud to sign Senate Bill 2156 into law,” Reeves said in a press release from the National Organization for Rare Disorders (NORD). “Our state remains…