Marisa Wexler, MS, senior science writer —

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…

The World Orphan Drug Alliance, known as WODA — a global coalition of pharmaceutical partners with rare disease portfolios — is expanding to cover more countries in Asia and Africa, according to a press release from the organization. The overarching aim, according to the alliance, is to provide greater…

The U.S. Food and Drug Administration (FDA) has responded favorably, in recent years, to the use of real-world data in applications that seek approval of new treatments for rare diseases — especially when the therapy has a dramatic and clear effect — a team of researchers concluded in a new…

Genetic testing done for a 55-year-old woman diagnosed with an unusually mild case of AADC deficiency revealed a disease-causing gene mutation never before reported, according to researchers. The newly identified mutation, while indeed found to be a cause of the patient’s genetic disease, still allowed for the relatively preserved…

Treatment with sertraline, an antidepressant sold under the brand name Zoloft among others, worked to ease anxiety in a young girl with AADC deficiency who had received treatment with the gene therapy Upstaza (eladocagene exuparvovec). The youngster was able to more effectively communicate, eat better, and walk independently…

The first successes of gene therapy for AADC deficiency highlight the potential that gene therapies have to improve life for people affected by neurological disorders, researchers said in a new review paper. The paper, “Gene therapy for neurodegenerative disorders in children: dreams and realities,” was published…

Following gene therapy, people with AADC deficiency should receive a few weeks of intensive physical therapy, with additional physical therapy and age-appropriate rehabilitative support in the months and years that follow. That’s according to new recommendations put forward in a paper, “A position statement on the…