Marisa Wexler, MS, senior science writer —

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…

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…