News

Genomics companies Ambry Genetics and PacBio are coming on board to help the GREGoR Consortium achieve its goal of identifying the specific genetic underpinnings of rare diseases. The aim of the collaboration is to use advanced genetic sequencing techniques to screen the entire genome, the complete set…

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…

TeleRare Health has launched a video-based virtual clinic exclusively for people in the U.S. who are living with a rare disease, which may provide a new resource to individuals with conditions such as aromatic l-amino acid decarboxylase (AADC) deficiency. The goal, the Minnesota-based virtual…

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…

A 62-year-old woman was found to have acquired aromatic L-amino acid decarboxylase (AADC) deficiency due to a self-directed autoimmune attack, a case study reported. She also had severe orthostatic hypotension, or a drop in blood pressure when standing up, which was successfully treated with vitamin B6 supplements,…

Eurordis has welcomed as a “significant stride forward” the latest European Parliament plenary vote for compromise amendments to bridge the gap between accelerated scientific progress and patient care. The recent vote was in favor of proposed reforms to the European Union’s general pharmaceutical legislation, which includes proposed…

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…

PTC Therapeutics has submitted its application seeking the approval of Upstaza (eladocagene exuparvovec) — a one-time gene therapy to correct the underlying cause of aromatic L-amino acid decarboxylase (AADC) deficiency — to the U.S. Food and Drug Administration (FDA). “We are excited to bring Upstaza one step closer to children…