UCB has launched Aspire4Rare, a framework to “future-proof” health policies for rare diseases like aromatic l-amino-acid decarboxylase (AADC) deficiency, with the goal being to ensure faster diagnoses, better care, and access to new treatments. Developed in collaboration with a panel of experts in rare diseases from the U.S.
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 Energy and Commerce Health subcommittee of the U.S. House of Representatives has voted to advance proposed legislation — several bipartisan bills — to support research into rare disease, including conditions such as aromatic l-amino acid decarboxylase (AADC) deficiency. Among the bills moving forward are two that will encourage…
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…
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