News

Curant Health Designated a Partner in Rare Disease Advocacy

The national outcomes-based patient support organization Curant Health has joined rare360, a Rare Advocacy Movement (RAM) partnership program that seeks to connect, build up, and protect community-focused industry, academic, and advocacy stakeholders in rare disorders. “Being a partner with the Rare Advocacy Movement (RAM) and a registered…

Group Calls for Support as FDA Orphan Drug Act Turns 40

In marking the 40th year of the Orphan Drug Act (ODA) — used by the U.S. Food and Drug Administration (FDA) to spur treatment development for rare diseases — a life sciences industry coalition is calling on legislators and other policymakers to make a new commitment to finding therapies…

IndoUSrare Hopes to Promote Global Efforts in Rare Disease Research

IndoUSrare, a U.S.-based humanitarian organization, is working to build international connections between scientists to accelerate research that aims to improve care for people affected by rare diseases, such as AADC deficiency. “The solution to the considerable economic and social challenges presented by rare diseases is global collaboration. The…

Genomenon, Nonprofits Team Up on Genomic Data for Rare Diseases

Genomenon, an artificial intelligence (AI)-driven genomics company, is teaming up with three disease research foundations to develop comprehensive genomic data on rare genetic neurodevelopmental disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency. The goal is to advance precision medicine — a form of medicine that uses information…

Upstaza, Gene Therapy for AADC Deficiency, Approved in UK

The gene therapy Upstaza (eladocagene exuparvovec) has been approved in the U.K. to treat adults and children, 18 months and older, with aromatic l-amino acid decarboxylase (AADC) deficiency. This decision by the country’s Medicines and Healthcare Products Regulatory Agency (MHRA) comes about four months after a similar approval by…

Classifying DDC Variants Will Help Interpret Genetic Test Results

Researchers classified variants of the DDC gene that causes AADC deficiency according to their disease-causing potential, a study reported, the first study to identify and characterize previously unknown DDC variants. “Given that genetic testing is a core diagnostic test for AADC deficiency, a comprehensive catalogue of the genetic variants…