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…
Centogene and Premier Research are teaming up to promote patient identification and enrollment in rare disease clinical trials, with the ultimate goal to increase the chances the trials will succeed. The effort aims to accelerate treatment solutions for the 350 million rare disease patients around the world, including…
Medable, a technology platform for clinical trials, has partnered with the nonprofit Every Cure to speed the discovery of treatments for rare diseases — such as aromatic l-amino acid decarboxylase (AADC) deficiency — with the help of drug repurposing. The partners will focus on identifying new uses…
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…
As U.S. lawmakers prepare to head home for the holidays, the National Organization for Rare Disorders (NORD) held out hope they would still act to ensure that people with rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency get timely access to treatments and diagnostic tools. On…
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…
PacBio‘s HiFi DNA sequencing technology will be used in a pilot project to detect new genetic variants associated with rare childhood diseases, such as AADC deficiency. Run by the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital, in Massachusetts, the project involves a detailed analysis…
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…
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…
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…
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