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…
A review of recent medical literature confirmed low muscle tone, developmental delays, and oculogyric crises — when the gaze becomes fixed upward due to spasms in the eye muscles — are all hallmark signs of aromatic l-amino acid decarboxylase (AADC) deficiency, with symptom onset occurring within 6 months of…
Since its founding more than 25 years ago, Eurordis has presented and promoted initiatives to ensure that people with rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, are at the heart of treatment development. That work continues — and indeed, Eurordis is stepping up its…
Get regular updates to your inbox.