Forest Ray PhD,  —

The second AADC Deficiency Awareness Day will take place virtually on Oct. 22. It is sponsored by the AADC Family Network and PTC Therapeutics, which is currently developing a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. PTC announced the event, which aims to raise awareness…

A gene therapy dramatically improved the motor functions and quality of life in children with aromatic L-amino acid decarboxylase (AADC) deficiency in a recent Phase 1 clinical trial. The healthy copy of the AADC gene that the children received corrected the seizure-like episodes associated with the disorder and, in…

Examining cerebrospinal fluid — the liquid surrounding the brain and spinal cord — remains the best way to diagnose aromatic L-amino acid decarboxylase (AADC) deficiency, a recent study confirms. The investigation also found that measuring treatment response by routinely re-examining this fluid appears unnecessary, and that certain molecules found…

Diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency in newborns is “feasible” using dried blood spots and readily available equipment, allowing for earlier and more effective treatment, researchers report. The study detailing this method, “Detection of 3-o-methyldopa in dried blood spots for neonatal diagnosis of aromatic l-amino-acid decarboxylase…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

PTC Therapeutics is preparing to launch PTC-AADC, its experimental gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency, the company has announced in a press release. Among other launch efforts, the company is expanding its genetic testing program, while finding and preparing expert pediatric neurosurgical centers.

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…