News

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…

Four biomarkers of aromatic l-amino acid decarboxylase (AADC) deficiency have been identified in the cerebrospinal fluid of children with the condition, a new study reports. These disease markers may aid in diagnosis when adjusted for a patient’s age, the researchers said.

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

The genetic variant that most commonly causes aromatic l-amino acid decarboxylase (AADC) deficiency seems to result in severe clinical manifestations, according to findings from the largest patient group from mainland China. According to the study, this variant — c.714+4A>T — led to significant delays in developmental milestones and total inability…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Most patients with aromatic l-amino acid decarboxylase (AADC) deficiency experience a combination of severe motor symptoms and prominent non-motor symptoms that persist from childhood to adulthood, according to findings from a recent study. Some older patients, however, have milder forms of the disease and are able to walk and sit independently, attend…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

PTC Therapeutics is planning to request U.S. Food and Drug Administration (FDA) approval of PTC-AADC, its investigational gene therapy to treat aromatic l-amino acid decarboxylase (AADC) deficiency, the company announced in a corporate update. The request will be made in the form of a biologics license application to the FDA in…