Margarida Maia, PhD,  science writer—

The European Rare Diseases Research Alliance (ERDERA) was launched officially last week with the vision to offer better diagnosis and treatment for the 30 million people living in Europe with a rare disease like aromatic L-amino acid decarboxylase (AADC) deficiency. Coordinated by the National Institute of Health and…

The Department of Health-Abu Dhabi and AstraZeneca are partnering to set up a center of excellence for rare diseases in the capital city of the United Arab Emirates. The two parties have signed a memorandum of understanding that outlines how they will work together on their shared mission to…

UCB has launched Aspire4Rare, a framework to “future-proof” health policies for rare diseases like aromatic l-amino-acid decarboxylase (AADC) deficiency, with the goal being to ensure faster diagnoses, better care, and access to new treatments. Developed in collaboration with a panel of experts in rare diseases from the U.S.

PTC Therapeutics plans to seek the U.S. approval this month of Upstaza (eladocagene exuparvovec), its one-time gene therapy that’s meant to address the root cause of aromatic L-amino acid decarboxylase (AADC) deficiency, the company announced. The company met with the U.S. Food and Drug Administration (FDA)…

Measuring the levels of 3-O-methyldopa (3-OMD), a molecule that builds up in aromatic l-amino-acid decarboxylase (AADC) deficiency, can diagnose the disease in newborns, allowing it to be treated early in life, according to a German study. The study, “Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies,…

Skip Therapeutics is teaming up with the Sheba Medical Center in Israel to develop antisense oligonucleotides (ASOs), a type of therapy that can change a given gene’s activity, for rare diseases with a genetic basis. ASOs can be tailored to address specific genetic mutations, offering a bespoke treatment…

Exome sequencing, a method to decode DNA, may be useful for screening for mutations — including ones in the DDC gene — that cause aromatic L-amino acid decarboxylase (AADC) deficiency, a study from Italy suggests. The method may help to identify such mutations in children who have symptoms of…

In a new collaboration, Novo Nordisk plans to explore Life Edit Therapeutics’ innovative gene-editing technology for the treatment of rare genetic diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency. The therapeutic targets have yet to be disclosed, but the partnership provides for the development of as…

The National Organization for Rare Disorders (NORD) is seeking to address health disparities in the rare disease community in the U.S. with the launch of new “Latino/a/x & Hispanohablantes Community Listening Sessions” — events for patients and caregivers who are, as the name says, Latino and Spanish-speaking individuals. Listening…

The misdiagnosis and delayed diagnosis of AADC deficiency is common and can prevent patients from getting timely access to the treatment they need, most often resulting in poor outcomes. That’s according to a report of 16 patients in the Middle East, one of whom was found to carry a…