News

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…

A viral vector-delivered gene therapy can restore the activity of the AADC enzyme in people with AADC deficiency for at least two years, research drawing on clinical trial data shows. Findings were in the study “Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic L-amino…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The investigational gene therapy PTC-AADC improved motor function in children with aromatic l-amino acid decarboxylase (AADC) deficiency in several clinical studies, new data show. These findings were presented at this year’s American Academy of Neurology annual meeting by Mark Pykett, PhD, the chief scientific officer of PTC…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

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…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

Researchers have developed a patient-derived cell model of aromatic l-amino acid decarboxylase (AADC) deficiency that could provide important insights into the biological underpinnings of the disease, as well as serve as a platform to test potential treatments. The nerve cell model was described in the journal Brain,…

Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency, a recent study suggests. This approach would be less invasive for patients, who often undergo multiple lumbar punctures before a final diagnosis, and could be used to screen for the disease in newborns.

A new online resource, called AADC Insights, aims to make it easier for healthcare professionals to diagnose and care for people with aromatic l-amino acid decarboxylase (AADC) deficiency. AADC deficiency is an extremely rare condition caused by mutations in the DDC gene, resulting in a lack of a…