Marisa Wexler, MS, senior science writer —

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…

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,…

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…

The science behind viral gene therapy — which may hold a potential cure in a single treatment for genetic diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency — was highlighted in a recent review. The study, “Current Clinical Applications of In Vivo Gene Therapy with AAVs,” was…

Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid decarboxylase (AADC) deficiency or other rare diseases, a study suggests. The findings were shared in a poster (no. 087), “Identification of individuals with likely AADC deficiency based on DDC variation in…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a press release from PTC Therapeutics, developer of a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. The day, recently designated AADC Deficiency Awareness Day in a resolution  passed by Massachusetts…

Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC) can be assessed through a high-resolution imaging technology called FMT-PET, a new study has confirmed. The study also showed that measuring changes in AADC activity in the brain by FMT-PET — an abbreviation for 6-fluoro-meta-tyrosine positron emission tomography —…

Two previously unknown gene mutations that cause aromatic L-amino acid decarboxylase (AADC) deficiency have been identified in two siblings whose cases were described in a new report. The mutations were found in the DDC gene in the African American sisters. Titled “Case report: discovery of 2…