News

Most aromatic l-amino acid decarboxylase (AADC) deficiency patients treated at a center in Taiwan share a common mutation in the DDC gene and experience a severe symptom burden, a new study shows. However, pediatric patients who received Upstaza (eladocagene exuparvovec) — a gene therapy for AADC deficiency now approved…

Delaware has become the 27th state in the U.S. to establish a Rare Disease Advisory Council (RDAC) to empower and equip rare disease community members to engage state leaders in issues important to patients and their families. This latest RDAC — established by passage of Senate Bill 55 (SB…

Researchers have gained new insights into the structure of the aromatic amino acid decarboxylase (AADC) enzyme — which is faulty or absent in people with AADC deficiency — that could help them interpret and predict the consequences of different disease-causing mutations. Regions of the DDC gene code for parts of…

Phreesia has acquired MediFind, which uses advanced analytics to help patients, particularly those with serious, chronic, and rare disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency, find better care. Phreesia offers digital solutions to healthcare providers, life sciences companies, and other organizations  to help patients take…

A group of international experts in aromatic L-amino acid decarboxylase (AADC) deficiency and similar neurologic conditions have developed guidelines for the safe application of gene therapy in AADC patients, and for needed outcome follow-up. The new recommendations come within a year of approvals in the European Union and the…

A free webinar on July 18 will offer insights into the patient journey in gene therapy trials, with a particular focus on rare diseases such as AADC deficiency. The webinar, “Rare Disease Trials and Gene Therapy: Understanding the Patient Journey,” will broadcast live beginning at 10 a.m. EDT, and…

For the first time, the rare disease patient advocacy organization Global Genes will hold its RARE Health Equity Forum, RARE Advocacy Summit, and other events during a single week, from Sept. 18-21 in San Diego. The global event, called Week in RARE, will also include the…

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…

GenScript ProBio and Comprehensive Cell Solutions (CCS) are partnering to accelerate the development of new cell and gene therapies, with the goal of making these treatments affordable and quickly accessible to patients. Such therapies could ultimately benefit people living with rare disorders such as aromatic l-amino decarboxylase…

An international team of researchers have reported 121 new cases of aromatic L-amino acid decarboxylase (AADC) deficiency and identified 26 novel disease-associated mutations in the DDC gene. Among the nearly 350 reported cases of AADC deficiency globally — including the 121 new ones — the vast majority of DDC mutations…