Author Archives: Forest Ray PhD

Virtual AADC Deficiency Awareness Day is Oct. 22

The second AADC Deficiency Awareness Day will take place virtually on Oct. 22. It is sponsored by the AADC Family Network and PTC Therapeutics, which is currently developing a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. PTC announced the event, which aims to raise awareness…

Gene Therapy Boosts Motor Skills, Life Quality in Young Patients

A gene therapy dramatically improved the motor functions and quality of life in children with aromatic L-amino acid decarboxylase (AADC) deficiency in a recent Phase 1 clinical trial. The healthy copy of the AADC gene that the children received corrected the seizure-like episodes associated with the disorder and, in…

Cerebrospinal Fluid Remains Best Diagnostic Method

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…

Rapid Screening of Newborns for AADC Deficiency Possible, Study Says

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…

PTC Preparing to Launch Gene Therapy, Pending Approval

PTC Therapeutics is preparing to launch PTC-AADC, its experimental gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency, the company has announced in a press release. Among other launch efforts, the company is expanding its genetic testing program, while finding and preparing expert pediatric neurosurgical centers.