Author Archives: Marta Figueiredo PhD

New Tools May Help Assess Impact of Future AADC Therapies

Researchers have developed and validated new tools to help evaluate health-related quality of life, or HRQoL, in people with aromatic l-amino acid decarboxylase (AADC) deficiency. These tools can be used to assess the cost-effectiveness ratio of future treatments, according to the team. The study, “A Discrete…

PTC-AADC Infusion Into Brain Shows Promise Against Symptoms

Delivering the investigational gene therapy PTC-AADC to a specific part of the brain, called the putamen, was found to significantly and effectively lessen motor and non-motor symptoms in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a review-like study highlights. “Before this treatment, the children with AADC deficiency…

PTC Study Shows Profound Effects of AADC on Caregivers

Caregivers of children with aromatic l-amino acid decarboxylase (AADC) deficiency spend the bulk of their days providing care, with most needing additional help and having to quit their jobs or greatly reduce working hours, according to responses to a questionnaire developed by PTC Therapeutics. “As with so many rare…