News

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…

Partners to Develop Novel Tools for Global Rare Disease Research

QualityMetric and Pulse Infoframe are collaborating to develop instruments across rare diseases to support global research initiatives, including those searching for treatments. The scientifically validated instruments and surveys would prospectively benefit patients and families as well as scientists, treatment developers, and advocates. More than 300 million people…

EveryLife Introduces First of Kind ‘Roadmap’ to ICD Codes

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Caregivers of Children With AADC Deficiency Share Daily Experiences

Children with aromatic l-amino acid decarboxylase (AADC) deficiency experience a wide range of symptoms and difficulties in day-to-day activities, which can have substantial affects on their quality of life, a study based on interviews with caregivers reported. This is the first published scientific study to explore the qualitative experience…

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…