AADC News

September 8, 2021September 8, 2021

Free Regulatory Support Offered to Ultra-rare Disease Advocates

AADC News

The clinical research organization MMS Holdings has launched a free program to help advance research and provide regulatory support to ultra-rare disease patient advocacy groups. Most rare diseases are ultra-rare conditions, ... Read more

August 11, 2021August 11, 2021

Virtual AADC Deficiency Awareness Day is Oct. 22

AADC News

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 ... Read more

July 14, 2021July 14, 2021

Gene Therapy Boosts Motor Skills, Life Quality in Young Patients

AADC News

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 ... Read more

July 7, 2021July 7, 2021

Partners to Develop Novel Tools for Global Rare Disease Research

AADC News

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 ... Read more

June 30, 2021June 30, 2021

Analyzing Patients’ Urine for Organic Acids May Speed Diagnosis

AADC News

Analyzing levels of certain organic acids in the urine can be a useful first step in diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency, a new report highlights. Using urine analyses ... Read more

June 2, 2021June 2, 2021

Caregivers of Children With AADC Deficiency Share Daily Experiences

AADC News

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 ... Read more

May 26, 2021May 26, 2021

Mild Disease Linked to Slight Changes in AADC Protein Structure

AADC News

Recently-characterized mutations that have been associated with mild AADC deficiency cause some alterations to the AADC protein, but do not drastically alter the protein’s structure, according to a new analysis. ... Read more

May 19, 2021May 19, 2021

PTC Study Shows Profound Effects of AADC on Caregivers

AADC News

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 ... Read more

May 12, 2021May 12, 2021

PTC-AADC Gene Therapy Safe, Showing Promise for Children

AADC News

Using PTC-AADC gene therapy in children with aromatic l-amino acid decarboxylase (AADC) deficiency was found to be relatively safe and led to improvements in motor function, cognitive abilities, and breathing, ... Read more

May 5, 2021May 5, 2021

Cerebrospinal Fluid Remains Best Diagnostic Method

AADC News

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 ... Read more

April 28, 2021April 28, 2021

AADC Activity in Brain Evident 2 Years After Gene Therapy, Trial Data Show

AADC News

A viral vector-delivered gene therapy can restore the activity of the AADC enzyme in people with AADC deficiency for at least two years, research drawing on clinical trial data shows. ... Read more

April 21, 2021April 21, 2021

#AANAM – PTC-AADC Gene Therapy Found to Improve Patient Motor Function

AADC News

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 ... Read more

April 14, 2021April 14, 2021

EveryLife Scholarship Fund Open Until May 7 for Adults With Rare Diseases in US

AADC News, COVID-19 News

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a ... Read more

April 7, 2021April 7, 2021

Rapid Screening of Newborns for AADC Deficiency Possible, Study Says

AADC News

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 ... Read more

March 24, 2021March 24, 2021

New Patient-derived Nerve Cell Model Will Aid in Research, Testing

AADC News

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 ... Read more