AADC News

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

March 17, 2021March 17, 2021

3-OMD Levels in Dried Blood Spots May Help to Diagnose AADC Deficiency

AADC News

Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency, a recent study suggests. This approach would be less invasive for patients, who often ... Read more

March 10, 2021March 10, 2021

PTC Opens Online Resource to Help Doctors Diagnose AADC Deficiency

AADC News

A new online resource, called AADC Insights, aims to make it easier for healthcare professionals to diagnose and care for people with aromatic l-amino acid decarboxylase (AADC) deficiency. AADC deficiency ... Read more

March 10, 2021March 10, 2021

Intensive Care for AADC Deficiency

AADC News

If you have a child with aromatic l-amino acid decarboxylase (AADC) deficiency, they may be at an increased risk of needing intensive medical care. Here is more information about what ... Read more

March 4, 2021March 4, 2021

Review Highlights Gene Therapies That Greatly Improve Potential for Cure

AADC News

The science behind viral gene therapy — which may hold a potential cure in a single treatment for genetic diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency — was highlighted ... Read more

March 3, 2021March 3, 2021

Shoshin for AADC Caregivers

AADC News

Providing constant care and supervision to a child with a chronic disease such as aromatic l-amino acid decarboxylase (AADC) deficiency can be mentally, physically, and emotionally draining. A Japanese concept ... Read more