Updates

January 21, 2020January 21, 2020
Study Identifies New Mechanisms of AADC Deficiency Mutations

Mutations discovered in the past five years that cause aromatic amino acid decarboxylase (AADC) deficiency affect the functioning of the AADC protein in previously unappreciated ... Read more
January 14, 2020
PTC Seeks Marketing Authorization for its AADC Gene Therapy in Europe

PTC Therapeutics is seeking approval of PTC-AADC, a gene therapy candidate to treat aromatic l-amino acid decarboxylase (AADC) deficiency, from the European Medicines Agency ... Read more
January 9, 2020January 10, 2020
Music Therapy for AADC Deficiency

Many patients with aromatic L-amino acid decarboxylase (AADC) deficiency are non-verbal and have difficulty communicating with their parents or caregivers. Music therapy may be used ... Read more
January 6, 2020January 7, 2020
Dried Blood Spots Could Be Used to Diagnose AADC Deficiency in Newborns, Study Suggests

A new technique using dried blood spots could help in the diagnosis of aromatic L-amino-acid decarboxylase (AADC) deficiency and may be especially useful in ... Read more
December 10, 2019December 10, 2019
Gene Therapy Takes Center Stage at 2019 NORD Summit

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare ... Read more

News

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases
December 6, 2019
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or ...
Health Insights

Equine Therapy for AADC Deficiency
December 6, 2019
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by muscle ...
News

PTC Therapeutics Announces No-cost Program for Diagnosing AADC Deficiency
November 19, 2019November 19, 2019
PTC Therapeutics has launched a program to deliver — at no cost — blood ...
Health Insights

How Will AADC Deficiency Affect my Child’s Life Expectancy?
November 15, 2019November 15, 2019
As a parent, learning that your child has a rare disease like aromatic L-amino acid ...
News

Rare Disease Film Festival Highlights Patient and Researcher Unity
November 13, 2019
Rare disease-themed videos glowed on a large screen before an audience of people in ...
Health Insights

Tips for Schools That Cater to Children with AADC Deficiency
November 8, 2019
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the nervous ...

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Gene Therapy Candidate PTC-AADC Sustains Motor, Cognitive, Language Improvements for Up to 5 Years, New Data Show
October 29, 2019October 29, 2019
PTC Therapeutics‘ gene therapy candidate PTC-AADC (formerly AGIL-AADC) provided clinically meaningful and sustained improvements ...
Speech and Language Delays in AADC
October 25, 2019
Caring for a child with a developmental disorder such as aromatic L-amino acid decarboxylase ...
Planning for the Future for Your Child With AADC
October 18, 2019
Warning Signs of Depression in AADC Deficiency Caregivers
October 11, 2019October 18, 2019
What is an Individualized Education Plan for AADC Deficiency?
October 4, 2019
NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC
September 27, 2019

How Could Gene Therapy Help AADC Deficiency Patients?
September 27, 2019September 27, 2019
Gene therapy — replacing a faulty gene in the body — may hold the ...
Tips for Managing Stress for AADC Deficiency Caregivers
September 13, 2019
How to Improve Diet and Nutrition for Children with AADC Deficiency
September 6, 2019
DDC Mutations Associated with Risk of Developing Severe Malaria, Review Study Shows
September 3, 2019September 3, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
September 2, 2019August 30, 2019
Rare diseases deeply affect not only the children who experience them, but also their ...
At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
August 29, 2019August 28, 2019
How to Build a Treatment Plan for School/Daycare for a Child with AADC
August 29, 2019

News

Strengths and Pitfalls of Methods Used to Diagnose AADC Deficiency Focus of Review
August 27, 2019
A broad range of diagnostic tools are available for diagnosing AADC deficiency and similar ...
Health Insights

Taking Care of AADC Caregivers
August 23, 2019
Caring for a child with physical and mental disabilities is a full-time job that ...
News

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 20, 2019August 19, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...
Health Insights

Lumbar Puncture Can Help Diagnose AADC
August 16, 2019
A lumbar puncture (also called a spinal tap) is a test that can help ...
News

Study Suggests New Function for AADC, the Enzyme Missing in AADC Deficiency
August 13, 2019
Aromatic L-amino acid decarboxylase (AADC), the enzyme deficient in patients with AADC deficiency, also ...
Health Insights

5 Tips for Making Every Doctor Visit Count When Your Child Has AADC Deficiency
August 9, 2019August 19, 2019
Effectively managing your child’s aromatic l-amino acid decarboxylase (AADC) deficiency can be challenging. Here ...
Health Insights

FAQs in AADC
August 2, 2019August 5, 2019
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare disease with about 100 people ...
News

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, ...
News

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 1, 2019
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of ...

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