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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 ...
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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 ... -
Analyzing Patients’ Urine for Organic Acids May Speed Diagnosis
Analyzing levels of certain organic acids in the urine can be a useful first step ... -
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 ... -
Mild Disease Linked to Slight Changes in AADC Protein Structure
Recently-characterized mutations that have been associated with mild AADC deficiency cause some alterations to the ... -
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 ... -
PTC-AADC Gene Therapy Safe, Showing Promise for Children
Using PTC-AADC gene therapy in children with aromatic l-amino acid decarboxylase (AADC) deficiency was found ... -
Cerebrospinal Fluid Remains Best Diagnostic Method
Examining cerebrospinal fluid — the liquid surrounding the brain and spinal cord — remains the ... -
AADC Activity in Brain Evident 2 Years After Gene Therapy, Trial Data Show
A viral vector-delivered gene therapy can restore the activity of the AADC enzyme in people ... -
#AANAM – PTC-AADC Gene Therapy Found to Improve Patient Motor Function
The investigational gene therapy PTC-AADC improved motor function in children with aromatic l-amino acid decarboxylase ... -
EveryLife Scholarship Fund Open Until May 7 for Adults With Rare Diseases in US
The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to ... -
Rapid Screening of Newborns for AADC Deficiency Possible, Study Says
Diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency in newborns is “feasible” using dried blood spots and ... -
New Patient-derived Nerve Cell Model Will Aid in Research, Testing
Researchers have developed a patient-derived cell model of aromatic l-amino acid decarboxylase (AADC) deficiency that ... -
3-OMD Levels in Dried Blood Spots May Help to Diagnose AADC Deficiency
Measuring 3-O-methyldopa (3-OMD) levels in dried blood spots could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) ... -
PTC Opens Online Resource to Help Doctors Diagnose AADC Deficiency
A new online resource, called AADC Insights, aims to make it easier for healthcare professionals ... -
Intensive Care for AADC Deficiency
If you have a child with aromatic l-amino acid decarboxylase (AADC) deficiency, they may be ... -
Review Highlights Gene Therapies That Greatly Improve Potential for Cure
The science behind viral gene therapy — which may hold a potential cure in a ... -
Shoshin for AADC Caregivers
Providing constant care and supervision to a child with a chronic disease such as aromatic ... -
About iNTD and How It Can Benefit Patients With AADC Deficiency
The International Working Group on Neurotransmitter Related Disorders, known as iNTD, is an organization that ... -
Importance of Advocacy for AADC Deficiency
If your child has a disease as rare as aromatic l-amino acid decarboxylase (AADC) deficiency, ... -
AADC Deficiency and Scoliosis
Children with aromatic l-amino acid decarboxylase (AADC) deficiency can, over time, develop scoliosis. This spinal ... -
Italian Expert Panel Issues Diagnostic, Treatment Guidelines
An Italian panel of experts recommends using vitamin B6, dopamine agonists, and monoamine oxidase inhibitors ... -
What Do Results of Various Tests Mean in AADC Deficiency?
Various tests, particularly blood tests, are normally requested if a doctor suspects your child may ... -
Non-invasive MRI May Help Diagnose AADC Deficiency
Systematic analysis of non-invasive MRI brain scans of people with aromatic l-amino acid decarboxylase (AADC) ... -
AADC Deficiency and Infections
Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease with a range of symptoms, ... -
Genomic Database Screening Can Help Find People with Rare Diseases
Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid ... -
Neuropsychological Treatment of AADC Deficiency Patients
Children with aromatic l-amino acid decarboxylase (AADC) deficiency may experience a number of emotional and ... -
PTC Preparing to Launch Gene Therapy, Pending Approval
PTC Therapeutics is preparing to launch PTC-AADC, its experimental gene therapy for aromatic l-amino acid ... -
Paramedical Treatments for AADC Deficiency Patients
Paramedical treatment is an important aspect in the care of many chronic diseases, including aromatic ... -
Becoming Teens and Adults With AADC Deficiency
Children with aromatic l-amino acid decarboxylase (AADC) deficiency can live to be teenagers and adults, ... -
AADC Deficiency and Ethnicity
Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease caused by mutations in ... -
PTC Therapeutics Develops Tools to Assess Health-related Quality-of-life
PTC Therapeutics has developed and validated tools to help assess health-related quality of life (HRQoL) ... -
Your Multidisciplinary Treatment Team: Who Will See Your Child With AADC Deficiency?
While aromatic l-amino acid decarboxylase (AADC) deficiency primarily affects the nervous system, it also can ... -
Centogene, PTC Expand Partnership to Offer AADC Deficiency Testing to More People
Centogene has expanded its partnership with PTC Therapeutics to make its genetic and biomarker testing ... -
AADC Deficiency and the Heart
As a very rare genetic medical condition affecting the nervous system, aromatic l-amino acid decarboxylase ... -
Respite Care for Children With AADC Deficiency
Providing constant care and supervision to a child who has a chronic disease such as ... -
Trials Data Predict PTC-AADC Gene Therapy to Result in Long-term Benefits
PTC Therapeutics’ investigational gene therapy PTC-AADC is expected to result in long-term and durable therapeutic benefits ... -
Scientists Discover 4 Potential Protein Biomarkers for AADC, Other Disorders
Scientists discovered four potential protein biomarkers — apolipoprotein D, apolipoprotein H, oligodendrocyte myelin glycoprotein, and ... -
Medical Alert Cards for AADC Deficiency
Aromatic l-amino acid decarboxylase (AADC) deficiency can cause sudden cardiac issues, oculogyric crises, and problems with breathing ... -
My Child Needs a Lumbar Puncture, Now What?
If doctors suspect your child might have aromatic l-amino acid decarboxylase (AADC) deficiency, they may ... -
Gene Therapy for AADC Deficiency Given Boost by NIH Grant
The development of new gene therapy to treat people with aromatic L-amino acid decarboxylase (AADC) ... -
Feeding Tubes for AADC Deficiency
Nursing and swallowing can be difficult for children with aromatic l-amino acid decarboxylase (AADC) deficiency, and ... -
Prevalence of AADC Deficiency
Researchers don’t know the exact prevalence (how common a disease is among a population) of ... -
AADC Deficiency Awareness Day Event Taking Place Oct. 23 on Facebook Live
Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a ... -
My Child Has Been Diagnosed With AADC Deficiency, Now What?
As a parent, finding out that your child has a rare genetic disorder like aromatic L-amino ... -
Family Help for AADC Deficiency
Taking care of a child with aromatic l-amino acid decarboxylase (AADC) deficiency can be overwhelming ... -
Common Misdiagnoses of AADC Deficiency
Only about 100 cases of aromatic l-amino acid decarboxylase (AADC) deficiency are reported in scientific literature globally. ... -
Raising Awareness of AADC Deficiency
Having a child with is a rare genetic disorder like aromatic L-amino acid decarboxylase (AADC) ... -
PTC, Invitae Launch Free Genetic Testing to Improve AADC, Other Diagnoses
PTC Therapeutics and Invitae have partnered to launch a free genetic testing program that helps ... -
Mood Disorders in AADC Deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that involves a decrease ... -
Seizure Monitors for AADC Deficiency
People with aromatic l-amino acid decarboxylase (AADC) deficiency, whose symptoms usually begin during infancy, sometimes experience ... -
Seizure Diaries for AADC Deficiency
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that causes communication problems ... -
All You Need to Know About Vitamin B6 and AADC Deficiency
Doctors often recommend vitamin B6 (pyridoxine) as a treatment for aromatic L-amino acid decarboxylase (AADC) ... -
How to Prepare for a Lumbar Puncture in AADC Deficiency
If your child’s doctor suspects aromatic L-amino acid decarboxylase (AADC) deficiency, they may recommend a lumbar ... -
Oculogyric Crises in AADC Deficiency
One of the symptoms of aromatic L‐amino acid decarboxylase (AADC) deficiency are oculogyric crises, which ... -
Urine Test May Help Diagnose AADC Deficiency, Study Says
A simple urine test using widely available methods may help diagnose people with aromatic L-amino ... -
Vaccines and AADC Deficiency
Parents or caregivers of children with aromatic L-amino acid decarboxylase (AADC) deficiency may be wondering ... -
About the AADC Diagnostic Testing Program
There are only about 100 reported cases of aromatic l-amino acid decarboxylase (AADC) deficiency globally. That’s partly ... -
AADC Community Invited to Submit Works to 2020 Rare Artist Contest
To raise awareness of the rare disease community and celebrate the creativity of its members, ... -
Traveling Safely With a Child Who Has AADC Deficiency
Advanced planning is important when traveling with a child who has aromatic l-amino acid decarboxylase (AADC) ... -
Non-invasive Urine Test May Help in AADC Deficiency Diagnosis, Case Report Says
A case study of a 3-month-old patient provided evidence to support the use of a ... -
Genetic Counseling for Families Affected by AADC Deficiency
If you or a family member has a genetic disease like aromatic L-amino acid decarboxylase (AADC) ... -
What Is Genetic Testing and How Can It Help Diagnose AADC Deficiency?
Genetic testing looks for changes in the genome — an organism’s complete set of DNA ... -
Reproductive Options for AADC Deficiency Carriers
If you know you are a carrier for aromatic L-amino acid decarboxylase (AADC) deficiency, you may ... -
Will Another Child of Mine Have AADC Deficiency?
If you have a child with aromatic L-amino acid decarboxylase (AADC) deficiency, you may be ... -
4 Cerebrospinal Fluid Biomarkers May Aid Diagnosis, Study Says
Four biomarkers of aromatic l-amino acid decarboxylase (AADC) deficiency have been identified in the cerebrospinal ... -
What is the iNTD and Its Patient Registry?
If your child has aromatic l-amino acid decarboxylase (AADC) deficiency, you may want to consider ... -
Newborn Screening and AADC Deficiency
Newborn screening for aromatic L-amino acid decarboxylase (AADC) deficiency has been studied, but has not ... -
Study Characterizes Largest Group of AADC Deficiency Patients in Mainland China
The genetic variant that most commonly causes aromatic l-amino acid decarboxylase (AADC) deficiency seems to result ... -
Clinical Trials and AADC Deficiency
There have been only about 100 cases of aromatic L-amino acid decarboxylase (AADC) deficiency described ... -
AADC Patients Experience Severe Symptoms from Infancy to Adulthood, Study Reveals
Most patients with aromatic l-amino acid decarboxylase (AADC) deficiency experience a combination of severe motor symptoms and ... -
Anesthesia and AADC Deficiency
Medical procedures and tests sometimes require anesthesia, which can be especially challenging for patients with ... -
What’s a Dystonic Crisis with AADC Deficiency, and How to Deal With It?
Aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare disorder that affects the nervous ... -
PTC Therapeutics to Seek FDA Approval of AADC Gene Therapy
PTC Therapeutics is planning to request U.S. Food and Drug Administration (FDA) approval of PTC-AADC, its investigational gene ... -
Medications to Avoid in AADC Deficiency
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disease that affects the nervous ... -
AADC Activity Can Be Assessed with High Resolution FMT-PET, Study Shows
Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC) can be assessed through ... -
What Equipment Will my Child with AADC Deficiency Need?
Children with aromatic l-amino acid decarboxylase (AADC) deficiency may require the help of aids and other ... -
New Method May Help Diagnose AADC Deficiency, Other Genetic Disorders of Metabolism
Measuring multiple metabolites at once in a single drop of cerebrospinal fluid (CSF) may hasten ... -
Mindfulness for Those Caring for a Patient With AADC Deficiency
Providing constant care and supervision for a child with aromatic l-amino acid decarboxylase (AADC) deficiency ... -
Spoon Theory for AADC Deficiency Caregivers
Caring for a loved one with a chronic illness such as aromatic l-amino acid decarboxylase ... -
Importance of Support Networks for People Affected by AADC Deficiency
A good support network is important for maintaining your physical and psychological health. Positive support ... -
AADC Deficiency May Be ‘Common’ in Neurological Problems of Unknown Origin
Although an ultra rare condition, aromatic L-amino acid decarboxylase (AADC) deficiency appears to be more common among ... -
Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds
The number of treatments for children with rare diseases has grown over the past decade, according ... -
Video: BioNews’ Social Media Campaign Highlights #WhatMakesMeRare
In recognition of Rare Disease Day Feb. 29, BioNews Services launched a social media campaign ... -
Sleeping Tips for Children With AADC Deficiency
Caring for a child with aromatic L-amino acid decarboxylase (AADC) deficiency comes with many challenges. ... -
2 New DDC Gene Mutations, Identified in African American Siblings, Described in Case Report
Two previously unknown gene mutations that cause aromatic L-amino acid decarboxylase (AADC) deficiency have been ... -
Aquatic Therapy for Children with AADC Deficiency
Children with aromatic L-amino acid decarboxylase (AADC) deficiency generally have muscle weakness, uncontrollable movements, and ... -
With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in ...