Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

What is AADC Deficiency?
Aromatic l-amino acid decarboxylase (AADC) deficiency is a disease that affects the production of signals that allow cells in the nervous system to communicate with each other. This often leads to trouble with physical movement, controlling blood pressure, heart rate, and body temperature. More information about AADC Deficiency may be found on the NIH’s website: rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency

What is the prevalence of AADC Deficiency?
The estimated prevalence of AADC Deficiency is about 150 patients worldwide.

How is AADC Deficiency diagnosed?
Diagnosis of AADC Deficiency may be made by conducting a spinal tap and a blood test. Genetic testing may be used to confirm the diagnosis.

Is there any specific gene/pathway in AADC Deficiency that has been identified?
AADC deficiency is caused by mutations in the DDC gene.

How is AADC Deficiency treated?
Although there is currently no cure for AADC deficiency, numerous medications can help manage the symptoms. Each patient needs a personalized approach to a medication regimen and should be followed by a pediatric neurologist and potentially other physicians to assist in trials of medications. More information on treatment may be found here: rarediseases.org/rare-diseases/aromatic-l-amino-acid-decarboxylase-deficiency

Are there any clinical trials underway for AADC Deficiency?
The National Institutes of Health (NIH) has completed 7 clinical trials for AADC Deficiency. Currently, there are 8 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: clinicaltrials.gov

How can RareShare be helpful to AADC Deficiency patients and families?
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