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Eladocagene exuparvovec is indicated for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. [3]Aromatic L-amino acid decarboxylase deficiency is a rare genetic disorder that affects the production of some neurotransmitters, which are chemical messengers that allow cells in the body's nervous system to communicate with each other. [4]
Aromatic L-amino acid decarboxylase deficiency has an autosomal recessive pattern of inheritance. Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive condition, meaning an individual needs to have two faulty copies of the DDC gene in order to be affected. Usually, one copy is inherited from each parent. [3]
Aromatic L-amino acid decarboxylase deficiency is associated with various symptoms as severe developmental delay, oculogyric crises and autonomic dysfunction. The molecular and clinical spectrum of AAAC deficiency is heterogeneous. The first case of AADC deficiency was described in twin brothers 1990.
An aromatic L-amino acid decarboxylase inhibitor (synonyms: DOPA decarboxylase inhibitor, extracerebral decarboxylase inhibitor, DDCI and AAADI) is a medication of type enzyme inhibitor which inhibits the synthesis of dopamine by the enzyme aromatic L-amino acid decarboxylase (AADC, AAAD, or DOPA decarboxylase).
In 2018, PTC acquired Agilis Biotherapeutics and a gene therapy candidate, GT-AADC, with its compelling clinical data in treating aromatic L-amino acid decarboxylase (AADC) deficiency. [9] AADC deficiency is a rare CNS disorder arising from reductions in the enzyme AADC that result from mutations in the dopa decarboxylase (DDC) gene.
In July results of a small gene therapy phase I study was published reporting observation of dopamine restoration on seven patients between 4 and 9 years old affected by aromatic L-amino acid decarboxylase deficiency (AADC deficiency). [288] [289] [290]
The S-enantiomer of methyldopa is a competitive inhibitor of the enzyme aromatic L-amino acid decarboxylase (LAAD), which converts L-DOPA into dopamine. L -DOPA can cross the blood brain barrier and thus methyldopa may have similar effects.
Once levodopa has entered the central nervous system, it is converted into dopamine by the enzyme aromatic l-amino acid decarboxylase (AAAD), also known as DOPA decarboxylase (DDC). Pyridoxal phosphate (vitamin B 6) is a required cofactor in this reaction, and may occasionally be administered along with levodopa, usually in the form of pyridoxine.
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