Gene therapy for aromatic L-amino acid decarboxylase deficiency

Sci Transl Med. 2012 May 16;4(134):134ra61. doi: 10.1126/scitranslmed.3003640.

Abstract

Aromatic L-amino acid decarboxylase (AADC) is required for the synthesis of the neurotransmitters dopamine and serotonin. Children with defects in the AADC gene show compromised development, particularly in motor function. Drug therapy has only marginal effects on some of the symptoms and does not change early childhood mortality. Here, we performed adeno-associated viral vector-mediated gene transfer of the human AADC gene bilaterally into the putamen of four patients 4 to 6 years of age. All of the patients showed improvements in motor performance: One patient was able to stand 16 months after gene transfer, and the other three patients achieved supported sitting 6 to 15 months after gene transfer. Choreic dyskinesia was observed in all patients, but this resolved after several months. Positron emission tomography revealed increased uptake by the putamen of 6-[(18)F]fluorodopa, a tracer for AADC. Cerebrospinal fluid analysis showed increased dopamine and serotonin levels after gene transfer. Thus, gene therapy targeting primary AADC deficiency is well tolerated and leads to improved motor function.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / cerebrospinal fluid
  • Amino Acid Metabolism, Inborn Errors / physiopathology
  • Amino Acid Metabolism, Inborn Errors / surgery
  • Amino Acid Metabolism, Inborn Errors / therapy*
  • Antibodies / immunology
  • Aromatic-L-Amino-Acid Decarboxylases / cerebrospinal fluid
  • Aromatic-L-Amino-Acid Decarboxylases / deficiency
  • Aromatic-L-Amino-Acid Decarboxylases / genetics*
  • Aromatic-L-Amino-Acid Decarboxylases / therapeutic use*
  • Child
  • Child, Preschool
  • Demography
  • Dependovirus / genetics
  • Dihydroxyphenylalanine / analogs & derivatives
  • Female
  • Gene Transfer Techniques
  • Genetic Therapy* / adverse effects
  • Genetic Vectors / genetics
  • Humans
  • Male
  • Motor Activity
  • Neurotransmitter Agents / cerebrospinal fluid
  • Positron-Emission Tomography
  • Taiwan

Substances

  • Antibodies
  • Neurotransmitter Agents
  • fluorodopa F 18
  • Dihydroxyphenylalanine
  • Aromatic-L-Amino-Acid Decarboxylases

Supplementary concepts

  • Aromatic amino acid decarboxylase deficiency