Table 2

Ongoing viral gene therapy clinical trials for neurological disorders

ConditionVectorAdministration routeAge of target populationStudy phaseGenetic strategy: Gene
Neurometabolic conditions
OTC deficiencyAAVIVAdultsI/IIAddition: OTC gene
AACD deficiencyAAVIPInfants, childrenIIAddition: AADC gene
MPS type 1AAVIVChildren, adolescents, adultsI/IIGene editing: insertion of IDUA gene
MPS type II (Hunters syndrome)AAVIT/IVInfants, children, adultsI/IIAddition: I2S gene (cross correction affected cells)
Gene editing: insertion of IDS gene
MPS type III (Sanfilippo disease)AAVIV/IPInfants and childrenI/II/IIIAddition: SGSH gene ± SUMF1
MPS type VIAAVIVChildren, adolescents, adultsI/IIAddition: ARSB gene
Fabry diseaseAAVIVAdultsI/IIAddition: GLA gene
Pompe diseaseAAVIV/IMChildren, adolescents, adultsIAddition: GAA gene
GSD type IIbAAVIVChildren, adolescents, adultsIAddition: LAMP2B gene
GM1 gangliosidosis type IIAAVIVChildrenI/IIAddition: GLB1 gene
Gaucher’s diseaseRetroviralIVInfants, children, adolescents, adultsIAddition: glucocerebrosidase gene, ex vivo
Diseases of the white matter
MLDLentivirus/AAVIV/IPChildrenI/IIAddition: ARSA gene, in vivo and ex vivo
ALDLentivirusIVChildren, adolescentsIIIAddition: adrenoleukodystrophy gene, ex vivo
Peripheral neuropathies
SMAAAVIVNewborns, infants, childrenIIIAddition: SMN1 gene
GANAAVITChildren, adolescents, adultsIAddition e: GAN gene
CMT1AAVIMAdolescents, adultsI/IIAddition: NFT3 gene*
Painful diabetic neuropathyHerpes virusSCAdultsIAddition GAD67 gene
Muscular dystrophies and myopathies
LGMD 2EAAVIVChildren, adolescentsI/IIAddition: SGCB gene
LGMD 2DAAVIMChildren, adolescents, adultsIAddition: a sarcoglycan gene
LGMD 2CAAVIMAdolescents, adultsIAddition: y sarcoglycan gene
X linked myotubular myopathyAAVIVInfants and young childrenI/IIAddition: hMTM1 gene
adolescents, adults IBM
Replace: follistatin gene
DMDAAVIV/IMChildren, adolescentsI/IIAddition: GALG2/mini or micro dystrophin/ follistatin genes
Neurodegenerative (central nervous system) and movement disorders
HDAAVIPAdultsI/IISilence: mHTT gene
ADAAVIT/IV, IPAdultsIAddition: APOE2,
NGF, hTERT genes*
NCLAAVIP/ITInfant, child, adolescentsI/IIAddition: CLN2/CLN3/CLN6 genes
ALSLentivirus/AAVITAdultsI/IIAddition GNDF gene, ex vivo and SOD1 gene in vivo*
Neuroinflammatory diseases of the central nervous system
MSRetrovirusSCAdultsI/IIAddition: MBP gene
NMORetrovirusIVAdolescents and adultsIAddition: CD19+ and CD20+ chimeric receptor, ex vivo
  • Search strategy and selection criteria: Data for this table were identified by searches of publicly available clinical trial databases available in English that allowed systematic identification of gene therapy trials (5 February 2020); Australia and New Zealand Clinical Trials Registry (, European Union Clinical Trials Register (, United Kingdom National Institute for Health Research (, United States National Library of Medicine at the NIH ( and Gene Therapy Clinical Trials Worldwide (

  • *Neurotrophic growth factor.

  • †Neuropeptide.

  • .AACD, aromatic L-amino acid decarboxylase deficiency; AAV, adeno-associated virus; AD, Alzheimer’s disease; Adolescents, 11–19 years age; Adults, >20 years age; ALD, adrenoleukodystrophy; ALS, amyotrophic lateral sclerosis; BMD, Becker’s muscular dystrophy; Children, 1–10 years age; CMT1, Charcot Marie Tooth type 1; DMD, Duchenne muscular dystrophy; GAN, giant axonal neuropathy; GSD, glycogen storage disease; HD, Huntington’s disease; IM, intramuscular; Infants, 1–12 months age; IP, intraparenchymal; IT, intrathecal/intracisternal; IV, intravenous; LGMD, limb girdle muscular dystrophy; MLD, metachromatic leukodystrophy; MPS, mucopolysaccharidosis; MS, multiple sclerosis; NCL, neuronal ceroid lipofuscinosis; Newborns, ≤1 month age; NMO, neuromyelitis optica; OTC, ornithine transcarbamylase; PD, idiopathic Parkinson’s disease; SC, subcutaneous; SMA, spinal muscular atrophy.