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Page 1
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular myopathy [XLMTM]; and diseases of the central nervous system, including Alzheimer's disease, Parkinson's disease, Canavan disease, aromatic l- …
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular my …
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabol …
AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.
Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J. Kang L, et al. J Control Release. 2023 Mar;355:458-473. doi: 10.1016/j.jconrel.2023.01.067. Epub 2023 Feb 13. J Control Release. 2023. PMID: 36736907 Free article. Review.
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic l-amino acid decarboxylase deficiency, Luxturna for hereditary retinal dystrophy, and Zolgensma for spinal …
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic …
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency.
Tai CH, Lee NC, Chien YH, Byrne BJ, Muramatsu SI, Tseng SH, Hwu WL. Tai CH, et al. Mol Ther. 2022 Feb 2;30(2):509-518. doi: 10.1016/j.ymthe.2021.11.005. Epub 2021 Nov 8. Mol Ther. 2022. PMID: 34763085 Free PMC article.
Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels and severe motor dysfunction. ...These observations suggest that eladocagene exuparvovec treatment for aromatic L-amino ac …
Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter levels and se …
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
Rizzi S, Spagnoli C, Frattini D, Pisani F, Fusco C. Rizzi S, et al. Behav Neurol. 2022 Oct 11;2022:2210555. doi: 10.1155/2022/2210555. eCollection 2022. Behav Neurol. 2022. PMID: 36268467 Free PMC article. Review.
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. ...By analysing 261 patients from 41 papers with …
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pa …
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
Lee NC, Chien YH, Hwu WL. Lee NC, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):226-229. doi: 10.1002/ajmg.c.31670. Epub 2019 Jan 7. Am J Med Genet C Semin Med Genet. 2019. PMID: 30614627 Review.
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in South East Asia. ...
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in So …
Eladocagene Exuparvovec: First Approval.
Keam SJ. Keam SJ. Drugs. 2022 Sep;82(13):1427-1432. doi: 10.1007/s40265-022-01775-3. Drugs. 2022. PMID: 36103022 Review.
Eladocagene exuparvovec was approved in July 2022 in the EU for the treatment of patients aged 18 months and older with a clinical, molecular, and genetically confirmed diagnosis of AADC deficiency with a severe phenotype (i.e. patients who cannot sit, stand or walk …
Eladocagene exuparvovec was approved in July 2022 in the EU for the treatment of patients aged 18 months and older with a clinical, molecula …
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus.
Fusco C, Leuzzi V, Striano P, Battini R, Burlina A; Delphi panel experts’ group; Spagnoli C. Fusco C, et al. Ital J Pediatr. 2021 Jan 21;47(1):13. doi: 10.1186/s13052-021-00954-4. Ital J Pediatr. 2021. PMID: 33478565 Free PMC article.
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. ...Additionally, ba …
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulti …
Adeno-associated viruses for gene therapy - clinical implications and liver-related complications, a guide for hepatologists.
Mücke MM, Fong S, Foster GR, Lillicrap D, Miesbach W, Zeuzem S. Mücke MM, et al. J Hepatol. 2024 Feb;80(2):352-361. doi: 10.1016/j.jhep.2023.10.029. Epub 2023 Oct 27. J Hepatol. 2024. PMID: 37890721 Free article. Review.
Several AAV-based therapeutics have received regulatory approval in the last few years including those for retinal disease, spinal muscular atrophy or aromatic L-amino acid decarboxylase deficiency. Lately, with the introduction of novel …
Several AAV-based therapeutics have received regulatory approval in the last few years including those for retinal disease, spinal muscular …
101 results