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Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3

• Authors : Syne Qua Non Limited; EMAS Pharma

• Source: Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3 and

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Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia (Colourbridge)

• Authors : University Hospital Tuebingen; Ludwig-Maximilians - University of Munich

• Source: Safety and Efficacy of a Bilateral Single Subretinal Injection of rAAV.hCNGA3 in Adult and Minor Patients With CNGA3-linked Achromatopsia Investigated in a Randomized,

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Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

• Authors : Zahra Nouri; Akram Sarmadi; Sina Narrei

Subjects: Hearing loss; Cone dystrophy; Achromatopsia

• Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

• Authors : Solaki, Maria; Baumann, Britta; Reuter, Peggy

Subjects: achromatopsia; CNGA3; cyclic nucleotide-gated ion channel

• Source: Human Mutation. 43(7):832-858

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Natural History Study for Achromatopsia

• Source: Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials

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Gene Therapy for Achromatopsia (CNGB3) (CNGB3)

• Authors : Janssen Research & Development, LLC

• Source: An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3) for Gene Therapy of Adults and Children With

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Gene Therapy for Achromatopsia (CNGA3) (CNGA3)

• Authors : Janssen Research & Development, LLC

• Source: An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Children and Adults With

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Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia (A Clarity Clinical Trial)

• Source: Banin E, Gootwine E, Obolensky A, Ezra-Elia R, Ejzenberg A, Zelinger L, Honig H, Rosov A, Yamin E, Sharon D, Averbukh E, Hauswirth WW, Ofri R. Gene Augmentation Therapy Restores Retinal Function and

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Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia (A Clarity Clinical Trial)

• Authors : National Eye Institute (NEI)

• Source: Komaromy AM, Alexander JJ, Rowlan JS, Garcia MM, Chiodo VA, Kaya A, Tanaka JC, Acland GM, Hauswirth WW, Aguirre GD. Gene therapy rescues cone function in congenital

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A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

• Authors : Akiko Suga; Kei Mizobuchi; Taiga Inooka

Subjects: Achromatopsia; Genome sequencing; RPGRIP1

• Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101843- (2024)

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