rAAV5-hCNGB3 Gene Therapy for Achromatopsia: Efficacy in a Dog Model

Award Information
Agency:
Department of Health and Human Services
Branch
n/a
Amount:
$143,082.00
Award Year:
2010
Program:
SBIR
Phase:
Phase I
Contract:
1R43EY020069-01
Award Id:
96144
Agency Tracking Number:
EY020069
Solicitation Year:
n/a
Solicitation Topic Code:
NEI
Solicitation Number:
n/a
Small Business Information
APPLIED GENETIC TECHNOLOGIES CRP, 11801 RESEARCH DR, SUITE D, ALACHUA, FL, 32615
Hubzone Owned:
N
Minority Owned:
N
Woman Owned:
N
Duns:
098244655
Principal Investigator:
JEFFREY CHULAY
(386) 462-2204
JCHULAY@AGTC.COM
Business Contact:
JEFFREY CHULAY
() -
jchulay@agtc.com
Research Institution:
n/a
Abstract
DESCRIPTION (provided by applicant): Complete achromatopsia is an inherited retinal disorder characterized by severely reduced visual acuity, nystagmus, severe photophobia, a small central scotoma, eccentric fixation, and complete loss of color discrimina tion. In 50% of patients with achromatopsia the disease is caused by mutations in the cyclic nucleotide gated channel beta subunit (CNGB3) gene. Preliminary studies indicate that gene therapy using a recombinant adeno-associated virus serotype 5 (rAAV5) ve ctor expressing a human CNGB3 gene can restore cone photoreceptor function in a dog model of achromatopsia caused by mutations in the CNGB3 gene. The objectives of the studies proposed in this application are to confirm and extend these findings using a rA AV5-CNGB3 vector produced using a commercially relevant manufacturing method. This will be accomplished by producing and purifying a rAAV5-hCNGB3 vector and evaluating the safety and efficacy of subretinal administration of a range of vector concentrations (1 x 1010, 1 x 1011, and 1 x 1012 vg/mL) of the rAAV5-CNGB3 vector in a dog model of achromatopsia caused by mutations in the CNGB3 gene. Results of these studies will be important for future advanced development of rAAV-CNGB3 gene therapy for evaluation in patients with CNGB3-related achromatopsia. PUBLIC HEALTH RELEVANCE: Complete achromatopsia is an inherited retinal disease characterized by severely reduced visual acuity and complete loss of color discrimination. In 50% of patients, the disease is caused by mutations in the CNGB3 gene. No treatment for achromatopsia is currently available. This project will evaluate a novel, CNGB3 gene therapy product for treatment of achromatopsia in a dog model.

* information listed above is at the time of submission.

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