Which Leber congenital amaurosis patients are eligible for gene therapy trials?

Journal of AAPOS

Volumn 13, Issue 5, 2009, Pages 463-465

  Drack, Arlene V ^a   Johnston, Rebecca ^a   Stone, Edwin M ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHILD; CLINICAL ARTICLE; FAMILY COUNSELING; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENE THERAPY; GENETIC ALGORITHM; GENETIC COUNSELING; GENETIC POLYMORPHISM; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROBABILITY; RETROSPECTIVE STUDY; RPE65 GENE;

ALGORITHMS; CARRIER PROTEINS; CHILD; EYE PROTEINS; FAMILY HEALTH; FEMALE; GENE THERAPY; GENOTYPE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; PATIENT SELECTION; POLYMORPHISM, GENETIC; RETROSPECTIVE STUDIES;

EID: 70349954960     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2009.08.006     Document Type: Article

References (10)

1. Stone E.M. Leber Congenital Amaurosis-A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 144 (2007) 791-811
2. University of Texas-Houston Health Science Center. RetNet: Retinal Information Network. http://www.sph.uth.tmc.edu/retnet/. Accessed July 21, 2009.
3. Perrault I., Hanein S., Gerber S., Barbet F., Dufier J.L., Munnich A., et al. Evidence of autosomal dominant Leber congenital amaurosis underlain by a CRX heterozygous null allele. J Med Genet 40 (2003) e90
4. Bowne S.J., Sullivan L.S., Mortimer S.E., Hedstrom L., Zhu J., Spellicy C.J., et al. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. Invest Ophthalmol Vis Sci 47 (2006) 34-42
5. Acland G.M., Aguirre G.D., Ray J., Zhang Q., Aleman T.S., Cideciyan A.V., et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 28 (2001) 92-95
6. Maguire A.M., Simonelli F., Pierce E.A., Pugh Jr. E.N., Mingozzi F., Bennicelli J., et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 358 (2008) 2240-2248
7. Bainbridge J.W., Smith A.J., Barker S.S., Robbie S., Henderson R., Balaggan K., et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358 (2008) 2231-2239
8. Hauswirth W., Aleman T.S., Kaushal S., Cideciyan A.V., Schwartz S.B., Wang L., et al. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther 19 (2008) 979-990
9. Stone E.M. Finding and interpreting genetic variations that are important to ophthalmologists. Trans Ophthalmol Soc 101 (2003) 437-484
10. Sohocki M.M., Bowne S.J., Sullivan L.S., Blackshaw S., Cepko C.L., Payne A.M., et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 24 (2000) 79-83