Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants
Kimberly Stepien
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
PubMed ID: 34111268 Author(s): Litts KM, Woertz EN, Wynne N, Brooks BP, Chacon A, Connor TB Jr, Costakos D, Dumitrescu A, Drack AV, Fishman GA, Hauswirth WW, Kay CN, Lam BL, Michaelides M, Pennesi ME, …
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
PubMed ID: 32235217 Author(s): Kellom ER, Wolf B, Rice GM, Stepien KE. Reversal of vision loss in a 49-year-old man with progressive optic atrophy due to profound biotinidase deficiency. J Neuroophthalmol. 2021 Mar 1;41(1):e27-e30. doi: …
XOLARIS
To gain a better understanding of disease progression over time in male subjects with X-linked retinitis pigmentosa (XLRP).
CHM SURVEY TRIAL
Choroideremia (CHM) Health Outcomes
Pro-EYS
Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS).
AGTC A3
A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC 402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3, in Patients with Congenital Achromatopsia Caused by Mutations in the CNGA3 Gene
AGTC B3
A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing CNGB3 (rAAV2tYF-PR1.7-hCNGB3) in Patients with Congenital Achromatopsia Caused by Mutations in the CNGB3 Gene
NIGHT
Natural History of the Progression of Choroideremia Study (NIGHT)