B-421a-006 is a 24-month, double-masked, randomized, sham-controlled, multicenter study to evaluate the safety, tolerability, and efficacy of ultevursen in subjects with RP due to mutations in exon 13 of the USH2A gene.
Kimberly Stepien
A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study.
PubMed ID: 38311152 Author(s): Maclaren RE, Lam BL, Fischer MD, Holz FG, Pennesi ME, Birch DG, Sankila EM, Meunier IA, Stepien KE, Sallum JMF, Li J, Yoon D, Panda S, Gow JA; NIGHT Study Group. …
POLARIS
An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (POLARIS)
NAC Attack
NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double-Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients with Retinitis Pigmentosa.
UNI-RARE
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants.
UNI-RARE
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants
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).