grant
Natural History of ABCA4-Related Retinopathies
Organization NATIONAL EYE INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY20250-11 years oldActive Follow-upAddressAgeAssayBioassayBiological AssayBlood PlasmaBlood SampleBlood SerumBlood specimenBuccal CavityBuccal Cavity Head and NeckCavitas OrisCell BodyCell Differentiation InductionCellsCellular biologyChildChild YouthChildren (0-21)ClinicClinicalClinical TrialsClinical geneticsConsentDNADataData AnalysesData AnalysisDeoxyribonucleic AcidDermatologic biopsyDiagnostic ImagingDimethylbiguanidineDimethylguanylguanidineDiseaseDisease ProgressionDisorderDoppler OCTDoseDrugsElectrophysiologyElectrophysiology (science)ElectroretinographyEligibilityEligibility DeterminationEnrollmentEvaluationEye ExamEye ExaminationFDA approvedFamilyFibroblastsFive-Year PlansFlecksFormulationFutureGenerationsGenotypeGoalsHistoryIRBIRBsImageIn VitroInstitutional Review BoardsInvestigationInvestigatorsMP1MeasuresMedicalMedical GeneticsMedical RecordsMedicationMetforminMolecularMonitorMouthN,N-dimethyl-imidodicarbonimidic diamideNational Institutes of HealthNatural HistoryNeural RetinaNeurophysiology / ElectrophysiologyOCT TomographyOptical Coherence TomographyOral cavityOutcomeOutcome MeasureOutcome StudyOuter pigmented layer of retinaParticipantPathogenesisPatientsPerimetryPharmaceutical PreparationsPhase 2 Clinical TrialsPhase II Clinical TrialsPhenotypePhysiologic PsychologyPhysiological PsychologyPigment cell layer of retinaPigmented layer of retinaPlasmaPlasma SerumPopulation StudyProtocolProtocol ScreeningProtocols documentationPsychophysiologicalPsychophysiologyQuestionnairesRecording of previous eventsResearchResearch PersonnelResearchersReticuloendothelial System, Serum, PlasmaRetinaRetina ProperRetinal DiseasesRetinal DisorderRetinal Pigment EpitheliumRetinal pigment epithelial cellsSafetySamplingSerumSightSkinStandardizationStructure of retinal pigment epitheliumTechniquesTherapeuticTitrationsUnited States National Institutes of HealthVisionVision TestsVisitactive followupagescell biologyclinical outcome measurescohortcutaneous biopsycutaneous stem cellsdata interpretationdepositorydermal progenitordermal stem celldisease modeldisorder modeldrug/agentefficacy testingelectrophysiologicalelectroretinogramenrollfollow upfollow-upfollowed upfollowupgene testinggene-based testinggenetic testinghigh-throughput drug screeninghistoriesiPSiPSCiPSCsimaginginduced pluripotent cellinduced pluripotent stem cellinducible pluripotent cellinducible pluripotent stem cellkidsmeasurable outcomemembrane placental tissue protein 1membrane-associated placental tissue protein 1novelopen labelopen label studyophthalmic examinationoptical Doppler tomographyoptical coherence Doppler tomographyoutcome measurementparticipant enrollmentpatient enrollmentphase II protocolphysiopsychologypopulation-based studypopulation-level studyprimary outcomepsycho-physiologicalrecruitrepositoryretina diseaseretina disorderretinopathysecondary outcomeskin biopsyskin progenitorskin stem cellstudies of populationsstudy of the populationtime usetreatment trialvisual functionyoungster
Description preview
1. ABCA4 Retinopathy Natural History Study
In the ABCA4 natural history study, participants will be followed for five years. Participants will be recruited through other pre-existing NIH protocols, such as the NEI Evaluation and Treatment Trial (08-EI-0169), the NEI Screening Protocol (08-EI-0102), and the National Ophthalmic Disease Genotyping…
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