grant
Research Project 1
Organization HUGO W. MOSER RES INST KENNEDY KRIEGERLocation BALTIMORE, UNITED STATESPosted 15 Sept 2025Deadline 31 Aug 2030
NIHUS FederalResearch GrantFY2025AcousticsAdaptive BehaviorsAgeAmentiaAnatomic SitesAnatomic structuresAnatomyBatten DiseaseBatten-Mayou DiseaseBatten-Spielmeyer-Vogt DiseaseBlindnessCLN1CLN1 geneCLN1 proteinCLN2CLN2 geneCLN2 proteinCLN3CLN3 geneCLN3 proteinCLN6CLN6 geneCLN6 proteinCare GiversCaregiversCausalityChildhoodClinicClinicalClinical ResearchClinical StudyClinical TrialsClinical Trials DesignCognitiveCollaborationsCommunicationComputer softwareConsensusDNA TherapyDataData CollectionDementiaDevelopmentDiagnosisDiagnostic FindingsDiseaseDisease ProgressionDisorderDyskinesia SyndromesEnrollmentEpilepsyEpileptic SeizuresEpilepticsEtiologyEventFamilyFocus GroupsFood and Drug AdministrationFoundationsFutureGaitGene Transfer ClinicalGeneticGenetic InterventionGenetic PredispositionGenetic Predisposition to DiseaseGenetic SusceptibilityGenetic propensityHereditaryHigh PrevalenceHomeIndividualInfrastructureInheritedInherited PredispositionInherited SusceptibilityInterventionJuvenile Cerebroretinal DegenerationKnowledgeLabelLanguageLifelong disabilityLinguisticLinguisticsLinkLongitudinal StudiesLysosomal Enzyme DisordersLysosomal Storage DiseasesMeasuresMedical RecordsMethodsModelingMotorMovement Disorder SyndromesMovement DisordersNatural HistoryNatural Language ProcessingNeurologicNeurologicalNeuronal Ceroid-LipofuscinosisOrphan DiseaseOutcomeOutcome MeasureParentsParticipantPatternPermanent disabilityPersonsPhasePreparednessProcessProtein Replacement TherapyProxyQualitative MethodsR-Series Research ProjectsR01 MechanismR01 ProgramRare DiseasesRare DisorderReadinessReportingResearchResearch GrantsResearch Project GrantsResearch ProjectsResearch ResourcesResourcesReview LiteratureSeizure DisorderSeveritiesSeverity of illnessSightSigns and SymptomsSiteSite VisitSoftwareSpeechSpielmeyer-Vogt DiseaseStandardizationSymptomsTechniquesTestingTherapeutic TrialsTimeTreatment outcomeUSFDAUnited StatesUnited States Food and Drug AdministrationVisionVisitadaptation behavioradaptive behavioragesbiobankbiorepositorycausationceroid lipofuscinosisclinical trial readinessdesigndesigningdevelopmentaldigitaldigital technologydisease causationdisease natural historydisease severityeffective therapyeffective treatmentenrollenzyme replacement therapyenzyme replacement treatmentepilepsiaepileptogenicfeedingfunctional lossgene repair therapygene therapygene-based therapygene-based treatmentgene-directed therapygene-targeted therapygene-targeted treatmentgenetic etiologygenetic mechanism of diseasegenetic therapygenetic vulnerabilitygenetically predisposedgenomic therapyhereditary ceroid lipofuscinosishomesimprovedimproved outcomeinborn lysosomal enzyme disorderinstrumentkinematic modelkinematicslife spanlifespanlong-term studylongitudinal outcome studieslysosomal diseaselysosomal disorderlysosome storage diseasesmeasurable outcomemulti-modal datamulti-modal datasetsmultimodal datamultimodal datasetsnatural language understandingneuropsychiatricneuropsychiatrynew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnovelnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapyorphan disorderoutcome measurementparentpatient centeredpatient orientedpediatricphenotypic datapre-clinical developmentpreclinical developmentprogramsprospectivequalitative reasoningrecruitspatial and temporalspatial temporalspatiotemporaltargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttranslational therapeuticstranslational therapytrial readinessvision lossvisual functionvisual loss
Description preview
PROJECT 1: TRIAL READINESS – PROJECT ABSTRACT
The Neuronal Ceroid Lipofuscinoses (NCLs, Batten diseases) are rare, inherited, fatal lysosomal disorders of
childhood onset. Although the thirteen NCLs each have a unique genetic etiology, they share in common a set
of severe, progressive signs and symptoms: vision loss, epilepsy, dementia, and…
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