grant
Rare & Mosaic Disorders - Clinical Research
Organization NATIONAL HUMAN GENOME RESEARCH INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY2025AgreementBiopsy SampleBiopsy SpecimenCRADACausalityClinicalClinical DataClinical EvaluationClinical ResearchClinical Research ProtocolsClinical StudyClinical TestingCollagen HamartomaCollagen NevusCollagen nevus of skinCollagenomaCompanionsConnective Tissue NevusCooperative Research and Development AgreementCoupledDataDiseaseDisorderDoseDrugsEEGElectroencephalogramElectroencephalographyElephant Man DiseaseEnrollmentEtiologyGeneralized GrowthGenesGeneticGenetic DiseasesGenetic ResearchGenotypeGerm LinesGrowthGrowth DisordersHereditaryHistoryHuman GeneticsIn VitroInheritedLaboratoriesLung Function TestsMedical InspectionMedicationMolecularMosaicismMutation DetectionNational Institutes of HealthNatural HistoryOncogenesisOncologyOncology CancerOperative ProceduresOperative Surgical ProceduresOrphan DiseaseOther GeneticsOutcome MeasureParticipantPatientsPharmaceutical PreparationsPhasePhenotypePhysical ExaminationPredispositionProcessProductivityProteus SyndromeProteus syndrome (PS)Pulmonary function testsRadiographyRare DiseasesRare DisorderRecording of previous eventsResearch ResourcesResourcesRoentgenographySafetySamplingSeveritiesShapesStructural defectStructural malformationSurgicalSurgical InterventionsSurgical ProcedureSusceptibilityTherapeuticTherapeutic StudiesTherapy ResearchTimeTissue GrowthUnited States National Institutes of HealthVariantVariationWiedemann syndrome 2Workcausationclinical centerclinical testcohortdisease causationdrug/agentefficacy studyenrollgenetic conditiongenetic disorderhistoriesimaging studymeasurable outcomemosaicmosaic diseasesmosaic disordersnew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapyontogenyorphan disorderoutcome measurementphase 2 studyphase II studyphysical examinationsprimary outcomeproteiform syndromeradiological imagingresearch clinical testingstructural abnormalitiesstructural anomaliessurgerytomographytumortumorigenesisultrasound
Description preview
Natural history studies
We operate several clinical research protocols to assess the range of severity, spectrum of Proteus syndrome. We use clinical evaluations that include history and physical examination, imaging studies including radiography, ultrasound, and tomography, as well as EEG, pulmonary function testing, etc. to characterize…
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