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47 Studies found from all possible combinations of your search terms. Select a protocol that you wish to review.
Protocol Number Title Protocol Status Min-Max Age Institute Keywords
001180-CCA Phase I/II Trial Evaluating Long-Term Use of a Pediatric Robotic Exoskeleton (P.REX/Agilik) to Improve Gait in Children with Movement DisordersParticipants currently recruited/enrolled3-17 YearsCC Muscular Dystrophy
000625-NInvestigational use of Neuromuscular UltrasoundParticipants currently recruited/enrolled18-110 YearsNINDSMuscular Dystrophy
13-CH-0112Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients with a Fragile Sarcolemmal Muscular DystrophyNo longer recruiting/follow-up only18-125 YearsNICHDMuscular Dystrophy
13-CC-0210Evaluating an Extension Assist Knee Ankle Foot Orthosis to Improve Gait in Children with Movement DisordersParticipants currently recruited/enrolled5-125 YearsCC Muscular Dystrophy
12-N-0095Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of ChildhoodParticipants currently recruited/enrolled0-125 YearsNINDSMuscular Dystrophy
00-N-0043Clinical and Molecular Manifestations of Inherited Neurological DisordersParticipants currently recruited/enrolled2-120 YearsNINDSMuscular Dystrophy
001854-IAn Open-Label Study of Zemaira (Alpha 1-Trypsin Inhibitor) in Subjects with Eosinophilic EsophagitisRecruitment has not started18-70 YearsNIAIDMuscular
001737-NRA Single-Center Prospective Natural History Study of RYR1-Related DisordersRecruitment has not started7-100 YearsNINR Congenital
001625-HGProspective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersParticipants currently recruited/enrolled0-100 YearsNHGRICongenital
001505-NA Phase 1/2a, Randomized, Double-Blind, Placebo-Controlled, First In-Patient Study of AJ201 to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics in Adults With Spinal and Bulbar Muscular Atrophy (SBMA)Participants currently recruited/enrolled18-120 YearsNINDSMuscular
000861-IA Phase 2 Open-Label Study to Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia AreataParticipants currently recruited/enrolled12-65 YearsNIAIDDystrophy
000740-CHA Phase 3 Open-label Extension Study to Evaluate the Long-term Safety and Tolerability of Chronocort in the Treatment of Participants Aged 16 Years and Over with Congenital Adrenal HyperplasiaEnrolling by Invitation18-99 YearsNICHDCongenital
000494-DKNatural History of Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity AssessmentParticipants currently recruited/enrolled18-100 YearsNIDDKCongenital
000428-NAn Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)Participants currently recruited/enrolled18-120 YearsNINDSMuscular
000411-CCA Feasibility Pilot Study of a Virtual Education-Based Transition Intervention to Improve Transition Readiness in Adolescent and Young Adults with Congenital Adrenal Hyperplasia.Participants currently recruited/enrolled16-22 YearsCC Congenital
000310-CHA Phase 1/2, First-in-Human, Open-Label, Dose-Escalation Study of the Safety and Efficacy of Gene Therapy for Congenital Adrenal Hyperplasia through Administration of an Adeno-Associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human Participants currently recruited/enrolled18-99 YearsNICHDCongenital
000297-CHA Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects with Classic Congenital Adrenal Hyperplasia, Followed by Open-Label TreatmentNo longer recruiting/follow-up only18-99 YearsNICHDCongenital
000236-IA Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 DeficiencyParticipants currently recruited/enrolled18-85 YearsNIAIDCongenital
000108-EIAn Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4Participants currently recruited/enrolled10-100 YearsNEI Dystrophy
20-EI-0163Oral Metformin for Treatment of ABCA4 RetinopathyParticipants currently recruited/enrolled12-100 YearsNEI Dystrophy
20-CH-0126Data Collection Study of Pediatric and Adolescent Gynecology ConditionsParticipants currently recruited/enrolled0-125 YearsNICHDCongenital
20-C-0070A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients with Inborn Errors of ImmunityParticipants currently recruited/enrolled4-69 YearsNCI Congenital
19-CH-0020A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children with Classic 21-Hydroxylase DeficiencyParticipants currently recruited/enrolled2-9 YearsNICHDCongenital
19-C-0085Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Peripheral T cell LymphomaParticipants currently recruited/enrolled12-120 YearsNCI Congenital
18-N-0083ASPIRO: A Phase 1/2/3, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) PatientsNo longer recruiting/follow-up only3-5 YearsNINDSMuscular
18-H-0118Technical and Translational Development of Cardiovascular MRI (CMR)Participants currently recruited/enrolled7-100 YearsNHLBICongenital
18-C-0135Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or DysregulationParticipants currently recruited/enrolled4-125 YearsNCI Congenital
17-H-0095Heart Catheterization Using Magnetic Resonance Imaging (MRI) Fluoroscopy and Passive GuidewiresParticipants currently recruited/enrolled18-125 YearsNHLBICongenital
16-CH-0164A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort (Registered) in the Treatment of Congenital Adrenal HyperplasiaCompleted Study; data analyses ongoing18-80 YearsNICHDCongenital
16-C-0003Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary ImmunodeficienciesParticipants currently recruited/enrolled4-75 YearsNCI Congenital
15-DK-0108Natural History of Noncirrhotic Portal HypertensionParticipants currently recruited/enrolled12-100 YearsNIDDKCongenital
14-HG-0071Clinical and Basic Investigations into Known and Suspected Congenital Disorders of GlycosylationParticipants currently recruited/enrolled1-80 YearsNHGRICongenital
14-HG-0055Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersCompleted Study; data analyses ongoing2-80 YearsNHGRICongenital
14-EI-0064Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsParticipants currently recruited/enrolled0-120 YearsNEI Congenital
11-I-0187The Natural History and Pathogenesis of Human Fungal InfectionsParticipants currently recruited/enrolled0-99 YearsNIAIDDystrophy
11-EI-0245Generation of Induced Pluripotent Stem (iPS) Cell Lines from Somatic Cells of Participants with Eye Diseases and from Somatic Cells of Matched ControlsParticipants currently recruited/enrolled0-120 YearsNEI Dystrophy
10-HG-0065Whole Genome Medical Sequencing for Gene DiscoveryParticipants currently recruited/enrolled0-99 YearsNHGRICongenital
09-H-0225Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease and Beta-ThalassemiaNo longer recruiting/follow-up only2-100 YearsNHLBICongenital
08-C-0130A Phase II Trial of Peginterferon alfa-2b (PEG-Intron) for Neurofibromatosis Type 1 Related Unresectable, Symptomatic or Life-Threatening Plexiform NeurofibromasCompleted Study; data analyses ongoing0-21 YearsNCI Congenital
06-EI-0236National Ophthalmic Genotyping and Phenotyping Network Stage 1 - Creation of DNA Repository for Inherited Ophthalmic DiseasesNo longer recruiting/follow-up only0-100 YearsNEI Dystrophy
06-CH-0011Natural History Study of Patients with Excess AndrogenParticipants currently recruited/enrolled0-99 YearsNICHDCongenital
03-H-0170Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease (SCD) and B-ThalassemiaNo longer recruiting/follow-up only2-80 YearsNHLBICongenital
02-C-0052Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History StudyParticipants currently recruited/enrolled0-125 YearsNCI Congenital
96-CH-0033An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children with Congenital Adrenal HyperplasiaNo longer recruiting/follow-up only2-18 YearsNICHDCongenital
94-HG-0132The Phenotype and Etiology of Proteus SyndromeParticipants currently recruited/enrolled0-99 YearsNHGRICongenital
94-HG-0105An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory DiseasesParticipants currently recruited/enrolled0-115 YearsNHGRIDystrophy
89-M-0006Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy VolunteersParticipants currently recruited/enrolled3-125 YearsNIMH Congenital