NIH Clinical Center: Search the Studies

Search the Studies

49 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-CC	A Phase I/II Trial Evaluating Long-Term Use of a Pediatric Robotic Exoskeleton (P.REX/Agilik) to Improve Gait in Children with Movement Disorders	Participants currently recruited/enrolled	3-17 Years	CC	Muscular Dystrophy
000625-N	Investigational use of Neuromuscular Ultrasound	Participants currently recruited/enrolled	18-110 Years	NINDS	Muscular Dystrophy
13-CH-0112	Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients with a Fragile Sarcolemmal Muscular Dystrophy	No longer recruiting/follow-up only	18-125 Years	NICHD	Muscular Dystrophy
13-CC-0210	Evaluating an Extension Assist Knee Ankle Foot Orthosis to Improve Gait in Children with Movement Disorders	Participants currently recruited/enrolled	5-125 Years	CC	Muscular Dystrophy
12-N-0095	Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood	Participants currently recruited/enrolled	0-100 Years	NINDS	Muscular Dystrophy
00-N-0043	Clinical and Molecular Manifestations of Inherited Neurological Disorders	Participants currently recruited/enrolled	2-120 Years	NINDS	Muscular Dystrophy
001854-I	An Open-Label Study of Zemaira (Alpha 1-Trypsin Inhibitor) in Subjects with Eosinophilic Esophagitis	Participants currently recruited/enrolled	18-70 Years	NIAID	Muscular
001737-NR	A Single-Center Prospective Natural History Study of RYR1-Related Disorders	Recruitment has not started	7-100 Years	NINR	Congenital
001647-EI	National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases	Participants currently recruited/enrolled	0-120 Years	NEI	Dystrophy
001625-HG	Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders	Participants currently recruited/enrolled	0-100 Years	NHGRI	Congenital
001587-C	A Phase I Dose-escalation Study of Preoperative Radiation Therapy in Participants with Resectable Recurrent Abdominal Adrenocortical Carcinoma	Recruitment has not started	18-120 Years	NCI	Dystrophy
001505-N	A 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/enrolled	18-120 Years	NINDS	Muscular
000861-I	A 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 Areata	Participants currently recruited/enrolled	12-65 Years	NIAID	Dystrophy
000740-CH	A 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 Hyperplasia	Enrolling by Invitation	18-99 Years	NICHD	Congenital
000494-DK	Natural History of Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity Assessment	Participants currently recruited/enrolled	18-100 Years	NIDDK	Congenital
000428-N	An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)	Participants currently recruited/enrolled	18-120 Years	NINDS	Muscular
000411-CC	A 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/enrolled	16-22 Years	CC	Congenital
000310-CH	A 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/enrolled	18-99 Years	NICHD	Congenital
000297-CH	A 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 Treatment	No longer recruiting/follow-up only	18-99 Years	NICHD	Congenital
000236-I	A Phase 1 Study of Empagliflozin as Treatment for Severe Congenital Neutropenia Due to G6PC3 Deficiency	Participants currently recruited/enrolled	18-85 Years	NIAID	Congenital
000108-EI	An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4	Participants currently recruited/enrolled	10-100 Years	NEI	Dystrophy
20-EI-0163	Oral Metformin for Treatment of ABCA4 Retinopathy	Participants currently recruited/enrolled	12-100 Years	NEI	Dystrophy
20-CH-0126	Data Collection Study of Pediatric and Adolescent Gynecology Conditions	Participants currently recruited/enrolled	0-100 Years	NICHD	Congenital
20-C-0070	A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Patients with Inborn Errors of Immunity	Participants currently recruited/enrolled	4-69 Years	NCI	Congenital
19-CH-0020	A 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 Deficiency	Participants currently recruited/enrolled	2-9 Years	NICHD	Congenital
19-C-0085	Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Peripheral T cell Lymphoma	Participants currently recruited/enrolled	12-120 Years	NCI	Congenital
18-N-0083	ASPIRO: 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) Patients	No longer recruiting/follow-up only	3-5 Years	NINDS	Muscular
18-H-0118	Technical and Translational Development of Cardiovascular MRI (CMR)	Participants currently recruited/enrolled	7-100 Years	NHLBI	Congenital
18-C-0135	Phase II Trial of Allogeneic Hematopoietic Cell Transplantation for Disorders of T-cell Proliferation and/or Dysregulation	Participants currently recruited/enrolled	4-125 Years	NCI	Congenital
17-H-0095	Heart Catheterization Using Magnetic Resonance Imaging (MRI) Fluoroscopy and Passive Guidewires	Participants currently recruited/enrolled	18-125 Years	NHLBI	Congenital
16-CH-0164	A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort (Registered) in the Treatment of Congenital Adrenal Hyperplasia	Completed Study; data analyses ongoing	18-80 Years	NICHD	Congenital
16-C-0003	Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies	Participants currently recruited/enrolled	4-75 Years	NCI	Congenital
15-DK-0108	Natural History of Noncirrhotic Portal Hypertension	Participants currently recruited/enrolled	12-100 Years	NIDDK	Congenital
14-HG-0071	Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation	Participants currently recruited/enrolled	1-80 Years	NHGRI	Congenital
14-HG-0055	Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders	Completed Study; data analyses ongoing	2-80 Years	NHGRI	Congenital
14-EI-0064	Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions	Participants currently recruited/enrolled	0-120 Years	NEI	Congenital
11-I-0187	The Natural History and Pathogenesis of Human Fungal Infections	Participants currently recruited/enrolled	0-99 Years	NIAID	Dystrophy
11-EI-0245	Generation of Induced Pluripotent Stem (iPS) Cell Lines from Somatic Cells of Participants with Eye Diseases and from Somatic Cells of Matched Controls	Participants currently recruited/enrolled	0-120 Years	NEI	Dystrophy
10-HG-0065	Genome Medical Sequencing for Gene Discovery	Participants currently recruited/enrolled	0-99 Years	NHGRI	Congenital
09-H-0225	Nonmyeloablative Haploidentical Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease and Beta-Thalassemia	No longer recruiting/follow-up only	2-100 Years	NHLBI	Congenital
08-C-0130	A Phase II Trial of Peginterferon alfa-2b (PEG-Intron) for Neurofibromatosis Type 1 Related Unresectable, Symptomatic or Life-Threatening Plexiform Neurofibromas	Completed Study; data analyses ongoing	0-21 Years	NCI	Congenital
06-EI-0236	National Ophthalmic Genotyping and Phenotyping Network Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases	No longer recruiting/follow-up only	0-100 Years	NEI	Dystrophy
06-CH-0011	Natural History Study of Patients with Excess Androgen	Participants currently recruited/enrolled	0-99 Years	NICHD	Congenital
03-H-0170	Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation for Severe Congenital Anemias Including Sickle Cell Disease (SCD) and B-Thalassemia	No longer recruiting/follow-up only	2-80 Years	NHLBI	Congenital
02-C-0052	Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study	Participants currently recruited/enrolled	0-100 Years	NCI	Congenital
96-CH-0033	An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children with Congenital Adrenal Hyperplasia	Completed Study; data analyses ongoing	2-18 Years	NICHD	Congenital
94-HG-0132	The Phenotype and Etiology of Proteus Syndrome	Participants currently recruited/enrolled	0-99 Years	NHGRI	Congenital
94-HG-0105	An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases	Participants currently recruited/enrolled	0-115 Years	NHGRI	Dystrophy
89-M-0006	Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers	Participants currently recruited/enrolled	3-125 Years	NIMH	Congenital