NIH Clinical Center: Search the Studies

Search the Studies

29 Studies found from all possible combinations of your search terms. Select a protocol that you wish to review.

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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	Recruitment has not started	3-17 Years	CC	Muscular Dystrophy
000686-CH	Intrathecal 2-Hydroxypropyl-Beta-Cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1	Participants currently recruited/enrolled	18-125 Years	NICHD	Autosomal Recessive
000625-N	Investigational use of Neuromuscular Ultrasound	Participants currently recruited/enrolled	18-125 Years	NINDS	Muscular Dystrophy
18-I-0022	Use of Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients with Leukocyte Adhesion Deficiency Type 1 (LAD1) who have Inflammatory Pathology	Participants currently recruited/enrolled	12-65 Years	NIAID	Autosomal Recessive
18-HG-0064	A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)	Completed Study; data analyses ongoing	0-125 Years	NHGRI	Autosomal Recessive
15-H-0155	Hereditary Parkinson Disease Natural History Protocol	Completed Study; data analyses ongoing	18-80 Years	NHLBI	Autosomal Recessive
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	0-125 Years	NINDS	Muscular Dystrophy
00-N-0043	Clinical and Molecular Manifestations of Inherited Neurological Disorders	Participants currently recruited/enrolled	2-125 Years	NINDS	Muscular Dystrophy
00-HG-0153	Investigations into Chediak-Higashi Syndrome and Related Disorders	Participants currently recruited/enrolled	0-70 Years	NHGRI	Autosomal Recessive
98-CH-0081	Clinical and Basic Investigations into Smith-Lemli-Opitz Syndrome	Completed Study; data analyses ongoing	0-125 Years	NICHD	Autosomal Recessive
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
000696-C	A Phase III, Multicenter, International Study with a Parallel, Randomized, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants with NF1 who have Symptomatic, Inoperable Plexiform Neurofibr	Participants currently recruited/enrolled	18-120 Years	NCI	Autosomal
000520-C	Phase I/II Evaluation of a Cancer Lysate Vaccine and Montanide(R) ISA-51 VG with or without the IL-15 Super-Agonist N-803 as Adjuvant Therapy for PD-L1 Negative Non-Small Cell Lung Cancer	Recruitment has not started	18-125 Years	NCI	Autosomal
000428-N	An Observational Study to Assess Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)	Participants currently recruited/enrolled	18-125 Years	NINDS	Muscular
000413-H	Natural History study of CADASIL	Participants currently recruited/enrolled	18-100 Years	NHLBI	Autosomal
000108-EI	An Observational Prospective Natural History Study of Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4	Participants currently recruited/enrolled	10-125 Years	NEI	Dystrophy
20-EI-0163	Oral Metformin for Treatment of ABCA4 Retinopathy	Participants currently recruited/enrolled	12-125 Years	NEI	Dystrophy
20-DC-0047	Natural History of Autosomal Dominant Hearing Loss	Participants currently recruited/enrolled	3-99 Years	NIDCD	Autosomal
20-D-0122	A Phase IIb, Open-label Dose-ranging Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics, and Efficacy of CLTX-305 (encaleret) in Autosomal Dominant Hypocalcemia Type 1 (ADH1)	No longer recruiting/follow-up only	16-125 Years	NIDCR	Autosomal
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
16-H-0132	CADASIL Disease Discovery	Completed Study; data analyses ongoing	18-100 Years	NHLBI	Autosomal
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	1-125 Years	NEI	Dystrophy
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	Autosomal
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	2-125 Years	NEI	Dystrophy
00-I-0159	Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)	Participants currently recruited/enrolled	0-125 Years	NIAID	Autosomal
94-HG-0105	An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases	Participants currently recruited/enrolled	0-125 Years	NHGRI	Dystrophy