NIH Clinical Center: Search the Studies

Search the Studies

23 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
02-CH-0311	Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders	Participants currently recruited/enrolled	0-125 Years	NICHD	Dysplasia X-Linked
001681-CH	Investigations of Individuals with MEHMO Syndrome or eIF2-Pathway Related Conditions	Participants currently recruited/enrolled	0-100 Years	NICHD	X-Linked
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	X-Linked
000798-D	A Phase 2 Study of Burosumab for Fibroblast Growth Factor-23 Mediated Hypophosphatemia in Fibrous Dysplasia	Participants currently recruited/enrolled	1-125 Years	NIDCR	Dysplasia
000780-D	A Phase 2 Study of Denosumab for Prevention of Skeletal Disease Progression in Children with Fibrous Dysplasia	Participants currently recruited/enrolled	4-14 Years	NIDCR	Dysplasia
000661-C	Comprehensive Molecular and Clinical Evaluation of Pediatric and Adult Myelodysplastic Syndromes (MDS)	Participants currently recruited/enrolled	0-120 Years	NCI	Dysplasia
000404-C	A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects with VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome	Participants currently recruited/enrolled	18-75 Years	NCI	X-Linked
000213-HG	Clinical and Laboratory Study of Rare Skeletal Disorders	Participants currently recruited/enrolled	0-125 Years	NHGRI	Dysplasia
000186-I	Part B- Phase I/II, Non-randomized, Multicenter, Open-label Study of G1XCGD (Lentiviral Vector Transduced CD34+ Cells) in Patients with X-Linked Chronic Granulomatous Disease	Participants currently recruited/enrolled	3-12 Years	NIAID	X-Linked
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	X-Linked
18-D-0114	An Open Label Pilot Study of Denosumab Treatment for Fibrous Dysplasia	No longer recruiting/follow-up only	18-125 Years	NIDCR	Dysplasia
15-I-0008	A Phase I/II, Non Randomized, Multicenter, Open-Label Study of G1XCGD (Lentiviral Vector Transduced CD34+ Cells) in Patients with X-linked Chronic Granulomatous Disease (CGD)	Completed Study; data analyses ongoing	3-65 Years	NIAID	X-Linked
15-EI-0038	A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis	No longer recruiting/follow-up only	18-125 Years	NEI	X-Linked
14-I-0020	Hematopoietic Stem Cell Mobilization in Idiopathic CD4 Lymphocytopenia Patients and Healthy Controls for the Study of T Cell Maturation and Trafficking in Murine Models	Participants currently recruited/enrolled	18-65 Years	NIAID	Dysplasia
11-I-0007	Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age with X-Linked Severe Combined Immunodeficiency	Clinical hold/Recruitment or enrollment suspended	2-40 Years	NIAID	X-Linked
05-I-0213	Screening and Baseline Assessment of Patients with Abnormalities of Immune Function	Participants currently recruited/enrolled	0-125 Years	NIAID	X-Linked
03-EI-0033	X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies	Participants currently recruited/enrolled	0-125 Years	NEI	X-Linked
01-D-0184	A Natural History Study of Bone and Mineral Disorders	Participants currently recruited/enrolled	0-125 Years	NIDCR	Dysplasia
00-N-0089	Genetic Analysis of the Chiari I Malformation	Completed Study; data analyses ongoing	1-125 Years	NINDS	Dysplasia
00-HG-0209	Molecular and Clinical Studies of Primary Immunodeficiency Diseases	No longer recruiting/follow-up only	3-125 Years	NHGRI	X-Linked
98-D-0145	Screening and Natural History of Patients with Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome	Participants currently recruited/enrolled	0-100 Years	NIDCR	Dysplasia
97-H-0041	Screening Protocol for Subjects Being Evaluated for National Heart, Lung and Blood Institute (NHLBI) Protocols	Enrolling by Invitation	2-100 Years	NHLBI	Dysplasia
94-I-0073	Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes	Participants currently recruited/enrolled	18-70 Years	NIAID	X-Linked