NIH Clinical Center: Search the Studies

Search the Studies

14 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
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
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
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
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
000413-H	Natural History study of CADASIL	Participants currently recruited/enrolled	18-100 Years	NHLBI	Autosomal
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
16-H-0132	CADASIL Disease Discovery	Completed Study; data analyses ongoing	18-100 Years	NHLBI	Autosomal
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
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