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16 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
001562-IA Phase I/II, Non-Randomized, Open-Label Study of pCCLCHIM-p47 (Lentiviral Vector Transduced CD34+ Cells) in Patients with p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)Enrolling by Invitation3-65 YearsNIAIDAutosomal Recessive
000686-CHIntrathecal 2-Hydroxypropyl-Beta-Cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1Participants currently recruited/enrolled18-125 YearsNICHDAutosomal Recessive
18-I-0022Use of Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients with Leukocyte Adhesion Deficiency Type 1 (LAD1) who have Inflammatory PathologyParticipants currently recruited/enrolled12-65 YearsNIAIDAutosomal Recessive
18-HG-0064A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)Completed Study; data analyses ongoing1-110 YearsNHGRIAutosomal Recessive
15-H-0155Hereditary Parkinson Disease Natural History ProtocolCompleted Study; data analyses ongoing18-80 YearsNHLBIAutosomal Recessive
00-HG-0153Investigations into Chediak-Higashi Syndrome and Related DisordersParticipants currently recruited/enrolled0-70 YearsNHGRIAutosomal Recessive
98-CH-0081Clinical and Basic Investigations into Smith-Lemli-Opitz SyndromeCompleted Study; data analyses ongoing0-125 YearsNICHDAutosomal Recessive
001521-DCALIBRATE: A Phase 3, Randomized, Open-Label Study Evaluating the Efficacy and Safety of Encaleret Compared to Standard of Care in Participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1)Participants currently recruited/enrolled16-99 YearsNIDCRAutosomal
000696-CA 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 NeurofibrParticipants currently recruited/enrolled18-120 YearsNCI Autosomal
000520-CPhase 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 CancerParticipants currently recruited/enrolled18-125 YearsNCI Autosomal
000413-HNatural History study of CADASILParticipants currently recruited/enrolled18-100 YearsNHLBIAutosomal
20-DC-0047Natural History of Autosomal Dominant Hearing LossParticipants currently recruited/enrolled3-99 YearsNIDCDAutosomal
20-D-0122A 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)Completed Study; data analyses ongoing16-100 YearsNIDCRAutosomal
16-H-0132CADASIL Disease DiscoveryCompleted Study; data analyses ongoing18-100 YearsNHLBIAutosomal
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 Autosomal
00-I-0159Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)Participants currently recruited/enrolled0-120 YearsNIAIDAutosomal