Managed Access Programs for BYL719, Alpelisib

A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)

NCT04980872 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2

Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA

NCT02443818 ·Status: COMPLETED ·Phase: PHASE2

A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation

NCT06789913 ·Status: RECRUITING ·Phase: PHASE2

A Study of TAK-625 for the Treatment of Alagille Syndrome (ALGS)

NCT05543174 ·Status: COMPLETED ·Phase: PHASE3

Long-Term SafEty and Clinical Outcomes of LivmArli in Patients in the United States (LEAP-US)

NCT06193928 ·Status: RECRUITING

Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation

NCT02428296 ·Status: COMPLETED ·Phase: PHASE2

Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI

NCT00048711 ·Status: COMPLETED ·Phase: PHASE2

A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease

NCT01422187 ·Status: COMPLETED ·Phase: PHASE3

A Multicenter, Open-label, Pilot Study of Soticlestat (TAK-935/OV935) in Participants With 15Q Duplication Syndrome (Dup 15q) or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY)

NCT03694275 ·Status: COMPLETED ·Phase: PHASE2

Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency

NCT02112994 ·Status: COMPLETED ·Phase: PHASE2

A Study to Test the Ability of and Safety of GSK2110183 in Treating Langerhans Cell Histiocytosis

NCT01395004 ·Status: COMPLETED ·Phase: PHASE2

Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA

NCT04201405 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of CYH33 in Patients With PIK3CA-related Overgrowth Spectrum (PROS) and PIK3CA-related Vascular Malformations (PRVM)

NCT06975618 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis

NCT01744782 ·Status: COMPLETED ·Phase: PHASE3

Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease

NCT02995993 ·Status: COMPLETED ·Phase: PHASE1

An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1

NCT03259633 ·Status: APPROVED_FOR_MARKETING

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

NCT02193867 ·Status: TERMINATED ·Phase: PHASE2

VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease

NCT02898753 ·Status: TERMINATED ·Phase: PHASE1/PHASE2

A Phase II Trial to Evaluate the Clinical Efficacy, Safety and Tolerability of MAS825 in Pediatric and Adult Participants With Still's Disease

NCT07203001 ·Status: RECRUITING ·Phase: PHASE2

Treatment Protocol of Plozasiran in Adults With High-Risk Severe Hypertriglyceridemia (SHTG) and in Adults and Adolescents With FCS

NCT06796426 ·Status: AVAILABLE

Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome in the European Union (LEAP-EU)

NCT07290257 ·Status: RECRUITING ·Phase: PHASE4

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

NCT05163288 ·Status: RECRUITING ·Phase: PHASE3

Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI

NCT00048620 ·Status: COMPLETED ·Phase: PHASE1

Gene Therapy in Patients With Mucopolysaccharidosis Disease

NCT03173521 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency

NCT01371825 ·Status: COMPLETED ·Phase: PHASE2/PHASE3