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Results for “LAL-Deficiency”

29 trials

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Enrolling by Invitation

Showing 20 of 29 results

Not applicableEnrolling By InvitationNCT05368038
What this trial is testing

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Who this might be right for
Acid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous Xanthomatosis+11 more
Albert Einstein College of Medicine 100,000
Testing effectiveness (Phase 2)Ended earlyNCT00668564
What this trial is testing

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

Who this might be right for
Hurler's SyndromeMaroteaux-Lamy SyndromeSly Syndrome+8 more
Masonic Cancer Center, University of Minnesota 18
Not applicableStudy completedNCT02372513
What this trial is testing

National Lysosomal Acid Lipase Deficiency Study

Who this might be right for
Cholesteryl Ester Storage Disease
Ankara University 810
Not applicableUnknownNCT02851550
What this trial is testing

Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients

Who this might be right for
Liver Post-transplant Patients
Hospices Civils de Lyon 100
Not applicableWithdrawnNCT02383641
What this trial is testing

Biomarker for Wolman Disease (BioWolman)

Who this might be right for
Acid Lipase DeficiencyAcid Cholesteryl Ester Hydrolase Deficiency, Wolman TypeCholesterol Ester Storage Disease
CENTOGENE GmbH Rostock
Testing effectiveness (Phase 2)Ended earlyNCT02193867
What this trial is testing

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

Who this might be right for
Lysosomal Acid Lipase Deficiency
Alexion Pharmaceuticals, Inc. 10
Not applicableNo Longer AvailableNCT02376751
What this trial is testing

An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency

Who this might be right for
Lysosomal Acid Lipase Deficiency
Alexion Pharmaceuticals, Inc.
Not applicableLooking for participantsNCT01633489
What this trial is testing

Lysosomal Acid Lipase (LAL) Deficiency Registry

Who this might be right for
Lysosomal Acid Lipase DeficiencyCholesterol Ester Storage DiseaseWolman Disease+4 more
Alexion Pharmaceuticals, Inc. 300
Not applicableUnknownNCT01791452
What this trial is testing

Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study

Who this might be right for
Non-alcoholic Fatty Liver DiseaseCholesterol Ester Storage Disease
Assy Nimer
Not applicableUnknownNCT01716728
What this trial is testing

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

Who this might be right for
Lysosomal Acid Lipase DeficiencyCholesterol Ester Storage Disease
Massachusetts General Hospital 60
Not applicableStudy completedNCT01358370
What this trial is testing

A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

Who this might be right for
Lysosomal Acid Lipase DeficiencyWolman Disease
Alexion Pharmaceuticals, Inc. 40
Large-scale testing (Phase 3)Study completedNCT01757184
What this trial is testing

Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency

Who this might be right for
Lysosomal Acid Lipase Deficiency
Alexion Pharmaceuticals, Inc. 66
Large-scale testing (Phase 3)Study completedNCT01371825
What this trial is testing

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

Who this might be right for
Lysosomal Acid Lipase DeficiencyWolman Disease
Alexion Pharmaceuticals, Inc. 9
Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Not applicableUnknownNCT00005900
What this trial is testing

Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

Who this might be right for
I Cell DiseaseFucosidosisGloboid Cell Leukodystrophy+9 more
Fairview University Medical Center 10
Not applicableEnded earlyNCT02345421
What this trial is testing

Identify and Characterize LAL-D Patients in High-risk Populations

Who this might be right for
Lysosomal Acid Lipase Deficiency
Alexion Pharmaceuticals, Inc. 640
Not applicableUnknownNCT03984149
What this trial is testing

Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)

Who this might be right for
Lysosomal Acid Lipase Deficiency
Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) 1,000
Not applicableStudy completedNCT01884220
What this trial is testing

Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up

Who this might be right for
Wolman DiseaseCholesterol Ester Storage DiseaseAcid Cholesteryl Ester Hydrolase Deficiency, Type 2
Children's Hospital Medical Center, Cincinnati 4
Testing effectiveness (Phase 2)Study completedNCT02112994
What this trial is testing

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

Who this might be right for
Lysosomal Acid Lipase Deficiency
Alexion Pharmaceuticals, Inc. 31
Not applicableUnknownNCT03564002
What this trial is testing

Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity

Who this might be right for
Lysosomal Acid Lipase DeficiencyObesityKetogenic Dieting+1 more
University Of Perugia 60
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