Proyecto	Estado	Tipo	IP	Crowdfunding
CRIBAJE DE DÉFICIT DE LIPASA ÁCIDA LISOSOMAL MEDIANTE GOTA DE SANGRE SECA Y ESTUDIOS CONFIRMATORIO EN POBLACIÓN ESPAÑOLA.	En proceso		Dra. Pilar Giraldo
EVALUACIÓN DE DIFERENTES ESTRATEGIAS PARA EL CRIBAJE DE DÉFICIT DE LIPASA ÁCIDA LISOSOMAL	Finalizado		Jorge Javier Cebolla Sanz; Unidad de Investigación Traslacional; Hospital Universitario Miguel Servet; Zaragoza
A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy)	En proceso	TIPO1	Alexion Pharmaceuticals
HSCT for High Risk Inherited Inborn Errors	Finalizado	TIPO1	Masonic Cancer Center, University of Minnesota
An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype	Finalizado		Alexion Pharmaceuticals
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype	Finalizado		Alexion Pharmaceuticals
A Study to Identify and Characterize LAL-D Patients in High-risk Populations	Finalizado		Alexion Pharmaceuticals
An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency	Finalizado		Alexion Pharmaceuticals
Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102	Finalizado		Alexion Pharmaceuticals
SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa (VITAL)	En proceso		Alexion Pharmaceuticals
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation	Finalizado
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism	Finalizado		Masonic Cancer Center, University of Minnesota
Human Placental-Derived Stem Cell Transplantation (HPDSC)	En proceso		New York Medical College
Lysosomal Acid Lipase (LAL) Deficiency Registry (ALX-LALD-501)	Finalizado		Alexion Pharmaceuticals
Stem Cell Transplant for Inborn Errors of Metabolism	Finalizado		Masonic Cancer Center, University of Minnesota
Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency	Finalizado		Alexion Pharmaceuticals
Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency	En proceso		Alexion Pharmaceuticals
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency	En proceso		Katherine Sims, MD, Massachusetts General Hospital
Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency	En proceso		Alexion Pharmaceuticals
Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Patients With Lysosomal Acid Lipase Deficiency	Finalizado		Alexion Pharmaceuticals
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis	En proceso		Masonic Cancer Center, University of Minnesota
Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders	Finalizado		Masonic Cancer Center, University of Minnesota
Screening for Lysosomal Acid Lipase Deficiency	En proceso		Alexion Pharmaceuticals
Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. (LALTH-1)	En proceso		Hospices Civils de Lyon
Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients (LALTH-2)	En proceso		Hospices Civils de Lyon
Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up	Finalizado		Children's Hospital Medical Center, Cincinnati
National Lysosomal Acid Lipase Deficiency Study (LAL-D)	En proceso		Zarife Kuloglu, Ankara University
Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study	En proceso		Assy Nimer, Ziv Hospital
Biomarker for Wolman Disease (BioWolman)			Prof. Dr. Arndt Rolfs