Clinical trials: Cholesteryl Ester Storage Disease
Cholesteryl Ester Storage Disease
National Lysosomal Acid Lipase Deficiency Study
Cholesteryl Ester Storage Disease (CESD) is an autosomal recessive lysosomal storage disorder (LSD) caused by mutations in the lysosomal acid lipase gene (LIPA) that markedly reduce lysosomal acid lipase (LAL) activity, leading…
- Trial name
- LAL-D (NCT02372513)
- Where
- Turkey (Türkiye)
- Volunteers
- 810 people
- Sponsor
- Ankara University
Lysosomal Acid Lipase Deficiency
Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency
This study evaluated the safety and efficacy of sebelipase alfa in a broad population of participants with lysosomal acid lipase deficiency (LAL-D).
- Trial name
- NCT02112994
- Testing
- Sebelipase Alfa
- Where
- 19 sites in United States, Australia and 13 more
- Volunteers
- 31 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
MPS I, MPS II
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses…
- Conditions
- MPS I, MPS II, MPS IVA, MPS VI
- Trial name
- PEARL (NCT04532047)
- Testing
- Aldurazyme (laronidase)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of California, San Francisco
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Patients Waiting for a Liver Transplant.
Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholesterol esters and triglycerides.
- Trial name
- LALTH-1 (NCT02852304)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Hospices Civils de Lyon
Liver Post-transplant Patients
Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients
Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholesterol esters and triglycerides.
- Trial name
- LALTH-2 (NCT02851550)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Hospices Civils de Lyon
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Hurler's Syndrome, Maroteaux-Lamy Syndrome
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism undergoing hematopoietic stem cell…
- Conditions
- Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis
- Trial name
- NCT00668564
- Testing
- Stem Cell Transplantation, Cyclophosphamide, Campath-1H
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities.
- Trial name
- NCT01716728
- Testing
- enzyme analysis
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Massachusetts General Hospital
Wolman Disease, Cholesterol Ester Storage Disease
Wolman/CESD Natural History Chart Review and Longitudinal Follow-Up
The purpose of this study are: to characterize and understand the natural history of disease progression in WD and CESD, and to provide historical controls for WD and CESD for developing clinical treatment trials.
- Conditions
- Wolman Disease, Cholesterol Ester Storage Disease, Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- Trial name
- NCT01884220
- Testing
- There are no interventions in this study.
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Lysosomal Acid Lipase Deficiency, Obesity
Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
The very low carbohydrates diet (VLCKD) induces liver steatosis amelioration. Lysosomal acid lipase (LAL) deficiency plays a role in fats accumulation in liver. To date, no studies have assessed LAL activity in morbid obesity.
- Conditions
- Lysosomal Acid Lipase Deficiency, Obesity, Ketogenic Dieting, Ketosis
- Trial name
- NCT03564002
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Of Perugia
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Lysosomal Acid Lipase Deficiency, Wolman Disease
A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype
This is a Natural History study to characterize key aspects of the clinical course of lysosomal acid lipase (LAL) deficiency/Wolman phenotype in patients.
- Trial name
- NCT01358370
- Where
- 14 sites in United States, Canada and 3 more
- Volunteers
- 40 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Obesity, Wolman Disease
Breakfast for Young Women
Investigators will in a crossover study test the health effects of eating a dairy-based protein-rich breakfast, isocaloric carbohydrate-rich breakfast or no breakfast in young overweight women.
- Conditions
- Obesity, Wolman Disease, Nutrition
- Trial name
- GoDag (NCT04652713)
- Testing
- Protein-rich breakfast, Carbohydrate-rich breakfast, No breakfast
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency
Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency
This was an extension study to Study LAL-CL01 (NCT01307098). The primary objective of the study was to evaluate the long-term safety and tolerability of sebelipase alfa in participants with liver dysfunction due to lysosomal acid…
- Conditions
- Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
- Trial name
- NCT01488097
- Testing
- sebelipase alfa
- Where
- 10 sites in United States, Canada and 3 more
- Volunteers
- 8 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Lysosomal Acid Lipase Deficiency
Screening for Lysosomal Acid Lipase Deficiency
The primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients…
- Trial name
- NCT02926872
- Testing
- There is no intervention in the study
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Alexion Pharmaceuticals, Inc.