Clinical Trials Logo

Lysosomal Acid Lipase Deficiency clinical trials

View clinical trials related to Lysosomal Acid Lipase Deficiency.

Filter by:

NCT ID: NCT05687474 Recruiting - Cystic Fibrosis Clinical Trials

Baby Detect : Genomic Newborn Screening

Start date: September 1, 2022
Phase:
Study type: Observational

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

NCT ID: NCT05368038 Enrolling by invitation - Fabry Disease Clinical Trials

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

ScreenPlus
Start date: May 10, 2021
Phase:
Study type: Observational

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 panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.

NCT ID: NCT03984149 Recruiting - Clinical trials for Lysosomal Acid Lipase Deficiency

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

Start date: September 1, 2017
Phase:
Study type: Observational

Familial Hypercholesterolemia (FH) is a monogenic autosomal dominant disease also known as Autosomal Dominant Hypercholesterolemia - ADH) that leads to dramatically increased levels of Low Density Lipoprotein (LDL) and total cholesterol associated to tendon xanthomas, xanthelasma, corneal arcus, premature atherosclerosis and to an increased risk of coronary artery disease (CAD) and myocardial infarction. FH is mainly caused by mutations in genes encoding for proteins affecting hepatic LDL cholesterol uptake including the LDL receptor (LDLR) gene or the gene encoding the only apolipoprotein of LDL, the apolipoprotein B (APOB), or the gene encoding a protease regulating LDLR levels on the cell membrane Lysosomal Acid Lipase A (LIPA) gene encode for Lysosomal acid lipase (LAL) enzyme responsible for hydrolyzing cholesterol esters and triglycerides that are delivered to lysosomes. Mutations in LIPA that completely inactivate LAL are the molecular cause of Wolman disease, a rapidly lethal disease of infancy while mutations in LIPA that result in residual enzymatic activity of LAL are responsible of a disorder characterized by a less severe phenotype known as cholesterol ester storage disease (CESD). Patients with CESD usually show a phenotype characterized by hepatic disease and mixed hyperlipidemia with elevated levels of LDL-C and triglycerides (TG) and decreased HDL-C levels. A broader phenotypic presentation for loss of function mutations in LIPA suggests that LIPA mutations may be considered in patients with apparently monogenic FH in whom mutations in the known candidate genes are not detectable. The project is aimed to evaluate the prevalence and the mutation rate of LIPA gene in subjects with a clinical diagnosis of FH and already genetically characterized in whom pathogenic mutations in the known candidate genes have not been identified. The analysis will be performed in about 250 FH pediatric subjects and putative causal mutations will be also tested for co-segregation in available families in affected and unaffected members.

NCT ID: NCT03564002 Recruiting - Obesity Clinical Trials

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

Start date: October 1, 2016
Phase:
Study type: Observational

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. The aim of our study is to evaluate VLCKD impact on metabolic/vascular parameters and LAL activity in obese patients. A VLCKD is administered for 25 days to 52 morbid obese patients (BMI 44.7±8.3 kg/m², age 49±12.5 years); at baseline and after diet we evaluated: BMI, glyco-lipidic pattern, abdominal ultrasonography (liver steatosis and visceral fat area) and flow-mediated dilation (FMD). In a subgroup of 20 patients we also tested lysosomal acid lipase (LAL)-activity. A group of healthy normal weight subjects (age 43±13, BMI 22.8±2.6 kg/m²) was also included in the study.

NCT ID: NCT02926872 Terminated - Clinical trials for Lysosomal Acid Lipase Deficiency

Screening for Lysosomal Acid Lipase Deficiency

Start date: November 2016
Phase: N/A
Study type: Observational

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 should be tested for LAL-D.

NCT ID: NCT02376751 No longer available - Clinical trials for Lysosomal Acid Lipase Deficiency

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

Start date: n/a
Phase: N/A
Study type: Expanded Access

This is an open-label, multicenter expanded access protocol to allow patients with a confirmed diagnosis of Lysosomal Acid Lipase (LAL) Deficiency in the United States (US), access to sebelipase alfa (recombinant lysosomal acid lipase [rhLAL]) until commercial product is available. Patients enrolled in the expanded access protocol will receive 1 mg/kg intravenous infusions of sebelipase alfa every other week.

NCT ID: NCT02345421 Terminated - Clinical trials for Lysosomal Acid Lipase Deficiency

A Study to Identify and Characterize LAL-D Patients in High-risk Populations

Start date: December 2014
Phase: N/A
Study type: Observational

The objective of this study is to determine the frequency of Lysosomal Acid Lipase Deficiency (LAL D) by lysosomal acid lipase (LAL) enzyme activity assay in patients who are considered to be at risk.

NCT ID: NCT02193867 Terminated - Clinical trials for Lysosomal Acid Lipase Deficiency

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

Start date: June 6, 2014
Phase: Phase 2
Study type: Interventional

This was an open-label, repeat-dose, study of sebelipase alfa in infants with rapidly progressive lysosomal acid lipase deficiency (LAL-D). Eligible participants received once-weekly infusions of sebelipase alfa for up to 3 years.

NCT ID: NCT02112994 Completed - Clinical trials for Lysosomal Acid Lipase Deficiency

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

Start date: June 24, 2014
Phase: Phase 2
Study type: Interventional

This study evaluated the safety and efficacy of sebelipase alfa in a broad population of participants with lysosomal acid lipase deficiency (LAL-D).

NCT ID: NCT01757184 Completed - Clinical trials for Lysosomal Acid Lipase Deficiency

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

ARISE
Start date: January 22, 2013
Phase: Phase 3
Study type: Interventional

This Phase 3 study evaluated the efficacy and safety of 1 milligram/kilogram (mg/kg) intravenous (IV) infusions of SBC-102 (sebelipase alfa) administered every other week (qow) in participants with late onset lysosomal acid lipase deficiency (LAL-D) (cholesteryl ester storage disease [CESD]). Late-onset LAL-D is an underappreciated cause of cirrhosis, liver failure and dyslipidemia. There is currently no standard treatment for LAL-D other than supportive care. Enzyme replacement therapy may be a potential new treatment option for LAL-D participants.