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Wolman Disease Clinical Trials

A listing of Wolman Disease medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

RESULTS

Found (4) clinical trials

Lysosomal Acid Lipase (LAL) Deficiency Registry

Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lysosomal storage disorder (LSD) that is caused by a marked decrease of lysosomal acid lipase (LAL), the enzyme that breaks down cholesteryl esters and triglycerides in the lysosomes. Lysosomal Acid Lipase Deficiency presenting in infants (historically called Wolman Disease) is ...

Phase N/A

Lysosomal Acid Lipase Increase After Chetogenic Diet.

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 ...

Phase N/A

Biomarker for Wolman Disease (BioWolman)

Wolman disease (WD) is a rare genetic disorder characterized by complete absence of an enzyme known as lysosomal acid lipase (LIPA). This enzyme is required to breakdown (metabolize) lipids in the body. Without the LIPA enzyme, lipids may abnormally accumulate in the tissues and organs of the body causing a ...

Phase N/A

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

Lysosomal acid lipase (LAL) is encoded by LIPA gene located on chromosome 10q23.3-q23 and consists of 10 exons. LIPA mRNA (messenger RiboNucleic Acid) (GenBank accession number NM_000235) is 2782 bp long and encodes a mature protein of 375 residues (GenBank accession number NP_000226). The sequencing of all 10 exons of ...

Phase N/A