The University of California, San Francisco is creating a registry of patients with lysosomal storage diseases (LSDs). The registry, announced on ClinicalTrials.gov, will be an international prospective and retrospective registry with the aim of better understanding the natural history of these diseases and prenatal treatment outcomes.
Lysosomal acid lipase deficiency (LAL-D) and Pompe disease are among the several types of LSDs, which are rare hereditary metabolic diseases characterized by the excessive accumulation of toxic substances in the cells of the body. The condition is caused by genetic mutations that lead to deficiencies in specific enzymes that normally break down these substances and prevent their accumulation.
The overall goal of the registry is to improve prenatal management of patients with LSDs by creating a database of patients diagnosed prenatally or postnatally. The registry will serve to identify patient outcomes of treatments, improve clinical management, assist with medical decision-making, and improve overall quality of care.
Primary outcome measures over the 15-year follow-up period include the number of patients with prenatal features of LSDs, the number of patients with glycosaminoglycans in the urine, the number of patients with measurable antibody levels against the enzyme of interest, and measures of cardiac, growth, mobility, and neurocognitive function in the various patient groups.
Read more about LAL-D etiology
There is no intervention associated with this observational study. Participation is open to 8 groups of patients, including those with mucopolysaccharidosis I, II, IV A, VI, or VII, infantile-onset Pompe disease, neuronopathic Gaucher disease, and Wolman disease, a form of LAL-D.
A total enrollment of 250 patients is expected, and the target follow-up duration is 15 years. The registry was launched on May 31, 2022, and is estimated to be completed by May 31, 2050.
Registry of patients diagnosed with lysosomal storage diseases (LSD registry). ClinicalTrials.gov. November 17, 2022. Accessed December 29, 2022.