This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
The need for methods to track patient outcomes, clinical management, medical decision making, and quality of care are all part of current national mandates in patient safety and quality of care delivery. The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with Lysosomal Storage Disease and other LSD mutations. Data collected will be used to: 1. Identify patient outcomes of therapies. 2. Improve clinical management of patients with LSDs. 3. Improve medical decision making. 4. Improve quality of care.
Study Type
OBSERVATIONAL
Enrollment
250
This is an observational study. There is no intervention. The purpose of the project is to create a database of patients diagnosed either prenatally or after birth with a lysosomal storage disease. The database will be utilized to assess patient outcomes, build on existing clinical management, improve medical decision making, and improve quality of care.
University of California San Francisco
San Francisco, California, United States
RECRUITINGNumber of patients with and types of prenatal features of Lysosomal Storage Diseases
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Time frame: 15 years
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Laboratory analysis of urine for GAG levels.
Time frame: 15 years
Number of participants that show measured levels of antibodies against the enzyme.
Laboratory analysis of blood to measure antibody levels.
Time frame: 15 years
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
Time frame: 15 years
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