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.
Patients aged 0-64 with a diagnosis of a lysosomal storage disease
Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
There are no current exclusion criteria
Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.
Cohort
Other
There is no intervention
Other interventionThis 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.
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Treatment groupsSee each treatment group below.
Number 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.
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Laboratory analysis of urine for GAG levels.
Number of participants that show measured levels of antibodies against the enzyme.
Laboratory analysis of blood to measure antibody levels.
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.
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