Registry of Patients Diagnosed With Lysosomal Storage Diseases
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 250
- Locations
- 1
- Primary Endpoint
- Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
Study Overview
Brief Summary
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.
Detailed Description
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:
- Identify patient outcomes of therapies.
- Improve clinical management of patients with LSDs.
- Improve medical decision making.
- Improve quality of care.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Other
Eligibility Criteria
- Ages
- — to 64 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Patients aged 0-64 with a diagnosis of a lysosomal storage disease
- •Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
Exclusion Criteria
- •There are no current exclusion criteria
Outcomes
Primary Outcomes
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
Time Frame: 15 years
echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
Number of patients with and types of prenatal features of Lysosomal Storage Diseases
Time Frame: 15 years
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Number of participants that show measured levels of antibodies against the enzyme.
Time Frame: 15 years
Laboratory analysis of blood to measure antibody levels.
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Time Frame: 15 years
Laboratory analysis of urine for GAG levels.
Secondary Outcomes
No secondary outcomes reported