Registry of Patients Diagnosed With Lysosomal Storage Diseases
NCT ID: NCT05619900
Last Updated: 2025-01-27
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
250 participants
OBSERVATIONAL
2022-05-31
2050-05-31
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
OTHER
Study Groups
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Mucopolysaccharidosis I
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Mucopolysaccharidosis II
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Mucopolysaccharidosis IV A
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Mucopolysaccharidosis VI
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Mucopolysaccharidosis VII
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Infantile-Onset Pompe Disease
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Neuronopathic Gaucher
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Wolman Disease
Prenatally or postnatally diagnosed individuals
There is no intervention
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.
Interventions
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There is no intervention
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.
Eligibility Criteria
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Inclusion Criteria
* Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
64 Years
ALL
No
Sponsors
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University of California, San Francisco
OTHER
Responsible Party
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Principal Investigators
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Tippi C MacKenzie, MD
Role: PRINCIPAL_INVESTIGATOR
University of California, San Francisco
Locations
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University of California San Francisco
San Francisco, California, United States
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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21-34933
Identifier Type: -
Identifier Source: org_study_id
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