LSD Registry: Registry of Patients Diagnosed With Lysosomal Storage Diseases

Sponsor

University of California, San Francisco (Other)

Overall Status

Recruiting

CT.gov ID

NCT05619900

Collaborator

(none)

250

Enrollment

Location

336

Anticipated Duration (Months)

0.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Mucopolysaccharidosis I Mucopolysaccharidosis II Mucopolysaccharidosis IV A Mucopolysaccharidosis VI Mucopolysaccharidosis VII Pompe Disease Infantile-Onset Neuronopathic Gaucher Disease Wolman Disease	Other: There is no intervention

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 [Patient Registry]

Anticipated Enrollment :

250 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Actual Study Start Date :

May 31, 2022

Anticipated Primary Completion Date :

May 31, 2050

Anticipated Study Completion Date :

May 31, 2050

Arms and Interventions

Arm	Intervention/Treatment
Mucopolysaccharidosis I Prenatally or postnatally diagnosed individuals	Other: 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	Other: 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	Other: 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	Other: 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	Other: 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	Other: 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	Other: 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	Other: 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.

Outcome Measures

Primary Outcome Measures

Number of patients with and types of prenatal features of Lysosomal Storage Diseases [15 years]
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. [15 years]
Laboratory analysis of urine for GAG levels.
Number of participants that show measured levels of antibodies against the enzyme. [15 years]
Laboratory analysis of blood to measure antibody levels.
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function. [15 years]
echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.