Trials Today

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Purpose

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.

Conditions

Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IV A
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Pompe Disease Infantile-Onset
Neuronopathic Gaucher Disease
Wolman Disease

Eligibility

Eligible Ages: Under 64 Years
Eligible 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

Study Design

Phase
Study Type: Observational [Patient Registry]
Observational Model: Cohort
Time Perspective: Other

Arm Groups

Arm	Description	Assigned Intervention
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.

Recruiting Locations

University of California San Francisco
San Francisco, California 94143

Contact:
Billie Lianoglou, MS
415-476-2461
billie.lianoglou@ucsf.edu

More Details

NCT ID: NCT05619900
Status: Recruiting
Sponsor: University of California, San Francisco

Study Contact

Billie Lianoglou, MS
415-476-2461
billie.lianoglou@ucsf.edu

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: 1. Identify patient outcomes of therapies. 2. Improve clinical management of patients with LSDs. 3. Improve medical decision making. 4. Improve quality of care.

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.