Registry of Patients Diagnosed With Lysosomal Storage Diseases

Mucopolysaccharidosis II Clinical Trial

— LSD Registry  

Official title:

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05619900
• Other study ID #: 21-34933
• Status: Recruiting
• Start date: May 31, 2022
• Est. completion date: May 31, 2050

Study information

• Verified date: December 2023
• Source: University of California, San Francisco
• Contact: Billie Lianoglou, MS
• Phone: 415-476-2461
• Email: billie.lianoglou[@]ucsf.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 250
• Est. completion date: May 31, 2050
• Est. primary completion date: May 31, 2050
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 64 Years

Eligibility

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

Related Conditions & MeSH terms

• Gaucher Disease
• Glycogen Storage Disease Type II
• Lysosomal Storage Diseases
• Mucopolysaccharidoses
• Mucopolysaccharidosis I
• Mucopolysaccharidosis II
• Mucopolysaccharidosis IV
• Mucopolysaccharidosis IV A
• Mucopolysaccharidosis VI
• Mucopolysaccharidosis VII
• Pompe Disease Infantile-Onset
• Wolman Disease

Intervention

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.

Locations

Country	Name	City	State
United States	University of California San Francisco	San Francisco	California

Sponsors (1)

Lead Sponsor	Collaborator
University of California, San Francisco

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	15 years
Primary	Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.	Laboratory analysis of urine for GAG levels.	15 years
Primary	Number of participants that show measured levels of antibodies against the enzyme.	Laboratory analysis of blood to measure antibody levels.	15 years
Primary	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.	15 years