Registry of Patients Diagnosed With Lysosomal Storage Diseases (LSD Registry)

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.

Study Overview

• Status: Recruiting
• Conditions: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Wolman Disease; Pompe Disease Infantile-Onset; Mucopolysaccharidosis IV A; Mucopolysaccharidosis VII; Neuronopathic Gaucher Disease
• Intervention / Treatment: 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:

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

• Study Type: Observational
• Enrollment (Estimated): 250

Contacts and Locations

• Study Contact: Name: Billie Lianoglou, MS; Phone Number: 415-476-2461; Email: billie.lianoglou@ucsf.edu
• Study Contact Backup: Name: Emma Canepa, MS, CCRP; Phone Number: 415-476-7255; Email: Emma.Canepa@ucsf.edu

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94143
      • Recruiting
      • University of California San Francisco
      • Principal Investigator: Tippi C MacKenzie, MD
      • Contact: Billie Lianoglou, MS; Phone Number: 415-476-2461; Email: billie.lianoglou@ucsf.edu
      • Contact: Emma Canepa, MS, CCRP; Phone Number: 415-476-7255; Email: Emma.Canepa@ucsf.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 64 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

8

Cohorts and Interventions

Group / Cohort	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.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: University of California, San Francisco
• Investigators: Principal Investigator: Tippi C MacKenzie, MD, University of California, San Francisco

Study record dates

Study Major Dates

• Study Start (Actual): May 31, 2022
• Primary Completion (Estimated): May 31, 2050
• Study Completion (Estimated): May 31, 2050

Study Registration Dates

• First Submitted: November 9, 2022
• First Submitted That Met QC Criteria: November 9, 2022
• First Posted (Actual): November 17, 2022

Study Record Updates

• Last Update Posted (Actual): April 8, 2026
• Last Update Submitted That Met QC Criteria: April 6, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Hunter Syndrome; MPS; Mucopolysaccharidosis; Inborn Error of Metabolism; Lysosomal Storage Disease; Hurler Syndrome; Wolman Disease; Neuronopathic Gaucher Disease; Sly Syndrome; Mucopolysaccharidosis VI; LSDs; Mucopolysaccharidosis IVa; Mucopolysaccharidosis VII; Pompe Disease Infantile-Onset
• Additional Relevant MeSH Terms: Neurologic Manifestations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Connective Tissue Diseases; Neurobehavioral Manifestations; Infant, Newborn, Diseases; Heredodegenerative Disorders, Nervous System; Lipid Metabolism Disorders; Intellectual Disability; Genetic Diseases, X-Linked; Carbohydrate Metabolism, Inborn Errors; Mucinoses; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Sphingolipidoses; Lipidoses; Cholesterol Ester Storage Disease; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; X-Linked Intellectual Disability; Mucopolysaccharidoses; Mucopolysaccharidosis II; Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Metabolism, Inborn Errors; Gaucher Disease; Lysosomal Storage Diseases; Mucopolysaccharidosis VII; Mucopolysaccharidosis IV; Wolman Disease
• Other Study ID Numbers: 21-34933

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No