Registry of Patients Diagnosed With Lysosomal Storage Diseases

NCT05619900 | Recruiting

• 1 other identifier: 21-34933
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Lysosomal Storage Disease; LSDs; Inborn Error of Metabolism; Hurler Syndrome; Sly Syndrome; Hunter Syndrome; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IVa; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Pompe Disease Infantile-Onset; Neuronopathic Gaucher Disease; Wolman Disease; MPS; Mucopolysaccharidosis

Outcome Measures

Primary Outcomes (4)

• 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

Study Arms (8)

Mucopolysaccharidosis I

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Mucopolysaccharidosis II

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Mucopolysaccharidosis IV A

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Mucopolysaccharidosis VI

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Mucopolysaccharidosis VII

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Infantile-Onset Pompe Disease

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Neuronopathic Gaucher

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Wolman Disease

Prenatally or postnatally diagnosed individuals

Other: There is no intervention

Interventions

There is no intervention OTHER

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; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV A; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Neuronopathic Gaucher; Wolman Disease

Eligibility Criteria

• Age: Up to 64 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.

You may qualify if:

• Patients aged 0-64 with a diagnosis of a lysosomal storage disease
• Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease

Sponsors & Collaborators

• University of California, San Francisco: lead

Study Sites (1)

University of California San Francisco

San Francisco, California, 94143, United States

RECRUITING

MeSH Terms

Conditions

Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Gaucher Disease; Wolman Disease; Lysosomal Storage Diseases; Metabolism, Inborn Errors; Mucopolysaccharidoses

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Cholesterol Ester Storage Disease; Infant, Newborn, Diseases

Study Officials

• Tippi C MacKenzie, MD

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Billie Lianoglou, MS

CONTACT

415-476-2461; billie.lianoglou@ucsf.edu

Emma Canepa, MS, CCRP

CONTACT

415-476-7255; Emma.Canepa@ucsf.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 9, 2022
• First Posted: November 17, 2022
• Study Start: May 31, 2022
• Primary Completion (Estimated): May 31, 2050
• Study Completion (Estimated): May 31, 2050
• Last Updated: April 8, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)