Recruiting

Observational Study

Sponsor:

UCLA

Code:

NCT05619900

Conditions

Mucopolysaccharidosis I

Mucopolysaccharidosis II

Mucopolysaccharidosis IV A

Mucopolysaccharidosis VI

Mucopolysaccharidosis VII

Eligibility Criteria

Sex: All

Age: 0 - 64

Healthy Volunteers: Not accepted

Interventions

There is no intervention

Study Details

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 I

Mucopolysaccharidosis II

Mucopolysaccharidosis IV A

Mucopolysaccharidosis VI

Mucopolysaccharidosis VII

Study ID

NCT05619900

Start date

May 31, 2022

Status verified date

Apr, 2026

Completion date

May 31, 2050

Anticipated

Primary completion date

May 31, 2050

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 64

Healthy Volunteers: Not accepted

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

Enrollment

250 participants

Anticipated

Interventions and Outcome Measures

Arms

Mucopolysaccharidosis I

Prenatally or postnatally diagnosed individuals

Mucopolysaccharidosis II

Prenatally or postnatally diagnosed individuals

Mucopolysaccharidosis IV A

Prenatally or postnatally diagnosed individuals

Mucopolysaccharidosis VI

Prenatally or postnatally diagnosed individuals

Mucopolysaccharidosis VII

Prenatally or postnatally diagnosed individuals

Infantile-Onset Pompe Disease

Prenatally or postnatally diagnosed individuals

Neuronopathic Gaucher

Prenatally or postnatally diagnosed individuals

Wolman Disease

Prenatally or postnatally diagnosed individuals

Interventions

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.

Primary outcome measure

  • Number of patients with and types of prenatal features of Lysosomal Storage Diseases [ Time Frame: 15 years ]
  • Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine. [ Time Frame: 15 years ]
  • Number of participants that show measured levels of antibodies against the enzyme. [ Time Frame: 15 years ]
  • Number of participants that show functional cardiac, growth, mobility, and neurocognitive function. [ Time Frame: 15 years ]

Central Contacts and Locations

Central contacts

Billie Lianoglou, MS

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

Emma Canepa, MS, CCRP

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

Locations

University of California San Francisco

Recruiting

San Francisco, California, United States, 94143

Contacts

Billie Lianoglou, MS

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

Emma Canepa, MS, CCRP

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

Principal Investigator:

Tippi C MacKenzie, MD

More Information

Sponsor

University of California, San Francisco

Last update posted

Apr 8, 2026

Last verified

Apr, 2026

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of California, San Francisco on 2026-04-08.