Registry of Patients Diagnosed With Lysosomal Storage Diseases

Description

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

Study Overview

Study Details

Study overview

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.

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Condition
Mucopolysaccharidosis I
Intervention / Treatment

-

Contacts and Locations

San Francisco

University of California San Francisco, San Francisco, California, United States, 94143

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * There are no current exclusion criteria

Ages Eligible for Study

to 64 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of California, San Francisco,

Tippi C MacKenzie, MD, PRINCIPAL_INVESTIGATOR, University of California, San Francisco

Study Record Dates

2050-05-31