Registry of Patients Diagnosed With Lysosomal Storage Diseases

a study on Mucopolysaccharidosis Mucopolysaccharidosis Type I Hunter Syndrome Mucopolysaccharidosis Type VI Mucopolysaccharidosis Type VII Pompe Disease Gaucher Disease Wolman Disease

Summary

Eligibility
for people ages up to 64 years (full criteria)
Location
at UCSF
Dates
study started
completion around
Principal Investigator
by Tippi C MacKenzie, MD (ucsf)
Headshot of Tippi C MacKenzie
Tippi C MacKenzie

Description

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.

Details

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.

Keywords

Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease, Lysosomal Storage Disease, LSDs, Inborn Error of Metabolism, Hurler Syndrome, Sly Syndrome, Hunter Syndrome, Mucopolysaccharidosis IVa, MPS, Mucopolysaccharidosis, Osteochondrodysplasias, Gaucher Disease, Glycogen Storage Disease Type II, Mucopolysaccharidoses, Lysosomal Storage Diseases, Mucopolysaccharidosis IV, Neuronopathic Gaucher

Eligibility

You can join if…

Open to people ages up to 64 years

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

You CAN'T join if...

  • There are no current exclusion criteria

Location

  • University of California San Francisco accepting new patients
    San Francisco California 94143 United States

Lead Scientist at University of California Health

  • Tippi C MacKenzie, MD (ucsf)
    Tippi MacKenzie is a pediatric and fetal surgeon who is focused on developing better ways to diagnose and treat genetic diseases before birth. She leads a translational research lab examining the unique biology between the mother and her fetus, with the idea that pregnancy complications such as preterm labor arise from a breakdown in maternal-fetal tolerance.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT05619900
Study Type
Observational [Patient Registry]
Participants
Expecting 250 study participants
Last Updated