for people ages up to 64 years (full criteria)
at San Francisco, California
study started
completion around
Principal Investigator
by Tippi C MacKenzie, MD
Headshot of Tippi C MacKenzie
Tippi C MacKenzie



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.


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.


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


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


  • UCSF accepting new patients
    San Francisco California 94143 United States

Lead Scientist at UCSF

  • Tippi C MacKenzie, MD
    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.


accepting new patients
Start Date
Completion Date
University of California, San Francisco
Study Type
Observational [Patient Registry]
Expecting 250 study participants
Last Updated