Condition or Therapy:

Fabry disease, Gaucher disease, Pompe disease and Hurler/MPS1 

Category:

Genetics; Developmental Medicine 

What is the goal of this study?

The goal of this study is to:

  1. Enhance the understanding of the variability, progression, identification, and natural history of the manifestations of Fabry, Gaucher, Pompe, and MPS1
  2. Assist the medical community with the development of recommendations for monitoring patients and reports on the patient outcomes to help optimize patient care
  3. Characterize and describe Fabry, Gaucher, Pompe, and MPS1 as a whole
  4. Evaluate the long-term effectiveness and safety of available treatment options and support measures

Who can join the study?

All patients with a confirmed diagnosis of Fabry, Gaucher, Pompe, or MPS1 disease are eligible to join the study. 

What will happen if my child takes part in this study?

Patients are asked to allow the study team to access their medical records and enter relevant clinical data into the study's database. Patient's will be assigned a subject study code so that their name is not in the database. Study participants will also be asked to periodically fill out quality of life questionnaires. 

Who can I contact for more information?

Please contact our study team at 206-884-1264 or by email.


Study Location(s):

Seattle Children's Hospital main campus 

Principal Investigator:

Dr. Lawerence Merritt

Study posted: June 27, 2019