The Patient-Reported Outcomes Project of HCV-TARGET

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"This research study looks at how often a neuromuscular disease called Pompe disease occurs in the United States."
Age: 21 years or older
Gender:
Any
Healthy Volunteers: Yes
Keywords: Pompe Disease, neuromuscular disease
Type: Patient Registry
Target:
200 Participants
Investigator:
Description
This research study looks at how often a neuromuscular disease called Pompe disease occurs in the United States. Pompe disease is a rare genetic disease of the muscles. The research team wants to learn about the genetic occurrence of this disease.
This study requires

These things will happen if you want to be in the study: 1. Your doctors will fill out some questions about your health history. 2. A doctor or nurse will draw a small bit of your blood to see how active an enzyme related with Pompe disease is. 3. You will be asked to come back for a visit to the doctor’s office if your test results show a positive test for Pompe. During this visit, you and your parents will be told about the disease, how to take care of yourself and what needs to be done about the disease.

Who can participate

Inclusion Criteria:

  1. Age 8 years or older. We intend to enroll only late onset patients.
  2. Geographically accessible to one of the sites.
  3. One of these following three clinical situations: Complaint of proximal muscle weakness with or without elevation in creatine kinase (CK); neck muscle weakness (either flexor or extensor) with or without elevation in CK; or elevation of CK in isolation.
  4. Capable and willing to provide informed consent or assent and follow study procedures:

Exclusion Criteria:

  1. Less than 8 years of age. We intend to enroll only late-onset Pompe patients.
  2. Subjects with an alternative neuromuscular diagnosis that is responsible for subject’s symptoms
  3. Incapable or unwilling to provide informed consent and to follow research procedures.
Benefits and risks of participating
BENEFITS:

We cannot promise any benefit to you as a result of taking part in this research study. Your participation will help the study team learn about Pompe disease to help future patients. As a participant, you will also know whether or not you have Pompe disease. Knowing whether or not you have the disease will teach you ways to help manage.


RISKS:

The study doctor will discuss the risks associated with this research study.
Resources
Schedule
Recruitment period
From Sept. 20, 2016
Location
UC Davis Medical Center
2315 Stockton Boulevard
Sacramento, CA 95817
Contact
Sophia Zaragoza
Research Topic
Conditions:
  • Pompe Disease

Have any questions or want to learn more? Leave your contact details below and the research team will reach out to you.


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