A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
A Multicenter Study to Evaluate and Characterize the Effects of Pharmacological Chaperones in Cell Lines Derived From Blood and Skin Samples From Patients With Pompe Disease
1 other identifier
observational
30
1 country
4
Brief Summary
The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease. The study will last 1 or 2 visits which will include a blood collection, urine collection, and two skin biopsies. Information will also be collected from the medical records about disease history and diagnosis. Patients will not receive any study medication.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Aug 2007
Shorter than P25 for all trials
4 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
August 1, 2007
CompletedFirst Submitted
Initial submission to the registry
August 10, 2007
CompletedFirst Posted
Study publicly available on registry
August 13, 2007
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2008
CompletedStudy Completion
Last participant's last visit for all outcomes
January 1, 2008
CompletedJune 5, 2008
June 1, 2008
5 months
August 10, 2007
June 4, 2008
Conditions
Outcome Measures
Primary Outcomes (1)
To evaluate and characterize the effects of pharmacological chaperones on enzyme activity and other markers of disease in cell lines derived from patients with Pompe disease
1 week
Secondary Outcomes (1)
To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease
1 week
Study Arms (1)
1
Group 1 (all subjects)
Interventions
Eligibility Criteria
Patients with Pompe disease
You may qualify if:
- Male or female of any age
- Confirmed diagnosis of Pompe disease (early or late-onset)
- Clinically stable
- Written informed consent by subject or legal representative
You may not qualify if:
- Other significant disease or otherwise unsuitable for the study, as determined by the investigator
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (4)
University of Florida
Gainesville, Florida, 32610-0296, United States
Washington University
St Louis, Missouri, 63110, United States
Center for Metabolic Disorders
Lake Success, New York, 11042, United States
Duke University
Durham, North Carolina, 27708, United States
Biospecimen
White blood cells
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Irina Kline, MD
Amicus Therapeutics
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- INDUSTRY
Study Record Dates
First Submitted
August 10, 2007
First Posted
August 13, 2007
Study Start
August 1, 2007
Primary Completion
January 1, 2008
Study Completion
January 1, 2008
Last Updated
June 5, 2008
Record last verified: 2008-06