A Study to Evaluate the Effects of Pharmacological Chaper... | NCT00515398

Studies
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

NCT00515398

Sponsor

Amicus Therapeutics

Status

Completed

Last Update Posted

Jun 5, 2008Estimated

Enrollment

30Actual

Phase

Not provided

Conditions

Pompe Disease
Glycogen Storage Disease Type II

Interventions

Observation

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2008

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Aug 2007

Primary Completion Date

Jan 2008Actual

Completion Date

Jan 2008Actual

First Submitted Date

Aug 10, 2007

First Submission Date that Met QC Criteria

Aug 10, 2007

First Posted Date

Aug 13, 2007Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 4, 2008

Last Update Posted Date

Jun 5, 2008Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

The study is designed to evaluate the response of cell lines derived from blood and skin tissue from Pompe patients to pharmacological chaperones. Samples of blood and skin tissue will be obtained to make cell lines that will be used to test pharmacological chaperones. The study will include patients with early and late-onset Pompe disease.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

30Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
1		Group 1 (all subjects)	Other: Observation

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Observation	Other	Ex vivo administration of AT2220	1

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Measure	Description	Time Frame
To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease		1 week

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Other significant disease or otherwise unsuitable for the study, as determined by the investigator

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patients with Pompe disease

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Irina Kline, MD	Amicus Therapeutics	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University of Florida		Gainesville	Florida	32610-0296	United States
Washington University

Condition Browse Module

MeSH Terms

ID	Term
D006009	Glycogen Storage Disease Type II

Ancestor Terms

ID	Term
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D019370	Observation

Ancestor Terms

ID	Term
D008722	Methods
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided