NCT01758354

Brief Summary

The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
236,536

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Sep 2005

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2005

Completed
2.9 years until next milestone

First Submitted

Initial submission to the registry

July 9, 2008

Completed
1.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2009

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2009

Completed
3.1 years until next milestone

First Posted

Study publicly available on registry

January 1, 2013

Completed
Last Updated

January 1, 2013

Status Verified

November 1, 2012

Enrollment Period

4.3 years

First QC Date

July 9, 2008

Last Update Submit

December 26, 2012

Conditions

Pompe Disease

Keywords

Pompe diseasealpha glucosidase deficiency

Outcome Measures

Primary Outcomes (1)

  • detect patients with infantile onset Pompe disease

    3 months

Study Arms (1)

Pompe disease newborn screening

EXPERIMENTAL

newborns will be tested if they were affected by Pompe disease

Other: Pompe disease newborn screening

Interventions

Pompe disease newborn screeningOTHER

DBS will be tested for acid alpha-glucosidase (GAA)activity. Newborns with low GAA activity will received a confirmatory blood sampling and clinical evaluation for the presence of cardiomyopathy.

Pompe disease newborn screening

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • newborns receiving newborn screening in Newborn Screening center of National Taiwan Univeristy Hospital
  • parents signed inform consent for this study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Taiwan University Hospital

Taipei, Taiwan

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGlycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Whu-Liang Hwu, MD, PhD

    National Taiwan University Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
SCREENING
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 9, 2008

First Posted

January 1, 2013

Study Start

September 1, 2005

Primary Completion

December 1, 2009

Study Completion

December 1, 2009

Last Updated

January 1, 2013

Record last verified: 2012-11

Locations

TW(1)