NCT01409486

Brief Summary

The aim of the study is: to develop a comprehensive biochemical assay for detection of Pompe disease (glycogen storage disease type II), to be implemented in the Newborn screening program among the Israeli population.

Trial Health

43
At Risk

Trial Health Score

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

Trial has exceeded expected completion date
Enrollment
10,000

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Sep 2011

Geographic Reach
1 country

1 active site

Status
unknown

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

First Submitted

Initial submission to the registry

July 7, 2011

Completed
28 days until next milestone

First Posted

Study publicly available on registry

August 4, 2011

Completed
28 days until next milestone

Study Start

First participant enrolled

September 1, 2011

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2013

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2013

Completed
Last Updated

August 4, 2011

Status Verified

August 1, 2011

Enrollment Period

2 years

First QC Date

July 7, 2011

Last Update Submit

August 3, 2011

Conditions

Pompe Disease

Keywords

Pompe diseaseAlpha glucosidaseNewborn screeningTandem Mass Spectrometry (LC-MS-MS)The study aims:To establish the control mean values of alpha glucosidase activity in Dry blood spots of Newborn babies from Israel.To include the alpha glucosidase assay in the newborn screening program in Israel

Outcome Measures

Primary Outcomes (1)

  • Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel

    Two years

Interventions

Drawing blood spots from NewbornsOTHER

Dry blood spots would be taken for determination of Alpha Glucosidase activity using LC-MS-MS

Eligibility Criteria

Age2 Days - 7 Days
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

10000 full-term newborns born in Northern Israel

You may qualify if:

  • New born babies born during the study period

You may not qualify if:

  • Premature babies

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Rambam Health Care Campus

Haifa, 31096, Israel

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

Central Study Contacts

Hanna Mandel, Prof.

CONTACT

972-50-2062637h_mandel@rambam.health.gov.il

Mariel Kaplan, PhD

CONTACT

972-48542622m_kaplan@rambam.health.gov.il

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER

Study Record Dates

First Submitted

July 7, 2011

First Posted

August 4, 2011

Study Start

September 1, 2011

Primary Completion

September 1, 2013

Study Completion

September 1, 2013

Last Updated

August 4, 2011

Record last verified: 2011-08

Locations

IL(1)