CClinicalTrials.gg
Status unknownNCT01409486LC-MS-MSUpdated Aug 4, 2011

Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry

An observational study in Pompe Disease, sponsored by Rambam Health Care Campus. Status unknown at 1 site in Israel. Open to participants aged 2 Days to 7 Days, including healthy volunteers. Per ClinicalTrials.gov, last updated 2011-08-04.

Sponsored by Rambam Health Care Campus · Observational

The sponsor has not verified this record recently (last verified Aug 2011), so the status shown — last known as Not yet recruiting — may be out of date.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
10,000
Ages
2 Days to 7 Days
Sex
All
01

Study 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.

02

Conditions studied

  • Pompe Disease

Keywords

  • Pompe disease
  • Alpha glucosidase
  • Newborn screening
  • Tandem 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
03

In context

Glycogen Storage Disease Type II

151 studies on the registry are indexed under Glycogen Storage Disease Type II; 30 are open to participants now.

This study's planned enrollment of 10,000 is above the median of 50 across 62 observational studies indexed under Glycogen Storage Disease Type II.

Browse Glycogen Storage Disease Type II studies →

Lead sponsor

Rambam Health Care Campus is the lead sponsor of 456 studies on the registry; 33 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
2 Days to 7 Days
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

10000 full-term newborns born in Northern Israel

Inclusion criteria

  • New born babies born during the study period

Exclusion criteria

Exclusion Criteria:

  • Premature babies
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
10,000 participants (estimated)

Interventions

  • OtherDrawing blood spots from Newborns

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

06

What researchers measure

Primary outcomes

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

    Time frame: Two years

07

Study locations

1 site
  • Rambam Health Care Campus
    Haifa, 31096, Israel
    • Hanna Mandel, Prof. · Principal investigator
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Aug 4, 2011, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT01409486
Lead sponsor
Rambam Health Care Campus
First posted
Aug 4, 2011
Start date
Sep 2011
Primary completion
Sep 2013 (estimated)
Completion
Sep 2013 (estimated)
Last update
Aug 4, 2011

Study contacts

Hanna Mandel, Prof.
Contact
h_mandel@rambam.health.gov.il
972-50-2062637
Mariel Kaplan, PhD
Contact
m_kaplan@rambam.health.gov.il
972-48542622

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Aug 2011. You cannot join it, but the record below documents what was studied.

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