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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01409486

Acronym

LC-MS-MS

Enrollment

10000

Registered

2011-08-04

Start date

2011-09-30

Completion date

2013-09-30

Last updated

2011-08-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

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.

Interventions

OTHERDrawing blood spots from Newborns

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

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Days to 7 Days

Healthy volunteers

Yes

Inclusion criteria

* New born babies born during the study period

Exclusion criteria

* Premature babies

Design outcomes

Primary

Measure	Time frame
Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel	Two years

Countries

Israel

Contacts

Primary ContactHanna Mandel, Prof.

h_mandel@rambam.health.gov.il972-50-2062637

Backup ContactMariel Kaplan, PhD

m_kaplan@rambam.health.gov.il972-48542622

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026