Screening for Early Detection and Prevention of Pompe Dis... | NCT01409486

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

NCT01409486

Sponsor

Rambam Health Care Campus

Status

Unknown status

Last Update Posted

Aug 4, 2011Estimated

Enrollment

10,000Estimated

Phase

Not provided

Conditions

Pompe Disease

Interventions

Drawing blood spots from Newborns

Countries

Israel

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

Aug 2011

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Not yet recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 2011

Primary Completion Date

Sep 2013Estimated

Completion Date

Sep 2013Estimated

First Submitted Date

Jul 7, 2011

First Submission Date that Met QC Criteria

Aug 3, 2011

First Posted Date

Aug 4, 2011Estimated

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

Aug 3, 2011

Last Update Posted Date

Aug 4, 2011Estimated

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 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.

Detailed Description

Not provided

Conditions Module

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

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

No data available

No data is available for this block.

Enrollment

10,000Estimated

Arms/Interventions Module

Arm Groups

Not provided

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Drawing blood spots from Newborns	Other	Dry blood spots would be taken for determination of Alpha Glucosidase activity using LC-MS-MS

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

New born babies born during the study period

Exclusion Criteria:

Premature babies

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

2 Days

Maximum Age

7 Days

Standard Ages

Child

Study Population

10000 full-term newborns born in Northern Israel

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

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

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Rambam Health Care Campus		Haifa		31096	Israel

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