Pompe DiseaseLC-MS-MSNCT01409486
Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
An observational study of Pompe Disease, run by Rambam Health Care Campus at 1 site in Israel.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 7 daysHealthy volunteers can take part
- Conditions the study is for
- Pompe Disease
- What is being tested?
- Drawing blood spots from Newborns
- How many people
- 10,000 participants
- Where
- 1 siteIsrael
- Study dates
- Sep 2011to Sep 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 7 days
- All sexes
- Healthy volunteers accepted
- Child
Study population: 10000 full-term newborns born in Northern Israel
Who may be able to join
- New born babies born during the study period
Who cannot join
- Premature babies
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Conditions
- Pompe Disease
- Being tested
- Drawing blood spots from Newborns
- 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
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Drawing blood spots from NewbornsOther
Dry blood spots would be taken for determination of Alpha Glucosidase activity using LC-MS-MS
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel
Measured: Two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Aug 2011 (estimated)
- Study startSep 2011
- Primary completionSep 2013 (estimated)
- Study completionSep 2013 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rambam Health Care Campus
- Sponsor type
- University, hospital or other
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01409486
- Sponsor's protocol ID
- 0290-09-RMB-CTIL
- Acronym
- LC-MS-MS
- Status last verified
- Aug 2011
- First submitted
- 7 Jul 2011
- Last updated
- 4 Aug 2011
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Aug 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry
- ClinicalTrials.gov ID
- NCT01409486
- Acronym / sponsor ID
- LC-MS-MS / 0290-09-RMB-CTIL
- 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
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 10,000 participants (estimated)
- Lead sponsor
- Rambam Health Care CampusUniversity, hospital or other
- Study start
- Sep 2011
- Primary completion
- Sep 2013 (estimated)
- Study completion
- Sep 2013 (estimated)
- First posted
- 4 Aug 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 2 to 7 days
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- 10000 full-term newborns born in Northern Israel
Key inclusion criteria (1 listed)
- New born babies born during the study period
Key exclusion criteria (1 listed)
- Premature babies
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Drawing blood spots from NewbornsDry blood spots would be taken for determination of Alpha Glucosidase activity using LC-MS-MS | Other | – |
Primary outcome
Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel
Time frame: Two years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Aug 2011.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by Rambam Health Care Campus at 1 site in Israel.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 4 Aug 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Hanna Mandel, Prof. (972-50-2062637, h_mandel@rambam.health.gov.il), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of the normal mean control value of Alpha glucosidase activity in Dry blood spots among Newborns in Israel (time frame: Two years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Aug 2011.