Pompe's DiseaseDEPIPOMP1NCT02904395
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
An observational study of Pompe's Disease, run by Centre Hospitalier de Cayenne.
Trial summary
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the muscular and cardiac symptoms appear. Read more about this study
- Who is it for?
- Ages Up to 2 days
- Conditions the study is for
- Pompe's Disease
- How many people
- 3,413 participants
- Where
- No sites listed yet
- Study dates
- Apr 2014to Aug 2015
- 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 Up to 2 days
- All sexes
- No healthy volunteers
- Child
Study population: newborns
Who may be able to join
- newborn
Who cannot join
- parent refusal
About this study
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the muscular and cardiac symptoms appear.
- Conditions
- Pompe's Disease
- Being tested
- observational (no intervention)
- 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.
observational (no intervention)Other
What is being measured
The primary outcome is the main question the study is designed to answer.
acid maltase activity
The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.
Measured: At birth
Signature mutation for pompe's disease
The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.
Measured: At birth
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2016 (estimated)
- Study startApr 2014
- Primary completionApr 2014
- Study completionAug 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe's 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
- Time perspective
- Cross-sectional
- Enrolment
- 3,413 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier de Cayenne
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02904395
- Sponsor's protocol ID
- DEPIPOMP1
- Acronym
- DEPIPOMP1
- Status last verified
- Sep 2016
- First submitted
- 6 Sep 2016
- Last updated
- 19 Sep 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Sep 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
- ClinicalTrials.gov ID
- NCT02904395
- Acronym / sponsor ID
- DEPIPOMP1 / DEPIPOMP1
- Conditions
- Pompe's Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,413 participants (actual)
- Lead sponsor
- Centre Hospitalier de CayenneUniversity, hospital or other
- Study start
- Apr 2014
- Primary completion
- Apr 2014 (actual)
- Study completion
- Aug 2015 (actual)
- First posted
- 19 Sep 2016 (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.
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the muscular and cardiac symptoms appear.
Study design
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- Up to 2 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- newborns
Key inclusion criteria (1 listed)
- newborn
Key exclusion criteria (1 listed)
- parent refusal
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 |
|---|---|---|
| observational (no intervention) | Other | – |
Primary outcome
acid maltase activity
Time frame: At birth
The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.
Signature mutation for pompe's disease
Time frame: At birth
The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Sep 2016.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe's Disease, run by Centre Hospitalier de Cayenne.
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: finished, as of the sponsor's last update on 19 Sep 2016. Status can change between updates, so confirm with the study contact before making plans.
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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
acid maltase activity (time frame: At birth). The study lists 2 primary outcomes in all. 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 19 Sep 2016.