Pompe's DiseasePOPSNCT00830583
Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
A study testing blood test in people with Pompe's Disease, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial summary
An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Pompe's Disease
- What is being tested?
- blood test
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 400 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2009to Oct 2011
- Phase
- Interventional
- 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 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Age ≥ 8 years
- The patient and/or the patient's legal representative has given their informed consent in writing before any study procedure is initiated
- Patient with :
- Limb girdle muscle weakness or axial weakness And/Or Respiratory insufficiency,With unknown etiology
- Sporadic or familial case compatible with a autosomal recessive disorder
- Patient with muscular biopsy (and specific immunologic analyses) without diagnosis.
Who cannot join
- Patient with a confirmed and documented diagnosis of an etiologic muscular disease determined by the histological analysis (described in appendix 6) that must have been performed on muscle biopsy.
- Patient familial background known with a X-link or a dominant transmission
- Patient who have had confirmation of a Pompe disease by biochemical analysis and/or by molecular biology
- Patient for whom an GAA enzymatic activity has already been performed and for which the result was normal.
Trial locations and contacts
1 site in 1 country.
About this study
An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice.
The aim is evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.
Read the detailed description
In Pompe disease, deficiency of the enzyme acid alpha-glucosidase (GAA) results in accumulation of glycogen within the lyososomes of numerous tissues and cell types especially in muscular cells.
Pompe disease is pan ethnic (but with increased prevalence in the afro-American and Chinese population). Pompe disease is rare with an estimated incidence of 1 in 40,000 births. In France so far, a hundred patients have been diagnosed. The difference of results between the epidemiologic studies published and the number of French patients diagnosed is caused by an under-diagnostic of this pathology, very rare and unknown.
The late onset type of the disease (from childhood to adult) is revealed by progressive muscle weakness generally beginning in proximal muscles of the legs. Respiratory muscle weakness is often the cause of death among patients having respiratory insufficiency.
Recognizing Pompe disease can be challenging, as signs and symptoms may be shared with other disorders (limb girdle muscular dystrophy, dystrophinopathy or inflammatory myopathy).
Muscle biopsies are often used to measure GAA activity and for histology in patients with muscle weakness. But glycogen accumulation in the muscles of patients varies with biopsy site, so the diagnosis of Pompe disease can be missed by using only a muscle biopsy. Fibroblasts can also serve as a source of material for research but cell culture facilities are not easy for clinicians and it takes several weeks to obtain confluent cultures. Then, assays that use blood to diagnose Pompe disease were developed. Therefore, a group of international clinicians and biologists met together in London in December 2006 and established an agreement concerning the various methods of this enzyme dosage. Recently, a test on a DBS (dried blood spot) has been developed. This test is not invasive, easy to collect and transport, requires small sample volume and provides rapid results. This international consensual group recommends confirming the diagnosis of the Pompe disease after a DBS with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice.
- Conditions
- Pompe's Disease
- Being tested
- blood test
- 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.
blood testProcedure or surgery
There is only a blood test at the beginning.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Other | pompe's disease suspected patient Receives: Procedure: blood test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.
Measured: during the first and the only visit
Secondary outcomes (2)
Evaluate the relative sensibility of the diagnosis in the Pompe disease by muscular biopsy with histological methods (PAS and acid phosphatase).
Measured: during the first and the only visit
Define the various methods of diagnosis for the Pompe Disease.
Measured: during the first and the only visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2009 (estimated)
- Study startJan 2009
- Primary completionOct 2011
- Study completionOct 2011
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.
- More trials run by Centre Hospitalier Universitaire de NiceThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Claude Desnuelle, Principal investigator, Centre Hospitalier Universitaire de Nice
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00830583
- Sponsor's protocol ID
- 08-PP-02
- Acronym
- POPS
- Status last verified
- Jan 2009
- First submitted
- 27 Jan 2009
- Last updated
- 8 Dec 2011
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Dec 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis
- ClinicalTrials.gov ID
- NCT00830583
- Acronym / sponsor ID
- POPS / 08-PP-02
- Conditions
- Pompe's Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- Jan 2009
- Primary completion
- Oct 2011 (actual)
- Study completion
- Oct 2011 (actual)
- First posted
- 28 Jan 2009 (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.
An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice.
The aim is evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.
Detailed description
In Pompe disease, deficiency of the enzyme acid alpha-glucosidase (GAA) results in accumulation of glycogen within the lyososomes of numerous tissues and cell types especially in muscular cells.
Pompe disease is pan ethnic (but with increased prevalence in the afro-American and Chinese population). Pompe disease is rare with an estimated incidence of 1 in 40,000 births. In France so far, a hundred patients have been diagnosed. The difference of results between the epidemiologic studies published and the number of French patients diagnosed is caused by an under-diagnostic of this pathology, very rare and unknown.
The late onset type of the disease (from childhood to adult) is revealed by progressive muscle weakness generally beginning in proximal muscles of the legs. Respiratory muscle weakness is often the cause of death among patients having respiratory insufficiency.
Recognizing Pompe disease can be challenging, as signs and symptoms may be shared with other disorders (limb girdle muscular dystrophy, dystrophinopathy or inflammatory myopathy).
Muscle biopsies are often used to measure GAA activity and for histology in patients with muscle weakness. But glycogen accumulation in the muscles of patients varies with biopsy site, so the diagnosis of Pompe disease can be missed by using only a muscle biopsy. Fibroblasts can also serve as a source of material for research but cell culture facilities are not easy for clinicians and it takes several weeks to obtain confluent cultures. Then, assays that use blood to diagnose Pompe disease were developed. Therefore, a group of international clinicians and biologists met together in London in December 2006 and established an agreement concerning the various methods of this enzyme dosage. Recently, a test on a DBS (dried blood spot) has been developed. This test is not invasive, easy to collect and transport, requires small sample volume and provides rapid results. This international consensual group recommends confirming the diagnosis of the Pompe disease after a DBS with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | Other | Procedure: blood testpompe's disease suspected patient |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Age ≥ 8 years
- The patient and/or the patient's legal representative has given their informed consent in writing before any study procedure is initiated
- Patient with :
- Limb girdle muscle weakness or axial weakness And/Or Respiratory insufficiency,With unknown etiology
- Sporadic or familial case compatible with a autosomal recessive disorder
Key exclusion criteria (4 listed)
- Patient with a confirmed and documented diagnosis of an etiologic muscular disease determined by the histological analysis (described in appendix 6) that must have been performed on muscle biopsy.
- Patient familial background known with a X-link or a dominant transmission
- Patient who have had confirmation of a Pompe disease by biochemical analysis and/or by molecular biology
- Patient for whom an GAA enzymatic activity has already been performed and for which the result was normal.
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 |
|---|---|---|
| blood testThere is only a blood test at the beginning. | Procedure or surgery | 1 |
Primary outcome
Evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.
Time frame: during the first and the only visit
2 secondary outcomes
Evaluate the relative sensibility of the diagnosis in the Pompe disease by muscular biopsy with histological methods (PAS and acid phosphatase).
Time frame: during the first and the only visit
Define the various methods of diagnosis for the Pompe Disease.
Time frame: during the first and the only visit
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 8 Dec 2011.
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Pompe Disease
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.
Claude Desnuelle principal investigator
Centre Hospitalier Universitaire de Nice
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood test in people with Pompe's Disease, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
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 6 inclusion and 4 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 8 Dec 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 France. 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?
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?
Evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS. (time frame: during the first and the only visit). 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 8 Dec 2011.