Pompe DiseasePOPS3NCT02746718
Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
A study testing Blood sample in people with Pompe Disease, run by Centre Hospitalier Universitaire de Nice at 21 sites in France.
Trial summary
A breach of respiratory function may be one of the elements more or less early or predominant clinical picture of neuromuscular diseases. It is considered that the obstructive syndromes represent 64% and restrictive or mixed syndromes 36% of chronic respiratory insufficiency, approximately 7% due to a neuromuscular… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pompe Disease
- What is being tested?
- Blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 21 sitesFrance
- Study dates
- 11 Dec 2015to 11 Dec 2019
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Presence of a CV <80% of predicted and / or <LIN
- Presence spirometry a report Tiffeneau (FEV / CV) equal to or higher than normal
- Signature of informed consent
- Men and women age ≥ 18 years
- Production of a medical examination
- Affiliated to social security
Who cannot join
- restrictive breath traumatic
- restrictive respiratory failure associated with parenchymal disorder, whether localized or diffuse
- known neuromuscular disease associated with a restrictive lung disease
- Patient under guardianship, curatorship, protected by law
- Inability to cooperate
- Morbid obesity with a BMI ≥40
Trial locations and contacts
21 sites in 1 country.
21 sites in 1 country
France21 sites
CHU d'Angers
Angers
Centre hospitalier d'Argenteuil
Argenteuil
CHU de Brest
Brest, 29609
CH d'Escartons
Briançon
CH de Cannes
Cannes
CHI de Créteil
Créteil, 94000
CHU le Bocage
Dijon
CHRU de Lille
Lille
CHU de Limoges
Limoges
Cabinet Dr Pereira-Cortese
Nice
CHU de Nice
Nice
GH Pitié Salpêtrière
Paris
Hôpital Raymond Poincaré
Paris
Hôpital Saint Louis
Paris
Hôpital Tenon
Paris
Polyclinique les Bleuets
Reims
CHU de Rouen
Rouen
CHU de St Etienne
Saint-Etienne, 94000
CHU de Toulouse
Toulouse
CHRU de Tours
Tours, 37044
Clinique Saint Joseph
Trélazé, 49800
About this study
A breach of respiratory function may be one of the elements more or less early or predominant clinical picture of neuromuscular diseases. It is considered that the obstructive syndromes represent 64% and restrictive or mixed syndromes 36% of chronic respiratory insufficiency, approximately 7% due to a neuromuscular disease. The frequency and type of impairment are dependent on the underlying pathology.
The neuromuscular restrictive respiratory failure (IRR) remains partially unknown pulmonologists, especially because the signs of muscle weakness are sometimes difficult to detect. However, respiratory diseases are a major concern in neuromuscular diseases because they can have an impact both on sleep (not sleep, ...) on the daily activities (breathlessness on exertion, dyspnea) and thereby alter the quality of life of patients. Moreover, they represent a significant morbidity and mortality factor. Chest tightness may in some cases reveal the disease and thus constitute the chief complaint of a patient with a neuromuscular disease. In late-onset Pompe disease, lung disease is the predominant clinical symptoms in about 30% of patients.
Read more
An algorithm was developed to guide practitioners and help them in their diagnostic approach to the cause of the IRR (diagnostic algorithm ATS / ERS 2005). However, this algorithm does not allow precise identification of the neuromuscular causes.
At the patient level, this can have an impact by extending the time before placing a diagnosis. In Pompe disease, the average time to diagnosis reached 7.9 years. However, there are for this disease a simple and rapid diagnostic test. Therefore, a greater awareness of practitioners with regard to the particular Pompe disease and neuromuscular diseases in general may be beneficial to patients.
This study aims to:
- awareness pulmonologists to the possibility of neuromuscular an IRR. ii) characterize the frequency of neuromuscular origin of IRR in a broad population of patients with concomitant signs muscle weakness. iii) reduce the time to diagnosis by directing patients to neuromuscular reference center early.
- Conditions
- Pompe Disease
- Being tested
- Blood sample
- 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 sampleOther
A blood sample for CPK dosage and pompe disease test
| Study group | Role | What they receive |
|---|---|---|
| Restrictive Respiratory Failure | Other | A CPK dosage, muscular questionnaires and a Pompe Disease test are practiced on patient with Restrictive Respiratory Failure without etiology Receives: Other: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of new cases of Pompe disease diagnosed by a positive DBS
Number of new cases of Pompe disease diagnosed by a positive DBS in patients with unexplained restriction pulmonaires.ries volumes, the patient is adressed to a specialist to dertermine etilogy of the muscular disease.
Measured: At the inclusion
Secondary outcomes (2)
Number of new cases and etiologies of neuromuscular diseases diagnosed in patients with unexplained restriction of lung volumes
If a patient have an high CPK rate or a blotter test positive for Pompe disease or a suspicion of muscular disease with the muscular questionnaires, the patient is addressed to a specialist to determine etiology of the muscular disease.
Measured: at 6 month
Frequency and description of neurological symptoms associated with neuromuscular diseases to respiratory revelation
If a patient have an high CPK rate or a suspicion of muscular disease with the muscular questionnaires, the patient is addressed to a specialist to determine etiology of the muscular disease.
Measured: at 6 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Apr 2016 (estimated)
- Study start11 Dec 2015
- Primary completion11 Dec 2019
- Study completion11 Dec 2019
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.
- 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
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sabrina Sacconi, Principal investigator, Centre Hospitalier Universitaire de Nice
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02746718
- Sponsor's protocol ID
- 14-PP-13
- Acronym
- POPS3
- Status last verified
- Mar 2018
- First submitted
- 12 Apr 2016
- Last updated
- 22 Mar 2023
- 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 22 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
- ClinicalTrials.gov ID
- NCT02746718
- Acronym / sponsor ID
- POPS3 / 14-PP-13
- Conditions
- Pompe Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 50 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 11 Dec 2015 (actual)
- Primary completion
- 11 Dec 2019 (actual)
- Study completion
- 11 Dec 2019 (actual)
- First posted
- 21 Apr 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.
A breach of respiratory function may be one of the elements more or less early or predominant clinical picture of neuromuscular diseases. It is considered that the obstructive syndromes represent 64% and restrictive or mixed syndromes 36% of chronic respiratory insufficiency, approximately 7% due to a neuromuscular disease. The frequency and type of impairment are dependent on the underlying pathology.
The neuromuscular restrictive respiratory failure (IRR) remains partially unknown pulmonologists, especially because the signs of muscle weakness are sometimes difficult to detect. However, respiratory diseases are a major concern in neuromuscular diseases because they can have an impact both on sleep (not sleep, ...) on the daily activities (breathlessness on exertion, dyspnea) and thereby alter the quality of life of patients. Moreover, they represent a significant morbidity and mortality factor. Chest tightness may in some cases reveal the disease and thus constitute the chief complaint of a patient with a neuromuscular disease. In late-onset Pompe disease, lung disease is the predominant clinical symptoms in about 30% of patients.
An algorithm was developed to guide practitioners and help them in their diagnostic approach to the cause of the IRR (diagnostic algorithm ATS / ERS 2005). However, this algorithm does not allow precise identification of the neuromuscular causes.
At the patient level, this can have an impact by extending the time before placing a diagnosis. In Pompe disease, the average time to diagnosis reached 7.9 years. However, there are for this disease a simple and rapid diagnostic test. Therefore, a greater awareness of practitioners with regard to the particular Pompe disease and neuromuscular diseases in general may be beneficial to patients.
This study aims to:
- awareness pulmonologists to the possibility of neuromuscular an IRR. ii) characterize the frequency of neuromuscular origin of IRR in a broad population of patients with concomitant signs muscle weakness. iii) reduce the time to diagnosis by directing patients to neuromuscular reference center early.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Restrictive Respiratory Failure | Other | Other: Blood sampleA CPK dosage, muscular questionnaires and a Pompe Disease test are practiced on patient with Restrictive Respiratory Failure without etiology |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Presence of a CV <80% of predicted and / or <LIN
- Presence spirometry a report Tiffeneau (FEV / CV) equal to or higher than normal
- Signature of informed consent
- Men and women age ≥ 18 years
- Production of a medical examination
Key exclusion criteria (6 listed)
- restrictive breath traumatic
- restrictive respiratory failure associated with parenchymal disorder, whether localized or diffuse
- known neuromuscular disease associated with a restrictive lung disease
- Patient under guardianship, curatorship, protected by law
- Inability to cooperate
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 sampleA blood sample for CPK dosage and pompe disease test | Other | Restrictive Respiratory Failure |
Primary outcome
Number of new cases of Pompe disease diagnosed by a positive DBS
Time frame: At the inclusion
Number of new cases of Pompe disease diagnosed by a positive DBS in patients with unexplained restriction pulmonaires.ries volumes, the patient is adressed to a specialist to dertermine etilogy of the muscular disease.
2 secondary outcomes
Number of new cases and etiologies of neuromuscular diseases diagnosed in patients with unexplained restriction of lung volumes
Time frame: at 6 month
Frequency and description of neurological symptoms associated with neuromuscular diseases to respiratory revelation
Time frame: at 6 month
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 22 Mar 2023.
- 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.
Sabrina Sacconi principal investigator
Centre Hospitalier Universitaire de Nice
21 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample in people with Pompe Disease, run by Centre Hospitalier Universitaire de Nice at 21 sites 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 6 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 22 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 21 sites 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?
Number of new cases of Pompe disease diagnosed by a positive DBS (time frame: At the inclusion). 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 22 Mar 2023.