Pompe DiseasePOEMNCT05092230
Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)
An observational study of Pompe Disease, run by University Hospital Center of Martinique at 1 site in Martinique.
Trial summary
Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all cells but with a more marked expression in muscle cells. Read more about this study
- Who is it for?
- Ages 6 to 80 years
- Conditions the study is for
- Pompe Disease
- How many people
- 100 participants
- Where
- 1 siteMartinique
- Study dates
- 1 Nov 2021to 1 Sep 2023
- 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 6 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient 6 to 80 years of age or consulting for the first time or followed at CERCA Martinique with permanent myalgia, spontaneous or on effort,
Who may be able to join
- • both sexes
- with permanent myalgia, spontaneous or on effort,
- with or without muscle deficit,
- with or without HyperCkemia
- without known etiologies
- Age from 6 to 80 years
Show all 9Show fewer
- consulting for the first time or followed at CERCA
- giving their free and informed consent to participate after information on the research
- Affiliated to the social security system
Who cannot join
- Person placed under guardianship and/or curatorship
- Myalgias related to a known etiology
Trial locations and contacts
1 site in 1 country.
Martinique1 site, 1 recruiting
- Recruiting
CHU de Martinique
Fort-de-France
Sophie DUCLOS, MD, +596596552264, sophie.duclos@chu-martinique.Fr
About this study
Official title: Frequency of Pompe Disease in Patients Followed at CERCA for Myalgia With or Without Hyper Ckemia
Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all cells but with a more marked expression in muscle cells. There is a great variability in the clinical manifestations and in the age of onset of symptoms depending on whether the enzyme deficiency is partial or total. The prevalence is estimated at 1 in 40,000. There is a specific treatment based on enzyme replacement therapy
Read the detailed description
Patients include: clinical examination, enzyme activity assay, muscle testing, cardiological and respiratory workup. Lowered enzyme activity suggests a pathogenic genetic variant to be identified. The secondary objective is to propose genetic counselling and a family investigation in order to identify relatives who are also affected.
- Conditions
- Pompe Disease
- Keywords
- frequency,, MARTINIQUE, observational study, myalgia, reference center for rare diseases
- Medical subject headings
- Glycogen Storage Disease Type II, Myalgia
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary outcome measure
To estimate the frequency of Pompe's disease in men and women with permanent, spontaneous or exertional myalgia consulting for the first time or followed in our center. This criterion will be evaluated by biochemical and genetic analyses. Improvement of diagnostic deficiency and genetic counseling is envisaged. A discussion could be opened for these patients regarding the application of enzyme replacement therapy.
Measured: The recruitment will take place in our specialized center for the management and follow-up of patients with neuromuscular pathology. A total of 100 patients are likely to be included in the study during the years 2020-2022
Secondary outcomes (9)
Muscle testing
- Muscle Testing using Medical Research Counsil scale (MRC scale, total score ranging from 0 to 5)
Measured: 2 years
Cardiological check-up
- ECG : QRS Complex and short PR space (milliseconde)
Measured: 2 years
Respiratory check-up
- Chest radiography (non mesurable)
Measured: 2 years
Genetic counselling activity
- Genetic counseling appointment (non mesurable)
Measured: 2 years
Muscle testing
- 6-minute walk test (number of metres in 6 minutes)
Measured: 2 years
Muscle testing
motor function scale (french " MFM ") (32 items rated on a 4-point Likert scale)
Measured: 2 years
Muscle testing
ElectroNeuroMyogram (ENMG) with measurement of nerve conduction velocities (m/s)
Measured: 2 years
Cardiological check-up
- Holter-ECG during 24h : heart rhythm abnormality (beat per minute)
Measured: 2 years
Cardiological check-up
Measurement of Brain Natriuretic Peptid (BNP) (ng/L)
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Oct 2021
- Study start1 Nov 2021 (estimated)
- Primary completion1 Sep 2023 (estimated)
- Study completion1 Sep 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- 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
- Case only
- Time perspective
- Retrospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital Center of Martinique
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05092230
- Sponsor's protocol ID
- POEM
- Acronym
- POEM
- Status last verified
- Oct 2021
- First submitted
- 23 Aug 2021
- Last updated
- 29 Oct 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W, Schoser B. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.
PubMed 27170567Taisne N, Desnuelle C, Juntas Morales R, Ferrer Monasterio X, Sacconi S, Duval F, Sole G, Flipo RM, Lacour A, Vermersch P, Cardon T. Bent spine syndrome as the initial symptom of late-onset Pompe disease. Muscle Nerve. 2017 Jul;56(1):167-170. doi: 10.1002/mus.25478. Epub 2016 Nov 30.
PubMed 27862019
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency of Pompe Disease in Patients Followed at CERCA for Myalgia With or Without Hyper Ckemia
- ClinicalTrials.gov ID
- NCT05092230
- Acronym / sponsor ID
- POEM / POEM
- Conditions
- Pompe Disease
- Keywords
- frequency,, MARTINIQUE, observational study, myalgia, reference center for rare diseases
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital Center of MartiniqueUniversity, hospital or other
- Study start
- 1 Nov 2021 (estimated)
- Primary completion
- 1 Sep 2023 (estimated)
- Study completion
- 1 Sep 2023 (estimated)
- First posted
- 25 Oct 2021 (actual)
- 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.
Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all cells but with a more marked expression in muscle cells. There is a great variability in the clinical manifestations and in the age of onset of symptoms depending on whether the enzyme deficiency is partial or total. The prevalence is estimated at 1 in 40,000. There is a specific treatment based on enzyme replacement therapy
Detailed description
Patients include: clinical examination, enzyme activity assay, muscle testing, cardiological and respiratory workup. Lowered enzyme activity suggests a pathogenic genetic variant to be identified. The secondary objective is to propose genetic counselling and a family investigation in order to identify relatives who are also affected.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 6 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient 6 to 80 years of age or consulting for the first time or followed at CERCA Martinique with permanent myalgia, spontaneous or on effort,
Key inclusion criteria (9 listed)
- • both sexes
Key exclusion criteria (2 listed)
- Person placed under guardianship and/or curatorship
- Myalgias related to a known etiology
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Primary outcome measure
Time frame: The recruitment will take place in our specialized center for the management and follow-up of patients with neuromuscular pathology. A total of 100 patients are likely to be included in the study during the years 2020-2022
To estimate the frequency of Pompe's disease in men and women with permanent, spontaneous or exertional myalgia consulting for the first time or followed in our center. This criterion will be evaluated by biochemical and genetic analyses. Improvement of diagnostic deficiency and genetic counseling is envisaged. A discussion could be opened for these patients regarding the application of enzyme replacement therapy.
9 secondary outcomes
Muscle testing
Time frame: 2 years
Cardiological check-up
Time frame: 2 years
Respiratory check-up
Time frame: 2 years
Genetic counselling activity
Time frame: 2 years
Muscle testing
Time frame: 2 years
Muscle testing
Time frame: 2 years
Muscle testing
Time frame: 2 years
Cardiological check-up
Time frame: 2 years
Cardiological check-up
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2021.
- Background: PubMed 27170567Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W, Schoser B. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.
- Background: PubMed 27862019Taisne N, Desnuelle C, Juntas Morales R, Ferrer Monasterio X, Sacconi S, Duval F, Sole G, Flipo RM, Lacour A, Vermersch P, Cardon T. Bent spine syndrome as the initial symptom of late-onset Pompe disease. Muscle Nerve. 2017 Jul;56(1):167-170. doi: 10.1002/mus.25478. Epub 2016 Nov 30.
- 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.
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 University Hospital Center of Martinique at 1 site in Martinique.
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 9 inclusion and 2 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 29 Oct 2021. 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 Martinique. 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 Cédric Contaret (+596 596 552411, cedric.contaret@chu-martinique.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary outcome measure (time frame: The recruitment will take place in our specialized center for the management and follow-up of patients with neuromuscular pathology. A total of 100 patients are likely to be included in the study during the years 2020-2022). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05092230, which also lists 2 linked publications.
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 29 Oct 2021.