Rhabdomyolysis Linked to a Hereditary Disease of MetabolismEFFORHABNCT03802279
Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses
An observational study of Rhabdomyolysis Linked to a Hereditary Disease of Metabolism, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The prognosis of rhabdomyolyses related to hereditary diseases of metabolism is poor and treatments are only symptomatic. Rhabdomyolysis outbreaks are frequently precipitated by fever and fasting. They are unpredictable. Read more about this study
- Who is it for?
- Ages 6 to 75 years
- Conditions the study is for
- Rhabdomyolysis Linked to a Hereditary Disease of Metabolism
- What is being tested?
- Effort test and Functional tests on fibroblasts
- How many people
- 27 participants
- Where
- 1 siteFrance
- Study dates
- 25 Oct 2019to 31 Dec 2021
- 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 75 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The population to be studied consists of 40 patients with metabolic rhabdomyolyses followed by the centre of reference for metabolic diseases of the child and adult of the Necker Hospital.
Who may be able to join
- pathology characterized on the biochemical and molecular level
- patients who can make an effort test
- patients who benefited from a diagnostically targeted muscle biopsy with backup of myoblasts (group 1)
- patients who have benefited from a diagnostically targeted muscle biopsy but whose myoblasts are not available (group 2) Exclusion Criteria
- inability or refusal of compliance to the requirements of the research
- patients with contraindications for the effort test in particular heart failure and acute rhabdomyolysis
Show all 11Show fewer
- Patients without biochemical and/or molecular diagnosis
- Criteria for inclusion of witness patients :
- holders of parental authority and/or patients not opposed to the use of their cardio-respiratory analysis results for this study or to the use of their myoblasts for this study
- normal cardio-respiratory analysis results
- normal myoblasts (group 4).
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Study of the Correlation Between the Effort Test, With the Assessment of Peripheral Oxygen Consumption and Cardiac Output in Patients With Acute Rhabdomyolysis Related to a Hereditary Disease of Metabolism, and the Biochemical Flux on Myoblasts: Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses
The prognosis of rhabdomyolyses related to hereditary diseases of metabolism is poor and treatments are only symptomatic. Rhabdomyolysis outbreaks are frequently precipitated by fever and fasting. They are unpredictable. In spite of the care of patient in an intensive care unit, the occurrence of renal failure and heart rhythm disorders explains a significant acute-phase mortality rate. There is an urgent need to understand the pathophysiological mechanisms of rhabdomyolyses related to hereditary diseases of metabolism, in order to identify specific treatments.
Patients with rhabdomyolyses have few clinical signs outside of access. So there is a methodological difficulty in following a treatment test. There is an urgency to identify follow-up parameters in anticipation of new therapies.
The objective of this study is to validate the hypothesis that effort test and cardiac function parameters are usable in the treatment monitoring for patients with acute rhabdomyolysis linked to a hereditary disease of metabolism and thus propose the effort test as an assessment tool for future clinical trials. In order to do so, the correlation between the results of the effort tests, performed to each patient with rhabdomyolysis related to a hereditary disease of metabolism, with the severity of the disease will be evaluated. This study is original because it opens up innovative prospects for monitoring in the field of hereditary diseases of metabolism, with the identification of new monitoring tools.
Read the detailed description
Rhabdomyolysis is a poorly known symptom associated with the destruction of skeletal muscle cells. The diagnosis of rhabdomyolyses is carried when the dosage of muscle enzymes, in particular creatine phosphate kinase (KPC), is greater than 1000 U/L (normal < 160 U/L).
Rhabdomyolyses may be of viral origin, but fever and viruses are also triggers of genetic diseases. Also, the incidence of genetic rhabdomyolyses, representing 10 to 15% of all rhabdomyolyses, is underestimated. Genetic causes are heterogeneous. They are mainly attributed to hereditary diseases of metabolism, in particular fatty acid oxidation defects, Lipin-1 deficiency, muscle glycogenoses, TANGO2 deficiency, mitochondrial cytopathies and calcium channels anomalies of in particular RYR1.
Whatever the cause, traumatic, infectious or genetic, the rhabdomyolyses cause an alteration of the metabolism of adenosine triphosphate and a deregulation of the ionic channels, with the consequences of an intracytoplasmic calcium release and the destruction of muscle cells.
The prognosis of rhabdomyolyses related to hereditary diseases of metabolism is poor and treatments are only symptomatic. Rhabdomyolysis outbreaks are frequently precipitated by fever and fasting. They are unpredictable. In spite of the care of patient in an intensive care unit, the occurrence of renal failure and heart rhythm disorders explains a significant acute-phase mortality rate. There is an urgent need to understand the pathophysiological mechanisms of rhabdomyolyses related to hereditary diseases of metabolism, in order to identify specific treatments.
The pathophysiological mechanism of rhabdomyolyses related to Lipin-1 deficiency has been identified. Two patients with Lipin-1 deficiency treated in vivo by Hydroxychloroquine (Plaquenil ®, 6 mg/kg/day by one oral intake) rapidly standardized their serum inflammatory profile and corrected their clinical phenotype: Plasma creatine phosphokinase levels, Amount of mitochondrial DNA in plasma, number of myolyses, muscular pain, quality of life. One of these two patients, suffering from cardiac dysfunction already reported in Lipin-1 deficiency (left ventricular ejection fraction or LVEF 45%), significantly and durably improved cardiac function after one month of treatment (LVEF 62%). In addition, his fatigability and sleep disturbances have dramatically improved.
Disruption of mitophagy and immunity could be a common denominator for rhabdomyolyses linked to hereditary diseases of metabolism, which could, despite their heterogeneity, benefit from a common therapeutic approach, Now non-existent. There could be a role of inflammation in rhabdomyolyses outbreaks of metabolic origin and new therapeutic approaches could be imagined as in the Lipin-1 deficiency.
Patients with rhabdomyolyses have few clinical signs outside of access. So there is a methodological difficulty in following a treatment test. There is an urgency to identify follow-up parameters in anticipation of new therapies.
In the Lipin deficiency, an anomaly of the effort tests with measurement of oxygen consumption and cardiac output was characterized. These effort tests were carried out in the context of care, in order to recognize for a given patient whether the practice of sport is a factor triggering rhabdomyolysis.
The objective of this study is to validate the hypothesis that effort test and cardiac function parameters are usable in the treatment monitoring for patients with acute rhabdomyolysis linked to a hereditary disease of metabolism and thus propose the effort test as an assessment tool for future clinical trials. To date, no tests are available for clinical trials. In order to do so, the correlation between the results of the effort tests, performed to each patient with rhabdomyolysis related to a hereditary disease of metabolism, with the severity of the disease will be assessed, including:
- Metabolic flux on myoblasts, 2) clinical severity (onset of disease, number of rhabdomyolyses, cardiomyopathy), 3) genotype.
This study is original because it opens up innovative prospects for monitoring in the field of hereditary diseases of metabolism, with the identification of new monitoring tools.
- Being tested
- Effort test, Functional tests on fibroblasts
- Keywords
- Rhabdomyolysis linked to a hereditary disease of metabolism, Correlation between the effort test and the severity of the disease and biochemical flux on myoblasts
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Effort testOther
Cardiac function:
Echocardiography: left ventricular ejection fraction and global longitudinal strain will be measured.
Cardiopulmonary exercise test (CPET): left ventricular stroke volume was assessed noninvasively using a thoracic bioelectrical impedance device : maximal stroke volume at the peak of effort will be considered.
Peripheral muscle function:
- CPET: Oxygen uptake (VO2) (and carbon dioxide) output are measured. The slope of the relationship (dQ/dVO2) will be calculated between cardiac output (Q) and VO2 using measurements of Q (using measure of the stroke volume by thoracic bioelectrical impedance device) and VO2 at rest as well as during submaximal and maximal exercise
- Muscle oxygenation is measured using a near-infrared spectroscopy device.
- VO2 et Q will be measured : dQ/dVO2 is high in case of oxydation defect; If Q is low because of a concommittant cardiac impairement, the DAV = VO2/Q, and DO = (Q x DAV) / (200 - DAV) will be calculated.
Functional tests on fibroblastsOther
Functional tests performed on fibroblasts in primary culture, using as tracers of stable isotope-labeled substrates. The metabolites of interest are assayed in mass spectrometry.
| Study group | Role | What they receive |
|---|---|---|
| Rhabdomyolysis with myoblasts back up | Patients with a rhabdomyolysis linked to a hereditary disease of metabolism who have benefited from a diagnostically muscle biopsy and whose myoblasts are available.
Patients benefit from an effort test as part of their care. Receives: Other: Effort test; Other: Functional tests on fibroblasts | |
| Rhabdomyolysis | Patients with a rhabdomyolysis linked to a hereditary disease of metabolism who have benefited or not from a diagnostically muscle biopsy but whose myoblasts are not available.
Patients benefit from an effort test as part of their care. Receives: Other: Effort test | |
| Witness patients : effort test | 10 patient-matched healthy controls for age and sex having performed an effort test and cardiac exploration as part of their care. Receives: Other: Effort test | |
| Witness patients : myoblasts | 6 healthy controls matched by age and sex having performed a muscle biopsy as part of their care and whose myoblasts are kept. Receives: Other: Functional tests on fibroblasts |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of cardiac output (Q)
Effort test
Measured: Day 0
Measurement of oxygen consumption (VO2)
Effort test
Measured: Day 0
Calculation of the slope of the relationship heart rate-oxygen consumed (dQ/dVO2)
Effort test
Measured: Day 0
Calculation of the maximum arteriovenous difference (DAV) : DAV=VO2/Q
Effort test
Measured: Day 0
Calculation of maximum muscle diffusion (DM) using the equation of Fick: DM = (Q x DAV)/(200-DAV)
Effort test
Measured: Day 0
Peripheral muscular oxygenation
Measurement of peripheral muscular oxygenation during the effort test.
Measured: Day 0
Systolic ejection volume at the peak of the effort during the effort test
Evaluation of cardiac performance by the value of the systolic ejection volume at the peak of the effort.
The systolic ejection volume is measured beat per beat during the effort test.
Measured: Day 0
Ejection fraction of the left ventricle
Measurement of the ejection fraction of the left ventricle in Simpson biplane and the longitudinal strain of the left ventricle in echocardiography.
Measured: Day 0
Metabolic pathways of myoblasts
Myoblasts will be incubated in the presence of stable isotope-labeled tracers. The natural metabolites labelled with stable isotopes will be dosed. The acylcarnitines will be dosed on a mass spectrometer. The Krebs cycle intermediates will be measured in gas chromatography coupled with mass spectrometry.
Measured: From study start until 26 months
Secondary outcomes (4)
Presence of cardiomyopathy
Clinical severity of rhabdomyolysis linked to a hereditary disease of metabolism.
Measured: Day 0
Age of onset of disease (neonatal, < 2 years, 2 - 10 years, > 10 years)
Clinical severity of rhabdomyolysis linked to a hereditary disease of metabolism.
Measured: Day 0
Number of acute episodes of rhabdomyolyses
Clinical severity of rhabdomyolysis linked to a hereditary disease of metabolism.
Measured: Day 0
Character of mutations nonsense or missense of the hereditary disease of metabolism
Genotypic severity of rhabdomyolysis linked to a hereditary disease of metabolism.
Information available in the patient medical record.
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2019
- Study start25 Oct 2019
- Primary completion31 Dec 2021
- Study completion31 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Rhabdomyolysis Linked to a Hereditary Disease of MetabolismStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 27 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Pascale de Lonlay, Principal investigator, Assistance Publique - Hôpitaux de ParisAntoine Legendre, MD, PhD, Study chair, Assistance Publique - Hôpitaux de ParisFlorence Habarou, MD, PhD, Study chair, Assistance Publique - Hôpitaux de ParisCaroline Tuchmann-Durand, Pharm. D, PhD, Study chair, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03802279
- Sponsor's protocol ID
- APHP 180 009
- Other IDs
- 2018-A01771-54
- Acronym
- EFFORHAB
- Status last verified
- Sep 2025
- First submitted
- 6 Dec 2018
- Last updated
- 12 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Imbard A, de Calbiac H, Le Guillou E, Laforet P, Schiff M, Brassier A, Thevenet E, Pontoizeau C, Lefrere B, Ottolenghi C, Lebigot E, Gaignard P, Gobin S, Acquaviva-Bourdain C, Benoist JF, Tuchmann-Durand C, Legendre A, de Lonlay P. Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders. J Inherit Metab Dis. 2025 Jan;48(1):e12819. doi: 10.1002/jimd.12819. Epub 2024 Dec 9.
PubMed 39648745
Study at a glance
From the registry record, last updated by the sponsor on 12 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Correlation Between the Effort Test, With the Assessment of Peripheral Oxygen Consumption and Cardiac Output in Patients With Acute Rhabdomyolysis Related to a Hereditary Disease of Metabolism, and the Biochemical Flux on Myoblasts: Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses
- ClinicalTrials.gov ID
- NCT03802279
- Acronym / sponsor ID
- EFFORHAB / APHP 180 009
- Keywords
- Rhabdomyolysis linked to a hereditary disease of metabolism, Correlation between the effort test and the severity of the disease and biochemical flux on myoblasts
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 27 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 25 Oct 2019 (actual)
- Primary completion
- 31 Dec 2021 (actual)
- Study completion
- 31 Dec 2021 (actual)
- First posted
- 14 Jan 2019 (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.
The prognosis of rhabdomyolyses related to hereditary diseases of metabolism is poor and treatments are only symptomatic. Rhabdomyolysis outbreaks are frequently precipitated by fever and fasting. They are unpredictable. In spite of the care of patient in an intensive care unit, the occurrence of renal failure and heart rhythm disorders explains a significant acute-phase mortality rate. There is an urgent need to understand the pathophysiological mechanisms of rhabdomyolyses related to hereditary diseases of metabolism, in order to identify specific treatments.
Patients with rhabdomyolyses have few clinical signs outside of access. So there is a methodological difficulty in following a treatment test. There is an urgency to identify follow-up parameters in anticipation of new therapies.
The objective of this study is to validate the hypothesis that effort test and cardiac function parameters are usable in the treatment monitoring for patients with acute rhabdomyolysis linked to a hereditary disease of metabolism and thus propose the effort test as an assessment tool for future clinical trials. In order to do so, the correlation between the results of the effort tests, performed to each patient with rhabdomyolysis related to a hereditary disease of metabolism, with the severity of the disease will be evaluated. This study is original because it opens up innovative prospects for monitoring in the field of hereditary diseases of metabolism, with the identification of new monitoring tools.
Detailed description
Rhabdomyolysis is a poorly known symptom associated with the destruction of skeletal muscle cells. The diagnosis of rhabdomyolyses is carried when the dosage of muscle enzymes, in particular creatine phosphate kinase (KPC), is greater than 1000 U/L (normal < 160 U/L).
Rhabdomyolyses may be of viral origin, but fever and viruses are also triggers of genetic diseases. Also, the incidence of genetic rhabdomyolyses, representing 10 to 15% of all rhabdomyolyses, is underestimated. Genetic causes are heterogeneous. They are mainly attributed to hereditary diseases of metabolism, in particular fatty acid oxidation defects, Lipin-1 deficiency, muscle glycogenoses, TANGO2 deficiency, mitochondrial cytopathies and calcium channels anomalies of in particular RYR1.
Whatever the cause, traumatic, infectious or genetic, the rhabdomyolyses cause an alteration of the metabolism of adenosine triphosphate and a deregulation of the ionic channels, with the consequences of an intracytoplasmic calcium release and the destruction of muscle cells.
The prognosis of rhabdomyolyses related to hereditary diseases of metabolism is poor and treatments are only symptomatic. Rhabdomyolysis outbreaks are frequently precipitated by fever and fasting. They are unpredictable. In spite of the care of patient in an intensive care unit, the occurrence of renal failure and heart rhythm disorders explains a significant acute-phase mortality rate. There is an urgent need to understand the pathophysiological mechanisms of rhabdomyolyses related to hereditary diseases of metabolism, in order to identify specific treatments.
The pathophysiological mechanism of rhabdomyolyses related to Lipin-1 deficiency has been identified. Two patients with Lipin-1 deficiency treated in vivo by Hydroxychloroquine (Plaquenil ®, 6 mg/kg/day by one oral intake) rapidly standardized their serum inflammatory profile and corrected their clinical phenotype: Plasma creatine phosphokinase levels, Amount of mitochondrial DNA in plasma, number of myolyses, muscular pain, quality of life. One of these two patients, suffering from cardiac dysfunction already reported in Lipin-1 deficiency (left ventricular ejection fraction or LVEF 45%), significantly and durably improved cardiac function after one month of treatment (LVEF 62%). In addition, his fatigability and sleep disturbances have dramatically improved.
Disruption of mitophagy and immunity could be a common denominator for rhabdomyolyses linked to hereditary diseases of metabolism, which could, despite their heterogeneity, benefit from a common therapeutic approach, Now non-existent. There could be a role of inflammation in rhabdomyolyses outbreaks of metabolic origin and new therapeutic approaches could be imagined as in the Lipin-1 deficiency.
Patients with rhabdomyolyses have few clinical signs outside of access. So there is a methodological difficulty in following a treatment test. There is an urgency to identify follow-up parameters in anticipation of new therapies.
In the Lipin deficiency, an anomaly of the effort tests with measurement of oxygen consumption and cardiac output was characterized. These effort tests were carried out in the context of care, in order to recognize for a given patient whether the practice of sport is a factor triggering rhabdomyolysis.
The objective of this study is to validate the hypothesis that effort test and cardiac function parameters are usable in the treatment monitoring for patients with acute rhabdomyolysis linked to a hereditary disease of metabolism and thus propose the effort test as an assessment tool for future clinical trials. To date, no tests are available for clinical trials. In order to do so, the correlation between the results of the effort tests, performed to each patient with rhabdomyolysis related to a hereditary disease of metabolism, with the severity of the disease will be assessed, including:
- Metabolic flux on myoblasts, 2) clinical severity (onset of disease, number of rhabdomyolyses, cardiomyopathy), 3) genotype.
This study is original because it opens up innovative prospects for monitoring in the field of hereditary diseases of metabolism, with the identification of new monitoring tools.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Rhabdomyolysis with myoblasts back up | – | Other: Effort test, Other: Functional tests on fibroblastsPatients with a rhabdomyolysis linked to a hereditary disease of metabolism who have benefited from a diagnostically muscle biopsy and whose myoblasts are available. Patients benefit from an effort test as part of their care. |
| Rhabdomyolysis | – | Other: Effort testPatients with a rhabdomyolysis linked to a hereditary disease of metabolism who have benefited or not from a diagnostically muscle biopsy but whose myoblasts are not available. Patients benefit from an effort test as part of their care. |
| Witness patients : effort test | – | Other: Effort test10 patient-matched healthy controls for age and sex having performed an effort test and cardiac exploration as part of their care. |
| Witness patients : myoblasts | – | Other: Functional tests on fibroblasts6 healthy controls matched by age and sex having performed a muscle biopsy as part of their care and whose myoblasts are kept. |
Who may qualify
- Ages
- 6 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The population to be studied consists of 40 patients with metabolic rhabdomyolyses followed by the centre of reference for metabolic diseases of the child and adult of the Necker Hospital.
Key inclusion criteria (11 listed)
- pathology characterized on the biochemical and molecular level
- patients who can make an effort test
- patients who benefited from a diagnostically targeted muscle biopsy with backup of myoblasts (group 1)
- patients who have benefited from a diagnostically targeted muscle biopsy but whose myoblasts are not available (group 2) Exclusion Criteria
- inability or refusal of compliance to the requirements of the research
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| Effort testCardiac function: Echocardiography: left ventricular ejection fraction and global longitudinal strain will be measured. Cardiopulmonary exercise test (CPET): left ventricular stroke volume was assessed noninvasively using a thoracic bioelectrical impedance device : maximal stroke volume at the peak of effort will be considered. Peripheral muscle function: * CPET: Oxygen uptake (VO2) (and carbon dioxide) output are measured. The slope of the relationship (dQ/dVO2) will be calculated between cardiac output (Q) and VO2 using measurements of Q (using measure of the stroke volume by thoracic bioelectrical impedance device) and VO2 at rest as well as during submaximal and maximal exercise * Muscle oxygenation is measured using a near-infrared spectroscopy device. * VO2 et Q will be measured : dQ/dVO2 is high in case of oxydation defect; If Q is low because of a concommittant cardiac impairement, the DAV = VO2/Q, and DO = (Q x DAV) / (200 - DAV) will be calculated. | Other | Rhabdomyolysis, Rhabdomyolysis with myoblasts back up, Witness patients : effort test |
| Functional tests on fibroblastsFunctional tests performed on fibroblasts in primary culture, using as tracers of stable isotope-labeled substrates. The metabolites of interest are assayed in mass spectrometry. | Other | Rhabdomyolysis with myoblasts back up, Witness patients : myoblasts |
Primary outcome
Measurement of cardiac output (Q)
Time frame: Day 0
Effort test
Measurement of oxygen consumption (VO2)
Time frame: Day 0
Effort test
Calculation of the slope of the relationship heart rate-oxygen consumed (dQ/dVO2)
Time frame: Day 0
Effort test
Calculation of the maximum arteriovenous difference (DAV) : DAV=VO2/Q
Time frame: Day 0
Effort test
Calculation of maximum muscle diffusion (DM) using the equation of Fick: DM = (Q x DAV)/(200-DAV)
Time frame: Day 0
Effort test
Peripheral muscular oxygenation
Time frame: Day 0
Measurement of peripheral muscular oxygenation during the effort test.
Systolic ejection volume at the peak of the effort during the effort test
Time frame: Day 0
Evaluation of cardiac performance by the value of the systolic ejection volume at the peak of the effort. The systolic ejection volume is measured beat per beat during the effort test.
Ejection fraction of the left ventricle
Time frame: Day 0
Measurement of the ejection fraction of the left ventricle in Simpson biplane and the longitudinal strain of the left ventricle in echocardiography.
Metabolic pathways of myoblasts
Time frame: From study start until 26 months
Myoblasts will be incubated in the presence of stable isotope-labeled tracers. The natural metabolites labelled with stable isotopes will be dosed. The acylcarnitines will be dosed on a mass spectrometer. The Krebs cycle intermediates will be measured in gas chromatography coupled with mass spectrometry.
4 secondary outcomes
Presence of cardiomyopathy
Time frame: Day 0
Age of onset of disease (neonatal, < 2 years, 2 - 10 years, > 10 years)
Time frame: Day 0
Number of acute episodes of rhabdomyolyses
Time frame: Day 0
Character of mutations nonsense or missense of the hereditary disease of metabolism
Time frame: Day 0
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 12 Sep 2025.
- Results publication: PubMed 39648745Imbard A, de Calbiac H, Le Guillou E, Laforet P, Schiff M, Brassier A, Thevenet E, Pontoizeau C, Lefrere B, Ottolenghi C, Lebigot E, Gaignard P, Gobin S, Acquaviva-Bourdain C, Benoist JF, Tuchmann-Durand C, Legendre A, de Lonlay P. Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders. J Inherit Metab Dis. 2025 Jan;48(1):e12819. doi: 10.1002/jimd.12819. Epub 2024 Dec 9.
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.
Pascale de Lonlay principal investigator
Assistance Publique - Hôpitaux de Paris
Antoine Legendre, MD, PhD study chair
Assistance Publique - Hôpitaux de Paris
Florence Habarou, MD, PhD study chair
Assistance Publique - Hôpitaux de Paris
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 Rhabdomyolysis Linked to a Hereditary Disease of Metabolism, run by Assistance Publique - Hôpitaux de Paris 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 11 inclusion and 0 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 12 Sep 2025. 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?
Measurement of cardiac output (Q) (time frame: Day 0). The study lists 9 primary outcomes in all. 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 NCT03802279, which also lists 1 linked publication.
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 12 Sep 2025.