Inborn Errors of MetabolismNCT00328159
Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids
A study testing Oil special 107 and MYGLIOL 810 in people with Inborn Errors of Metabolism, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies: limitation of lipid intake in the diet; supplementation of the diet with medium-chain triglycerides (MCT) for patients affected with disorders of long-chain FAO; some specific supplementations (for example… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Inborn Errors of Metabolism
- What is being tested?
- Oil special 107 and MYGLIOL 810
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2006to Jun 2010
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient with an enzyme deficiency of carnitine palmitoyltransferase 1 (CPT1), carnitine-acylcarnitine translocase (CAT), carnitine palmitoyltransferase 2 (CPT2), very-long chain acyl-CoA dehydrogenase (VLCAD), L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (MTP).
- Covered by health and social insurance
- Written informed consent
Who cannot join
- Patient affected with FAO dysfunction secondary to other cause (e.g. mitochondrial respiratory chain disorders)
- Patient with suspected FAO disorder that has not been proven (by enzymatic or molecular test)
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Dietary Therapy of Mitochondrial Fatty Acids Oxidation. A Clinical Study of Treatment With Odd Carbons Medium-chain Fatty Acids
Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies:
- limitation of lipid intake in the diet;
- supplementation of the diet with medium-chain triglycerides (MCT) for patients affected with disorders of long-chain FAO;
- some specific supplementations (for example, L-carnitine).
These strategies are often ineffective. The aim of the present study is to evaluate new therapeutic ways based on the underlying energetic defect observed in these disorders. The long-term goal is to develop efficient therapies of these disorders.
Read the detailed description
The main specific aim of this study will be to determine the efficiency of odd-chain MCT: TRIHEPTANOIN (Tri-C7) and its metabolites, BETA-HYDROXYPENTANOATE (BHP) and BETA-KETOPENTANOATE (BKP), as potential treatments by orale or enteral routes. These compounds are efficiently used for energy production, despite long-chain FAO enzyme defects. They use alternative metabolic pathways and have anaplerotic effects due to propionyl-CoA production by the thiolytic cleavage of odd carbon ketone bodies.
The efficiency of these compounds will be compared with conventional diet (MCT) for each patient. Because of frequent phenotypic variations observed for each of these diseases, each patient will be his own control.
The same protocol study will be followed in 2 centers: Dallas, USA (main investigator: Dr CR Roe) and Paris, France (main investigator: Dr G TOUATI). It is planned to include 80 patients (60 in Dallas, 20 in Paris), during the next 2 years. The patients will be affected with 6 proven defects that are specific defects of long-chain FAO: carnitine palmitoyltransferase 1 (CPT1), carnitine-acylcarnitine translocase (CAT), carnitine palmitoyltransferase 2 (CPT2), very-long chain acyl-CoA dehydrogenase (VLCAD), L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (MTP).
The used methodology will be a control randomized study to compare the efficiency of 2 diet therapies: TRIHEPTANOIN versus conventional MCT. The studied parameters will depend on each disease and will depend on the affected organs in each patient. Main studied clinical parameters will be: survival rate, number of metabolic acute decompensation, frequency and severity of hypoglycemias, frequency and severity of rhabdomyolyses, evolution of cardiac or hepatic manifestations, muscular strength, and quality of life. Main studied biological parameters will be: TRIHEPTANOIN use during meal tests, modifications of plasma acylcarnitines profile, modifications of urinary organic acids, blood measurements of CPK and transaminases. Cardiac echographies will be performed for the follow-up of cardiomyopathies, ergometric testing and strength tests will be performed for disorders that affect muscular function.
- Conditions
- Inborn Errors of Metabolism
- Being tested
- Oil special 107 and MYGLIOL 810
- Keywords
- FAO disorders, long-chain FAO enzyme defects, inborn errors of metabolism, carnitine palmitoyltransferase 1 (CPT1),, carnitine-acylcarnitine translocase (CAT),, carnitine palmitoyltransferase 2 (CPT2),, very-long chain acyl-CoA dehydrogenase (VLCAD),, L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD), or trifunctional protein (MTP).
- Medical subject headings
- Metabolism, Inborn Errors, VLCAD deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Oil special 107 and MYGLIOL 810Drug
What is being measured
The primary outcome is the main question the study is designed to answer.
Strength tests
Measured: 24 months
Biological parameters (acylcarnitines profile, modifications of urinary organic acids)
Measured: 24 months
Clinical parameters (echocardiography)
Measured: 24 months
Secondary outcomes (4)
Ergometric testing
Measured: 24 months
Hepatic functions
Measured: 24 months
Hypoglycaemia
Measured: 24 months
Rhabdomyolyses
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2006 (estimated)
- Study startJun 2006
- Primary completionJun 2010
- Study completionJun 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inborn Errors 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Double blind
- Who is masked
- Participant, Investigator
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Investigators
- Guy Touati, PU-PH, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00328159
- Sponsor's protocol ID
- P030435
- Status last verified
- Mar 2007
- First submitted
- 18 May 2006
- Last updated
- 17 Feb 2011
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 17 Feb 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dietary Therapy of Mitochondrial Fatty Acids Oxidation. A Clinical Study of Treatment With Odd Carbons Medium-chain Fatty Acids
- ClinicalTrials.gov ID
- NCT00328159
- Acronym / sponsor ID
- P030435
- Conditions
- Inborn Errors of Metabolism
- Keywords
- FAO disorders, long-chain FAO enzyme defects, inborn errors of metabolism, carnitine palmitoyltransferase 1 (CPT1),, carnitine-acylcarnitine translocase (CAT),, carnitine palmitoyltransferase 2 (CPT2),, very-long chain acyl-CoA dehydrogenase (VLCAD),, L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD)
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Jun 2006
- Primary completion
- Jun 2010 (actual)
- Study completion
- Jun 2010 (actual)
- First posted
- 19 May 2006 (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.
Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies:
- limitation of lipid intake in the diet;
- supplementation of the diet with medium-chain triglycerides (MCT) for patients affected with disorders of long-chain FAO;
- some specific supplementations (for example, L-carnitine).
These strategies are often ineffective. The aim of the present study is to evaluate new therapeutic ways based on the underlying energetic defect observed in these disorders. The long-term goal is to develop efficient therapies of these disorders.
Detailed description
The main specific aim of this study will be to determine the efficiency of odd-chain MCT: TRIHEPTANOIN (Tri-C7) and its metabolites, BETA-HYDROXYPENTANOATE (BHP) and BETA-KETOPENTANOATE (BKP), as potential treatments by orale or enteral routes. These compounds are efficiently used for energy production, despite long-chain FAO enzyme defects. They use alternative metabolic pathways and have anaplerotic effects due to propionyl-CoA production by the thiolytic cleavage of odd carbon ketone bodies.
The efficiency of these compounds will be compared with conventional diet (MCT) for each patient. Because of frequent phenotypic variations observed for each of these diseases, each patient will be his own control.
The same protocol study will be followed in 2 centers: Dallas, USA (main investigator: Dr CR Roe) and Paris, France (main investigator: Dr G TOUATI). It is planned to include 80 patients (60 in Dallas, 20 in Paris), during the next 2 years. The patients will be affected with 6 proven defects that are specific defects of long-chain FAO: carnitine palmitoyltransferase 1 (CPT1), carnitine-acylcarnitine translocase (CAT), carnitine palmitoyltransferase 2 (CPT2), very-long chain acyl-CoA dehydrogenase (VLCAD), L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (MTP).
The used methodology will be a control randomized study to compare the efficiency of 2 diet therapies: TRIHEPTANOIN versus conventional MCT. The studied parameters will depend on each disease and will depend on the affected organs in each patient. Main studied clinical parameters will be: survival rate, number of metabolic acute decompensation, frequency and severity of hypoglycemias, frequency and severity of rhabdomyolyses, evolution of cardiac or hepatic manifestations, muscular strength, and quality of life. Main studied biological parameters will be: TRIHEPTANOIN use during meal tests, modifications of plasma acylcarnitines profile, modifications of urinary organic acids, blood measurements of CPK and transaminases. Cardiac echographies will be performed for the follow-up of cardiomyopathies, ergometric testing and strength tests will be performed for disorders that affect muscular function.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Double blind (participant, investigator)
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Patient with an enzyme deficiency of carnitine palmitoyltransferase 1 (CPT1), carnitine-acylcarnitine translocase (CAT), carnitine palmitoyltransferase 2 (CPT2), very-long chain acyl-CoA dehydrogenase (VLCAD), L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (MTP).
- Covered by health and social insurance
- Written informed consent
Key exclusion criteria (2 listed)
- Patient affected with FAO dysfunction secondary to other cause (e.g. mitochondrial respiratory chain disorders)
- Patient with suspected FAO disorder that has not been proven (by enzymatic or molecular test)
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 |
|---|---|---|
| Oil special 107 and MYGLIOL 810 | Drug | – |
Primary outcome
Strength tests
Time frame: 24 months
Biological parameters (acylcarnitines profile, modifications of urinary organic acids)
Time frame: 24 months
Clinical parameters (echocardiography)
Time frame: 24 months
4 secondary outcomes
Ergometric testing
Time frame: 24 months
Hepatic functions
Time frame: 24 months
Hypoglycaemia
Time frame: 24 months
Rhabdomyolyses
Time frame: 24 months
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 17 Feb 2011.
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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.
Guy Touati, PU-PH principal investigator
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?
A study testing Oil special 107 and MYGLIOL 810 in people with Inborn Errors 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 3 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: finished, as of the sponsor's last update on 17 Feb 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?
Strength tests (time frame: 24 months). The study lists 3 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 17 Feb 2011.