Altitude IntoleranceNCT00202683
Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness
An observational study of Altitude Intolerance and High-Altitude Illness, run by Société Française de Cardiologie at 1 site in France.
Trial summary
This study is is the first step of a full study named CHEMOGENE because it explores the genetic determinant of an alteration of the chemoreflex. This reflex determines hyperventilation when the pressure of oxygen falls in the blood. Read more about this study
- Who is it for?
- Ages 18 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Altitude Intolerance, High-Altitude Illness
- How many people
- 83 participants
- Where
- 1 siteFrance
- Study dates
- Mar 2005to Dec 2006
- 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 18 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Chemoreflex sensitivity measured (normal or pathologic)
- Journey to high-altitude (well tolerated or with a severe disease such as pulmonary edema or cerebral edema)
Who cannot join
- Asthma,
- Arterial hypertension,
- Drug treatment
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness Associated With Chemoreflex Failure
This study is is the first step of a full study named CHEMOGENE because it explores the genetic determinant of an alteration of the chemoreflex. This reflex determines hyperventilation when the pressure of oxygen falls in the blood. This happens when subjects travel to high-altitude where oxygen levels diminish in the atmosphere. Subjects with such an altered chemoreflex are intolerant to altitude and develop pulmonary or cerebral edema associated with a severe headache. In this study we compare subjects tolerant to high altitude (8000 meters)to subjects intolerant to altitude. The chemoreflex is measured i.e. the hyperventilation associated with hypoxia and all subjects are scanned for the genes implicated in the mitochondrial respiratory chain. The idea is that subjects with an impaired oxygen sensing will exhibit an altered chemoreflex and will be intolerant to high-altitude.
Read the detailed description
Subjects are selected at an outpatient clinic specialised in the diagnosis of tolerance to altitude, where the chemoreflex is analyzed during a bicycle exercise performed with a oxygen deprived air simulating a 8000 meters altitude.
All subjects will go later to high altitude for trekking usually. The patients are those subjects with an altered chemoreflex who exhibited cerebral edema or pulmonary edema during the trekking.
The controls are the subjects with a normal chemoreflex who did not exhibit any trouble during their journey.
Fourty subjects of each group are included. A blood sample is withdrawn and studied for succinate dehydrogenase genes in a blind fashion.
After completing the inclusion the allelic mutations will be compared in the two groups.
- Conditions
- Altitude Intolerance, High-Altitude Illness
- Keywords
- Altitude, Anoxemia, Mitochondria, Reflex, Genetic research
- Medical subject headings
- Hypoxia
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2005 (estimated)
- Study startMar 2005
- Study completionDec 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Altitude IntoleranceStudies 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
- Defined population
- Time perspective
- Retrospective
- Enrolment
- 83 participants (actual)
Sponsor and investigators
- Lead sponsor
- Société Française de Cardiologie
- Sponsor type
- University, hospital or other
- Investigators
- Jean-Luc ELGHOZI, Prof., Principal investigator, Institut National de la Sante et de la Recherche Medicale U 652
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00202683
- Sponsor's protocol ID
- 2004-04
- Status last verified
- May 2007
- First submitted
- 16 Sep 2005
- Last updated
- 17 May 2007
- Results posted
- No
- Data monitoring committee
- No
Publications
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res. 2003 Sep 1;63(17):5615-21.
PubMed 14500403Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rotig A, Jeunemaitre X. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525.
PubMed 12364472Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rotig A, Jeunemaitre X. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet. 2001 Dec;69(6):1186-97. doi: 10.1086/324413. Epub 2001 Oct 16.
PubMed 11605159
Study at a glance
From the registry record, last updated by the sponsor on 17 May 2007. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness Associated With Chemoreflex Failure
- ClinicalTrials.gov ID
- NCT00202683
- Acronym / sponsor ID
- 2004-04
- Conditions
- Altitude Intolerance, High-Altitude Illness
- Keywords
- Altitude, Anoxemia, Mitochondria, Reflex, Genetic research
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 83 participants (actual)
- Lead sponsor
- Société Française de CardiologieUniversity, hospital or other
- Study start
- Mar 2005
- Study completion
- Dec 2006 (actual)
- First posted
- 20 Sep 2005 (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.
This study is is the first step of a full study named CHEMOGENE because it explores the genetic determinant of an alteration of the chemoreflex. This reflex determines hyperventilation when the pressure of oxygen falls in the blood. This happens when subjects travel to high-altitude where oxygen levels diminish in the atmosphere. Subjects with such an altered chemoreflex are intolerant to altitude and develop pulmonary or cerebral edema associated with a severe headache. In this study we compare subjects tolerant to high altitude (8000 meters)to subjects intolerant to altitude. The chemoreflex is measured i.e. the hyperventilation associated with hypoxia and all subjects are scanned for the genes implicated in the mitochondrial respiratory chain. The idea is that subjects with an impaired oxygen sensing will exhibit an altered chemoreflex and will be intolerant to high-altitude.
Detailed description
Subjects are selected at an outpatient clinic specialised in the diagnosis of tolerance to altitude, where the chemoreflex is analyzed during a bicycle exercise performed with a oxygen deprived air simulating a 8000 meters altitude.
All subjects will go later to high altitude for trekking usually. The patients are those subjects with an altered chemoreflex who exhibited cerebral edema or pulmonary edema during the trekking.
The controls are the subjects with a normal chemoreflex who did not exhibit any trouble during their journey.
Fourty subjects of each group are included. A blood sample is withdrawn and studied for succinate dehydrogenase genes in a blind fashion.
After completing the inclusion the allelic mutations will be compared in the two groups.
Study design
- Observational model
- Defined population
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Chemoreflex sensitivity measured (normal or pathologic)
- Journey to high-altitude (well tolerated or with a severe disease such as pulmonary edema or cerebral edema)
Key exclusion criteria (3 listed)
- Asthma,
- Arterial hypertension,
- Drug treatment
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
Not reported in the source record.
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 May 2007.
- Background: PubMed 14500403Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res. 2003 Sep 1;63(17):5615-21.
- Background: PubMed 12364472Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rotig A, Jeunemaitre X. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525.
- Background: PubMed 11605159Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rotig A, Jeunemaitre X. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet. 2001 Dec;69(6):1186-97. doi: 10.1086/324413. Epub 2001 Oct 16.
Related trials for Altitude Intolerance
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Healthy Adults, Mechanical Ventilation Dependence
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.
Jean-Luc ELGHOZI, Prof. principal investigator
Institut National de la Sante et de la Recherche Medicale U 652
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 Altitude Intolerance and High-Altitude Illness, run by Société Française de Cardiologie 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 2 inclusion and 3 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 May 2007. 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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00202683, which also lists 3 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 17 May 2007.