Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness

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Brief Title

Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness

Official Title

Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness Associated With Chemoreflex Failure

Brief 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. 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 A blood sample is withdrawn and studied for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 Type

Observational




Condition

Altitude Intolerance



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

83

Start Date

March 2005

Completion Date

December 2006


Eligibility Criteria

        Inclusion Criteria:

          -  Chemoreflex sensitivity measured (normal or pathologic)

          -  Journey to high-altitude (well tolerated or with a severe disease such as pulmonary
             edema or cerebral edema)

        Exclusion Criteria:

          -  Asthma,

          -  Arterial hypertension,

          -  Drug treatment
      

Gender

All

Ages

18 Years - 65 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Jean-Luc ELGHOZI, Prof., , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT00202683

Organization ID

2004-04



Study Sponsor

Société Française de Cardiologie


Study Sponsor

Jean-Luc ELGHOZI, Prof., Principal Investigator, Institut National de la Sante et de la Recherche Medicale U 652


Verification Date

May 2007