Relationship Between Succinate Dehydrogenase Mutations and High-Altitude Illness

NCT00202683 | Completed

• 1 other identifier: 2004-04
• Study Type: observational
• Target: 83
• Locations: 1 country
• Sites: 1

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.

Conditions

Altitude Intolerance; High-Altitude Illness

Keywords

Altitude; Anoxemia; Mitochondria; Reflex; Genetic research

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Chemoreflex sensitivity measured (normal or pathologic)
• Journey to high-altitude (well tolerated or with a severe disease such as pulmonary edema or cerebral edema)

You may not qualify if:

• Asthma,
• Arterial hypertension,
• Drug treatment

Sponsors & Collaborators

• Société Française de Cardiologie: lead

Study Sites (1)

Centre d'Investigation Clinique, Hopital Pompidou

Paris, 75908, France

Location

Related Publications (3)

• 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.

  PMID: 14500403 BACKGROUND

• Gimenez-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.

  PMID: 12364472 BACKGROUND

• Gimenez-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.

  PMID: 11605159 BACKGROUND

MeSH Terms

Conditions

Hypoxia

Condition Hierarchy (Ancestors)

Signs and Symptoms, Respiratory; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Jean-Luc ELGHOZI, Prof.

  Institut National de la Sante et de la Recherche Medicale U 652

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: DEFINED POPULATION
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: September 16, 2005
• First Posted: September 20, 2005
• Study Start: March 1, 2005
• Study Completion: December 1, 2006
• Last Updated: May 17, 2007

Record last verified: 2007-05

Locations

FR (1)