Genetic Analysis of Human Hereditary Hearing Impairment
Collecte de données
Maladies de l'oreille+6
+ Troubles de l'audition
+ Maladies du système nerveux
Résumé
Date de début de l'étude : 8 septembre 1997
Date à laquelle le premier participant a commencé l'étude.The objective of this research project is to map and clone genes that are important for the normal development or maintenance of the auditory system. One strategy for identifying some of the genes important for auditory processes is to ascertain large families each with several hearing impaired individuals. Initial contact will be made by family physicians, audiologist, supervisors in schools for the hearing impaired, and directly by the principal investigators during surveys of schools for the deaf and visits with hearing impairment self-help groups. Members of a family will be evaluated by an audiologist, and instances of hearing impairment will be documented and categorized. A clinician would then examine hearing impaired and unaffected members of the family for the presence of other clinical features so as to distinguish between nonsyndromic and syndromic forms of hearing impairment. Pedigrees of these families will be analyzed to determine the mode of inheritance of the hereditary hearing impairment segregating in each family. Families will be ascertained through audiologists and other clinicians, genetics clinics, schools for the hearing impaired and through linguists and medical anthropologists who study unique sign languages and the sociology of communities with a high proportion of hearing impaired individuals. The mutated gene will then be genetically mapped by a linkage or association based strategy, using DNA typing of highly polymorphic genetic markers distributed across the human genome.
Protocole
Cette section fournit des détails sur le plan de l'étude, y compris la manière dont l'étude est conçue et ce qu'elle évalue.404 participants à inclure
Nombre total de participants que l'essai clinique vise à recruter.Éligibilité
Les chercheurs recherchent des patients correspondant à une certaine description appelée critères d'éligibilité : état de santé général ou traitements antérieurs du patient.Tout sexe
Le sexe biologique des participants éligibles à s'inscrire.Volontaires sains non autorisés
Indique si les individus en bonne santé et ne présentant pas la condition étudiée peuvent participer.Conditions
Pathologie
Critères
INCLUSION CRITERIA: It is anticipated that, in most cases, patients will be recruited whose disorders do not appear to be syndromic (i.e. are not associated with extra-auditory or extra-vestibular features). We seek subjects who are members of large families with multiple individuals affected with a hearing disorder. Sporadic cases will occasionally be included when the phenotype has features suggestive of mutations in one or a few particular candidate genes, since autosomal or X-linked recessive inheritance can appear to be sporadic. If there is evidence of genetic homogeneity, small families can be pooled for linkage analysis, or a combination of large and small families can be pooled. Subjects of any ethnic background, gender, age, sexual orientation, or health status will be included. EXCLUSION CRITERIA: Patients will be excluded when their hearing or vestibular dysfunction are known to be caused by a nongenetic etiology such as trauma, infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as noise or aminoglycoside antibiotics.
Centres d'étude
Ce sont les hôpitaux, cliniques ou centres de recherche où l'essai est conduit. Vous pouvez trouver le site le plus proche de vous ainsi que son statut.Cette étude comporte 1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, United StatesOuvrir National Institutes of Health Clinical Center, 9000 Rockville Pike dans Google Maps