Genetic Analysis of Human Hereditary Hearing Impairment
This studied is designed to discover the genes that cause hearing impairment. More precisely, this study aims to map and clone genes that are important for the development and maintenance of the anatomy and physiology related to hearing (auditory system).
The study will begin by finding large families who have members with hearing impairment. Once families are found, members with and without hearing impairment will be evaluated by an audiologist and a clinician (doctor). An audiologist, is a person trained in evaluating, habilitating, and rehabilitating people with disorders of hearing function. The clinician's responsibility is to examine the patients and check for other signs and symptoms related to hearing.
Finding the gene for hearing impairment requires:
- <TAB>DNA samples of hearing impaired family members, taken from standard blood samples.
- <TAB>DNA samples of members of the family without hearing impairment, taken from standard blood samples.
- <TAB>Results of hearing tests conducted by the audiologist for all participants.
Once all members of the family are evaluated researchers can create a pedigree. A pedigree is like a family tree that charts members of a family with a genetic disorder, like hearing impairment. Pedigrees are used to determine the mode of inheritance of the gene responsible for a particular condition.
Finally, researcher intend on using all the information gathered as well as methods for genetic analysis to map out the location of the gene. Patients participating in this study will not directly benefit from its research, but scientific understanding achieved may help researchers better understand the auditory system and someday prevent deafness.<TAB>...
研究概览
地位
详细说明
研究类型
注册 (实际的)
联系人和位置
学习地点
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Maryland
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Bethesda、Maryland、美国、20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
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参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
有资格学习的性别
描述
- 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.
学习计划
研究是如何设计的？
合作者和调查者
研究记录日期
研究主要日期
学习开始
研究完成
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.
Partial Hearing Loss的临床试验
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Stratatech, a Mallinckrodt Company完全的