Genetic Studies in the Amish and Mennonites
|First Received Date ICMJE||August 1, 2006|
|Last Updated Date||June 24, 2016|
|Start Date ICMJE||September 1997|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00359580 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Genetic Studies in the Amish and Mennonites|
|Official Title ICMJE||Genetic Studies in the Amish and Mennonites|
The purposes of this study are to identify the genes responsible for several inherited disorders commonly seen in the Amish and Mennonite populations and learn more about the natural history (medical problems that develop over time) of these disorders. In addition, researchers will establish a computer database containing Amish genealogies, derived largely from the community s extensive records of births, marriages, deaths, etc., that will help construct pedigrees (family trees) for genetic study.
The Amish and Mennonite peoples have a high rate of intermarriage within their individual communities, with a resulting high incidence of inherited disorders. Many of these disorders, such as cartilage-hair hypoplasia, Ellis-van Creveld syndrome, and others, are rarely seen outside these communities. New research using state-of-the-art methodologies in genetics will add to current knowledge about the causes and symptoms of these disorders that will eventually aid in their diagnosis and medical management.
Patients with inherited disorders that occur frequently in the Amish and Mennonite populations and their family members may be eligible for this study. Individuals from both within and outside these communities may enroll.
Participants will be evaluated with a review of their medical records and their personal and family medical history and a brief physical examination. A small tissue sample will be collected for genetic studies. This will be either a blood sample (3 teaspoons from adults and 1 to 3 teaspoons from children, depending on their size) or a mouth swab (cells removed from inside the cheek by gentle brushing). Some participants may undergo additional procedures, such as diagnostic X-rays, brain scans, echocardiogram (heart ultrasound) or other studies.
If genetic testing shows a gene change (mutation), the participant will be notified to that effect in writing and offered counseling in their home regarding the test results and their implications.
|Detailed Description||The Amish and Mennonite populations represent outstanding communities for the study of genetic disease for a number of reasons. There is a high degree of inbreeding, resulting in a high frequency of recessive disorders, many of which are seen rarely or are unknown outside of this population. Extensive genealogical records are available, and the average family size is large. This proposal includes a number of collaborators who have had extremely close, extensive interaction with the Lancaster County Amish over the past decade; their relationships with the community are invaluable to the success of this project. We have had substantial success with this research over the past seven years, leading to the discovery of the molecular etiology of four human diseases and the establishment of a useful database and tools for genealogical analysis. We propose to continue this line of research to further characterize these disorders and identify additional ones, as well as enlarging a computerized Anabaptist genealogy.|
|Study Type ICMJE||Observational|
|Study Design ICMJE||Time Perspective: Retrospective|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Genetic Disease|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Completed|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
Subjects are divided into two groups:
Patients and their families with known or suspected Mendelian or complex traits, who will be enrolled in the molecular genetics and phenotypic characterization study.
Informed consent will be obtained from each of these subjects.
Those individuals who are listed in the Fisher Family History and multiple other genealogy books will be included in the AGD database.
|Ages||up to 100 Years (Child, Adult, Senior)|
|Accepts Healthy Volunteers||No|
|Contacts ICMJE||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries ICMJE||United States|
|Removed Location Countries|
|NCT Number ICMJE||NCT00359580|
|Other Study ID Numbers ICMJE||970192, 97-HG-0192|
|Has Data Monitoring Committee||Not Provided|
|Plan to Share Data||Not Provided|
|IPD Description||Not Provided|
|Responsible Party||National Human Genome Research Institute (NHGRI)|
|Study Sponsor ICMJE||National Human Genome Research Institute (NHGRI)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||June 2016|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP