COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH:
Working… Menu

Genetic Studies in the Amish and Mennonites

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00359580
Recruitment Status : Completed
First Posted : August 2, 2006
Last Update Posted : January 20, 2021
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:

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....

Condition or disease
Genetic Disease

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.

Layout table for study information
Study Type : Observational
Actual Enrollment : 157 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Genetic Studies in the Amish and Mennonites
Actual Study Start Date : February 10, 2004

Those individuals who are listed in the Fisher Family History and other genealogy books ordatabases will be included in the AGDB.

Primary Outcome Measures :
  1. Database [ Time Frame: Ongoing ]
    To maintain, expand, and use an electronic database containing the Anabaptist genealogies to facilitate the generation of pedigrees and calculation of common ancestors between nuclear families.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample

Subjects are divided into two groups:

Group A:

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.

Group B:

Those individuals who are listed in the Fisher Family History and multiple other genealogy books will be included in the AGD database.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00359580

Layout table for location information
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Pennsylvania
Clinic for Special Children
Strasburg, Pennsylvania, United States, 17579
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Layout table for investigator information
Principal Investigator: Leslie G Biesecker, M.D. National Human Genome Research Institute (NHGRI)
Additional Information:
Layout table for additonal information
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00359580    
Other Study ID Numbers: 970192
First Posted: August 2, 2006    Key Record Dates
Last Update Posted: January 20, 2021
Last Verified: March 6, 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Rare Diseases
Additional relevant MeSH terms:
Layout table for MeSH terms
Genetic Diseases, Inborn