Genetic Studies in the Amish and Mennonites

NCT00359580 | Completed

• 2 other identifiers: 97019297-HG-0192
• Study Type: observational
• Target: 157
• Locations: 1 country
• Sites: 2

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.

Conditions

Genetic Disease

Keywords

Rare Diseases; Consanguinity; Natural History

Outcome Measures

Primary Outcomes (1)

• Database

  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.

  Ongoing

Study Arms (1)

AGDB

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

You may qualify if:

• 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.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (2)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Clinic for Special Children

Strasburg, Pennsylvania, 17579, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Genetic Diseases, Inborn; Rare Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Leslie G Biesecker, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 1, 2006
• First Posted: August 2, 2006
• Study Start: February 10, 2004
• Primary Completion: July 7, 2014
• Study Completion: July 7, 2014
• Last Updated: June 3, 2026

Record last verified: 2026-06

Locations

US (2)