NCT00359580

Genetic Studies in the Amish and Mennonites

Completed Last updated 24 March 2026

What this trial tests

trial in Genetic Disease in 157 participants. Completed.

Timeline

10 February 2004

Quick facts

Lead sponsor	National Human Genome Research Institute (NHGRI)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	157
Start date	10 February 2004
Sites	2 locations across United States

Conditions studied

• Genetic Disease — all drugs for Genetic Disease →

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

18 and older, any sex, with Genetic Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.