Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT00359580 |
| Other study ID # |
970192 |
| Secondary ID |
97-HG-0192 |
| Status |
Completed |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
February 10, 2004 |
Study information
| Verified date |
January 18, 2024 |
| Source |
National Institutes of Health Clinical Center (CC) |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial 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....
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.
