Ignite Creation Date:
2024-05-05 @ 4:56 PM
Last Modification Date:
2024-10-26 @ 9:26 AM
Study NCT ID:
NCT00359580
Status:
COMPLETED
Last Update Posted:
2024-07-15
First Post:
2006-08-01
Brief Title:
Genetic Studies in the Amish and Mennonites
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Studies in the Amish and Mennonites
Status:
COMPLETED
Status Verified Date:
2024-08-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 97-HG-0192 | None | None | None |