Genetic DiseaseNCT00359580
Genetic Studies in the Amish and Mennonites
An observational study of Genetic Disease, run by National Human Genome Research Institute (NHGRI) at 2 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Disease
- How many people
- 157 participants
- Where
- 2 sitesUnited States
- Study dates
- 10 Feb 2004to 7 Jul 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Clinic for Special Children
Strasburg, Pennsylvania, 17579
About this study
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.
Read more
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.
Read the 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.
- Conditions
- Genetic Disease
- Keywords
- Rare Diseases, Consanguinity, Natural History
- Medical subject headings
- Genetic Diseases, Inborn, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| AGDB | Those individuals who are listed in the Fisher Family History and other genealogy books ordatabases will be included in the AGDB. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2006 (estimated)
- Study start10 Feb 2004
- Primary completion7 Jul 2014
- Study completion7 Jul 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 157 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Leslie G Biesecker, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00359580
- Sponsor's protocol ID
- 970192
- Other IDs
- 97-HG-0192
- Status last verified
- Jun 2026
- First submitted
- 1 Aug 2006
- Last updated
- 3 Jun 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies in the Amish and Mennonites
- ClinicalTrials.gov ID
- NCT00359580
- Acronym / sponsor ID
- 970192
- Conditions
- Genetic Disease
- Keywords
- Rare Diseases, Consanguinity, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 157 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 10 Feb 2004 (actual)
- Primary completion
- 7 Jul 2014 (actual)
- Study completion
- 7 Jul 2014 (actual)
- First posted
- 2 Aug 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| AGDB | – | –Those individuals who are listed in the Fisher Family History and other genealogy books ordatabases will be included in the AGDB. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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.
- Those individuals who are listed in the Fisher Family History and multiple other genealogy books will be included in the AGD database.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jun 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for Genetic Disease
RecruitingObservational study
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
Familial Mediterranean Fever (FMF), Autoinflammation
RecruitingObservational study
Genome Medical Sequencing for Gene Discovery
Intellectual Disabilities, Congenital Anomaly
RecruitingPhase 2
Effects of Treatments on Atopic Dermatitis
Eczema, Dermatitis
Active, not recruitingPhase 3
A Phase 3 Study of NTLA-2001 in ATTRv-PN
Neuromuscular Disease, Neuromuscular Diseases (NMD)
RecruitingObservational study
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Leslie G Biesecker, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease, run by National Human Genome Research Institute (NHGRI) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Database (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jun 2026; AzTrials last refreshed its copy on 6 Nov 2026.