Scientists hunt for disease genes in amish and mennonite communities

NCT ID NCT00359580

Completed Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 2 times

Summary

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees to help with future genetic research. The goal was to better understand and eventually improve diagnosis and care for these rare disorders.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this research could improve diagnosis and medical care for rare genetic disorders in these communities.
What could go wrong: This is an observational study, not a treatment trial. It may not directly lead to new therapies, and findings may not apply to the general population.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

cartilage-hair hypoplasia Ellis-van Creveld syndrome hereditary disease Rare Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

GENETIC DISEASE

Contacts and locations

Locations

Clinic for Special Children

Strasburg, Pennsylvania, 17579, United States
National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

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