Last reviewed · How we verify
NCT06595940
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
trial in Undiagnosed Diseases in 400 participants. Currently enrolling.
21 August 2034
Quick facts
| Lead sponsor | National Human Genome Research Institute (NHGRI) |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 400 |
| Start date | 22 April 2026 |
| Primary completion | 21 August 2034 |
| Estimated completion | 21 August 2034 |
| Sites | 1 location across Mauritius |
Conditions studied
- Undiagnosed Diseases — all drugs for Undiagnosed Diseases →
- Rare Diseases — all drugs for Rare Diseases →
Sponsor
National Human Genome Research Institute (NHGRI)
Who can join
Adults 2 to 100, any sex, with Undiagnosed Diseases or Rare Diseases. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
Background: Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited. Objective: To look for potential genetic sources of diseases among children and their families. Eligibility: Children aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US. Design: Participants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT06595940
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Trials by the same sponsor.
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT06595940 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI)
- Last refreshed: 17 April 2026
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT06595940.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing