An observational study in Undiagnosed Diseases and Rare Diseases, sponsored by National Human Genome Research Institute (NHGRI). Recruiting at 1 site in Mauritius. Open to participants aged 2 Years to 100 Years. Per ClinicalTrials.gov, last updated 2026-11-10.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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.
Study Description:
We plan to couple novel techniques of genomic interrogation with more traditional methods involved in genetic discovery to investigate a broad range of diseases and conditions in locations without access to medical genetics for which there exists strong evidence that genetic factors are contributory.
Objectives:
Primary Objective: To investigate the genetic contribution to conditions displaying unconventional clinical phenotypes/familial segregation among individuals belonging to historically underrepresented populations.
Secondary Objective: To develop an international collaborative network across countries with limited or no access to medical genetics.
Tertiary/Exploratory Objective: To identify the psychosocial impact and cultural considerations of the diagnostic odyssey in countries without medical genetics access to better inform genetic counseling practices for these populations.
Endpoints:
Primary Endpoint: Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
Secondary Endpoint: Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics.
Tertiary/Exploratory Endpoint: Elucidation of psychosocial impact and cultural considerations for patients with limited access to medical genetics.
592 studies on the registry are indexed under Rare Diseases; 125 are open to participants now.
This study's planned enrollment of 400 is above the median of 133 across 208 observational studies indexed under Rare Diseases.
Browse Rare Diseases studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.
Compared within Rare Diseases, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Undiagnosed Diseases. The counts are of registry records indexed under each term, refreshed daily. How we classify →
To be eligible to participate in this study, an individual must meet all of the following criteria: willingness to comply with all study procedures and availability for the duration of the study; age >2 years when enrolled in the study; suspicion of genetic cause for illness due to strong family history, young age of onset, illness being either more or less severe than expected; verification of meeting clinical inclusion criteria by reviewing a participant's medical record; ability of participant and their parent or guardian (if \<18 years old) to understand and willingly sign informed consent document. Those with previous genetic testing that was positive, those with evidence that their symptoms are caused by a condition unlikely to be genetic, or those with conditions that may interfere with their ability to participate in required testing will be excluded from this study.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
To be eligible to participate in this study, an individual must meet all of the following criteria:
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation in this study:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Individuals with a condition that is expected to be caused by a genetic change
Individuals who are first-degree relatives (parents, siblings, children) of affected individuals enrolled in this study
Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
The outcome will be achieved when we have reached a point where use of appropriate genomic interrogation techniques does not yield new pathophysiological insights.
Time frame: 10 years
Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics.
The creation of intra-institutional protocols, relationships with ethics committees, and development of genetic study expertise will indicate this endpoint has been reached.
Time frame: 10 years
Plan to share: No
No publications or documents are linked to this record.
Start is estimated for Nov 2026; primary completion for Aug 2034, 93 months later.
Of 88 observational studies under Rare Diseases, half reached primary completion within 118 months of starting (the median), counting those still running; a quarter within 39 and three quarters within 183. This study's planned 93 months is below that.
Rare Diseases covers many different conditions, not one, so the studies compared here vary widely. Read these figures as a rough guide.
Start moved 32 times since we started tracking on Sep 25, 2026: Sep 2026 → Nov 2026, last on Nov 10, 2026.
Earlier changes are on the record history on ClinicalTrials.gov ↗
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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