Qatar study hunts for hidden genes behind rare diseases
NCT ID NCT02021734
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 2 times
Summary
This study looked at 400 people in Qatar with rare genetic diseases. Because marriages between relatives are more common there, some genetic conditions appear more often. Researchers used advanced DNA sequencing to find the exact gene changes causing these illnesses. The goal was to discover new disease-causing mutations, not to test a treatment.
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 could help identify new genetic causes of rare diseases, potentially leading to better diagnosis and future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly benefit participants, and findings may not apply to other populations.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 400 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Nov 2012
- Finished
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Feb 2025
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
physicians and by thorough review of the literature to establish that the disease is indeed Mendelian and with unknown gene.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * All included individuals must provide informed consent * All genetic disorders are included * All ethnic backgrounds are accepted * Disease must be genetic with no evident environmental cause * Evidence of Mendelian Transmission determined by fulfilling one of the following criteria: * Multiple affected family members (at least first degree relative with disease) * History of consanguinity * Severe disease in newborn in the absence of family history * Sydromic disease in single individuals * Congenital abnormality affecting major organ system(s) * Mendelianized extremes of common disease (eg sever familial diabetes/ obesity/ hypertension) Exclusion Criteria: * Individuals who do no consent to be included * Mendelian disease for which a gene mutation has already been identified * Individuals for which a molecular diagnosis has already been established by alternative method * Disease for which an environmental factor is most likely the cause * Disease for which late age of onset rule out Mendelian transmission * Common diseases for which late age of onset rule out Mendelian transmission
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Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Hamad Medical Corporation
Doha, Qatar
More trials for these conditions
Other studies related to the condition(s) this trial covers.