Mendelian DisordersNCT02021734
Genetics of Mendelian Diseases in Qatar
An observational study of Mendelian Disorders, run by Weill Medical College of Cornell University at 1 site in Qatar.
Trial summary
There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Mendelian Disorders
- How many people
- 400 participants
- Where
- 1 siteQatar
- Study dates
- 19 Nov 2012to Feb 2025
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: physicians and by thorough review of the literature to establish that the disease is indeed Mendelian and with unknown gene.
Who may be able to join
- 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)
Show all 11Show fewer
- 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)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools.
Read the detailed description
There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools. These include high-throughput sequencing and genotyping along with the necessary bioinformatics analyses that will lead to the discovery of the causes of most inherited diseases in the region.The secondary objective will be to build a comprehensive catalogue of genetic variation in the Arab world. This will include all detected mutations, not only the subset that are causing disease (from primary objective), but also known trait-altering mutations as well as general diversity on the DNA level among human populations of this region. This catalogue can become a widely useful resource for many projects down the road, as it relies on anonymizing individual samples and instead displaying data in aggregate as the cohorts of collected samples grow over the years.
The study will include all genetic disorders from all ethnic backgrounds but Mendelian disease for which a gene mutation has already been identified will be excluded.
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)
- Conditions
- Mendelian Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
Next generation sequencing
Use next generation sequencing to detect novel disease causing mutations
Measured: 1 hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Dec 2013 (estimated)
- Study start19 Nov 2012
- Primary completionJun 2022
- Study completionFeb 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mendelian DisordersStudies of the same condition, open and under way.
- More trials run by Weill Medical College of Cornell UniversityThe sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Weill Medical College of Cornell University
- Sponsor type
- University, hospital or other
- Collaborators
- Hamad Medical Corporation, Weill Cornell Medical College in Qatar
- Responsible party
- Sponsor
- Investigators
- Ronald Crystal, MD, Principal investigator, Weill Medical College of Cornell University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02021734
- Sponsor's protocol ID
- 13-00065 [JIRB]
- Other IDs
- 12217/12
- Status last verified
- Nov 2025
- First submitted
- 22 Nov 2013
- Last updated
- 17 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Mendelian Diseases in Qatar
- ClinicalTrials.gov ID
- NCT02021734
- Acronym / sponsor ID
- 13-00065 [JIRB]
- Conditions
- Mendelian Disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Weill Medical College of Cornell UniversityUniversity, hospital or other
- Collaborators
- Hamad Medical Corporation, Weill Cornell Medical College in Qatar
- Study start
- 19 Nov 2012 (actual)
- Primary completion
- Jun 2022 (actual)
- Study completion
- Feb 2025 (actual)
- First posted
- 27 Dec 2013 (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.
There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools.
Detailed description
There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools. These include high-throughput sequencing and genotyping along with the necessary bioinformatics analyses that will lead to the discovery of the causes of most inherited diseases in the region.The secondary objective will be to build a comprehensive catalogue of genetic variation in the Arab world. This will include all detected mutations, not only the subset that are causing disease (from primary objective), but also known trait-altering mutations as well as general diversity on the DNA level among human populations of this region. This catalogue can become a widely useful resource for many projects down the road, as it relies on anonymizing individual samples and instead displaying data in aggregate as the cohorts of collected samples grow over the years.
The study will include all genetic disorders from all ethnic backgrounds but Mendelian disease for which a gene mutation has already been identified will be excluded.
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)
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- physicians and by thorough review of the literature to establish that the disease is indeed Mendelian and with unknown gene.
Key inclusion criteria (11 listed)
- 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:
Key exclusion criteria (6 listed)
- 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
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
Next generation sequencing
Time frame: 1 hour
Use next generation sequencing to detect novel disease causing mutations
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 17 Nov 2025.
- Individual participant dataSharing planned: No
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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.
Ronald Crystal, MD principal investigator
Weill Medical College of Cornell University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mendelian Disorders, run by Weill Medical College of Cornell University at 1 site in Qatar.
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 11 inclusion and 6 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 17 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Qatar. 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?
Next generation sequencing (time frame: 1 hour). 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 17 Nov 2025.