Rare DiseasesNCT02724995
Finding Genes for Rare Diseases
An observational study of Rare Diseases, run by University of Kentucky at 1 site in United States.
Trial summary
This study will help the investigator understand the pathogenesis of different rare genetic conditions and to establish database of rare genetic databases. This would ultimately help to provide more accurate diagnosis through advanced genomic diagnostic testing and databases established from this study. Read more about this study
- Who is it for?
- Ages 1 minute to 101 years
- Conditions the study is for
- Rare Diseases
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2016to Dec 2021
- 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 1 minute to 101 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with rare genetic diseases
Who may be able to join
- Diagnosis of a rare genetic disease
- Are between the ages of 0 and 101
- Are willing to have genetic testing performed on blood or saliva samples
- Can understand and speak English
Who cannot join
- Diagnosis of cancer
- Unwilling to have genetic testing performed on blood or saliva samples
- Unable to read or speak English
- Prisoners
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Kentucky Medical Center
Lexington, Kentucky, 40536
About this study
This study will help the investigator understand the pathogenesis of different rare genetic conditions and to establish database of rare genetic databases. This would ultimately help to provide more accurate diagnosis through advanced genomic diagnostic testing and databases established from this study. This knowledge would in turn help in the clinical management of other affected family members and other individuals affected with similar conditions. Understanding of pathogenesis of the disease would also enable the investigator to develop targeted therapies for rare genetic diseases, and also to collaborate on the targeted therapy-related clinical trials.
The investigator plans to store the results of this study in databases. These results will be shared with other researchers or doctors, who research, diagnose or treat the individuals with similar diseases.
The investigator will only share the data that is collected and not the biological samples.
Read the detailed description
This proposed study is designed identify for the genetic causes of rare diseases. This study does not involve the use of investigational medication or devices. No randomization will take place. Participants enrolled into the study will be asked to provide blood or saliva samples for DNA testing. Samples will be collected by one of two methods;
- If the participant has had a clinical genetic test performed, the results/data will be collected from the University of Kentucky (UK) clinical molecular pathology laboratory or from the medical records. If the cause of the disease is not identified on clinical genetic testing, the investigator will reanalyze the clinical genetic testing data or use the blood or saliva sample leftover from the clinical genetic testing for additional experiments using new methods to identify the cause of the disease.
- If no sample leftover from the clinical genetic testing is available, the investigator plans to collect about 2 teaspoons of blood or saliva from the participant at their first visit to the site.
This study plans to enroll 1000 participants from the University of Kentucky Medical Center.
The investigator plans to store any blood or saliva DNA samples collected for future research studies involving rare genetic diseases. The stored blood or saliva DNA samples will not be released to anyone outside the study.
Stored samples will be labeled with a unique study identifier and will be maintained in the investigator's research laboratory located at the University of Kentucky, Department of Pathology and Laboratory Medicine, 800 Rose Street, Lexington, KY 40536.
There is no limit on the length of time that the samples will be stored. The investigator may keep using the stored samples indefinitely unless the participant decide to withdraw from the project.
Participants may withdraw or cancel their permission for the use for their stored samples at any time. However, any samples and health information already obtained from their use will not be destroyed.
There will be no additional costs or charges to the participant for allowing the investigator to store and use their left over blood or saliva samples and there is no benefit to the participant for allowing the investigator to store their samples.
Participants will not be paid for donating their samples. The samples and information that the participants are donating will no longer belong to them. The research may lead to new medical knowledge, tests, treatments or products. These products could have some financial value. There are no plans to provide financial payment to either the participant or their relatives should this occur.
- Conditions
- Rare Diseases
- Medical subject headings
- Rare Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Rare Genetic Diseases Diagnosed using Advanced Genomic Technologies
Investigators will use genomic technologies such as SNP microarray, Array CGH, Whole exome and whole genome sequencing to identify the mutations causing different rare diseases. These results will be reported to the patients or parents after confirming in the CLIA certified laboratory.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2016 (estimated)
- Study startFeb 2016
- Primary completionDec 2021 (estimated)
- Study completionDec 2021 (estimated)
Why it stopped: Responsible party left the university of kentucky without enrolling any participants
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Kentucky
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sivakumaran T Arumugam, PhD, Principal investigator, University of Kentucky
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02724995
- Sponsor's protocol ID
- 15-0735-P1H
- Status last verified
- Oct 2017
- First submitted
- 10 Feb 2016
- Last updated
- 26 Oct 2017
- 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 26 Oct 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Finding Genes for Rare Diseases
- ClinicalTrials.gov ID
- NCT02724995
- Acronym / sponsor ID
- 15-0735-P1H
- Conditions
- Rare Diseases
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Responsible party left the university of kentucky without enrolling any participants
- Enrolment
- 0 participants (actual)
- Lead sponsor
- University of KentuckyUniversity, hospital or other
- Study start
- Feb 2016
- Primary completion
- Dec 2021 (estimated)
- Study completion
- Dec 2021 (estimated)
- First posted
- 31 Mar 2016 (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.
This study will help the investigator understand the pathogenesis of different rare genetic conditions and to establish database of rare genetic databases. This would ultimately help to provide more accurate diagnosis through advanced genomic diagnostic testing and databases established from this study. This knowledge would in turn help in the clinical management of other affected family members and other individuals affected with similar conditions. Understanding of pathogenesis of the disease would also enable the investigator to develop targeted therapies for rare genetic diseases, and also to collaborate on the targeted therapy-related clinical trials.
The investigator plans to store the results of this study in databases. These results will be shared with other researchers or doctors, who research, diagnose or treat the individuals with similar diseases.
The investigator will only share the data that is collected and not the biological samples.
Detailed description
This proposed study is designed identify for the genetic causes of rare diseases. This study does not involve the use of investigational medication or devices. No randomization will take place. Participants enrolled into the study will be asked to provide blood or saliva samples for DNA testing. Samples will be collected by one of two methods;
- If the participant has had a clinical genetic test performed, the results/data will be collected from the University of Kentucky (UK) clinical molecular pathology laboratory or from the medical records. If the cause of the disease is not identified on clinical genetic testing, the investigator will reanalyze the clinical genetic testing data or use the blood or saliva sample leftover from the clinical genetic testing for additional experiments using new methods to identify the cause of the disease.
- If no sample leftover from the clinical genetic testing is available, the investigator plans to collect about 2 teaspoons of blood or saliva from the participant at their first visit to the site.
This study plans to enroll 1000 participants from the University of Kentucky Medical Center.
The investigator plans to store any blood or saliva DNA samples collected for future research studies involving rare genetic diseases. The stored blood or saliva DNA samples will not be released to anyone outside the study.
Stored samples will be labeled with a unique study identifier and will be maintained in the investigator's research laboratory located at the University of Kentucky, Department of Pathology and Laboratory Medicine, 800 Rose Street, Lexington, KY 40536.
There is no limit on the length of time that the samples will be stored. The investigator may keep using the stored samples indefinitely unless the participant decide to withdraw from the project.
Participants may withdraw or cancel their permission for the use for their stored samples at any time. However, any samples and health information already obtained from their use will not be destroyed.
There will be no additional costs or charges to the participant for allowing the investigator to store and use their left over blood or saliva samples and there is no benefit to the participant for allowing the investigator to store their samples.
Participants will not be paid for donating their samples. The samples and information that the participants are donating will no longer belong to them. The research may lead to new medical knowledge, tests, treatments or products. These products could have some financial value. There are no plans to provide financial payment to either the participant or their relatives should this occur.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 minute to 101 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with rare genetic diseases
Key inclusion criteria (4 listed)
- Diagnosis of a rare genetic disease
- Are between the ages of 0 and 101
- Are willing to have genetic testing performed on blood or saliva samples
- Can understand and speak English
Key exclusion criteria (4 listed)
- Diagnosis of cancer
- Unwilling to have genetic testing performed on blood or saliva samples
- Unable to read or speak English
- Prisoners
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
Number of Rare Genetic Diseases Diagnosed using Advanced Genomic Technologies
Time frame: 5 years
Investigators will use genomic technologies such as SNP microarray, Array CGH, Whole exome and whole genome sequencing to identify the mutations causing different rare diseases. These results will be reported to the patients or parents after confirming in the CLIA certified laboratory.
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2017.
- Individual participant dataSharing planned: No
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Genetic Disease
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.
Sivakumaran T Arumugam, PhD principal investigator
University of Kentucky
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 Rare Diseases, run by University of Kentucky at 1 site in United States.
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 4 inclusion and 4 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: withdrawn, as of the sponsor's last update on 26 Oct 2017. 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 United States. 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 was withdrawn before enrolling participants, so there are no results.
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?
Number of Rare Genetic Diseases Diagnosed using Advanced Genomic Technologies (time frame: 5 years). 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 26 Oct 2017; AzTrials last refreshed its copy on 29 Oct 2026.