ThyroidPHETHYRNCT03597659
PheWAS of a Polygenic Predictor of Thyroid Function
An observational study of Thyroid and Genetic Predisposition to Disease, run by Groupe Hospitalier Pitie-Salpetriere at 1 site in France.
Trial summary
Performing a phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of Thyroid stimulating hormone (TSH) levels identified by a previously published genome-wide association study (GWAS). Read more about this study
- Who is it for?
- Ages 28 to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Thyroid, Genetic Predisposition to Disease
- What is being tested?
- phenome-wide association study (PheWAS)
- How many people
- 37,154 participants
- Where
- 1 siteFrance
- Study dates
- 1 Sep 2017to 1 Jul 2018
- 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 28 to 100 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: A primary electronic health record population derived from the eMERGE Phase I \& II Network (n=16,924), and from Vanderbilt University Medical Center's (VUMC) BioVU resource (n=20,230). All subjects born prior to 1990 and falling within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic". Thyroid Stimulating Hormone(TSH)-Population subgroup: Subjects of European Ancestry in BioVU who did not have any ICD-9 or ICD-10 codes for thyroid diseases and who had thyroid stimulating hormone (TSH) measurements that fell within the clinically normal reference range.
Who may be able to join
- Being part of the eMERGE Phase I \& II Network
- Being part of the BioVU resource
- Falling within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic"
Who cannot join
- born after 1990
Trial locations and contacts
1 site in 1 country.
France1 site
AP-HP, Pitié-Salpêtrière Hospital, Department of Pharmacology, CIC-1421, Pharmacovigilance Unit, INSERM
Paris, 75013
About this study
Performing a phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of Thyroid stimulating hormone (TSH) levels identified by a previously published genome-wide association study (GWAS). PheWAS will be applied in an electronic-health-record (EHR) cohort including North American (n: 37,154) and European participants using 1,318 phenotypes.
Read the detailed description
Applying a genetic predictor of thyroid stimulating hormone levels to an electronic-health-record cohort to verify associations with thyroid disorders as positive controls, and identify new associations .
- Conditions
- Thyroid, Genetic Predisposition to Disease
- Being tested
- phenome-wide association study (PheWAS)
- Medical subject headings
- Thyroid Diseases, Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
phenome-wide association study (PheWAS)Genetic
Phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of TSH levels identified by a previously published genome-wide association study (GWAS) which included North American and European participants. A phenome-wide scanning of 1,318 phenotypes will be performed, using a cohort of 37,154 North American individuals of European ancestry with electronic-health-record (EHR) data.
| Study group | Role | What they receive |
|---|---|---|
| BioVU-Emerge EHR cohort | A primary EHR population derived from the eMERGE Phase I \& II Network (n=16,924), a consortium of medical centers using EHRs as a tool for genomic research, and from Vanderbilt University Medical Center's (VUMC) BioVU resource (n=20,230).
BioVU is VUMC's de-identified collection of patients whose DNA was extracted from discarded blood and linked to phenotypes through a de-identified EHR.
All subjects were born prior to 1990 and fell within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic". Receives: Genetic: phenome-wide association study (PheWAS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
thyroid disorders associated with a polygenic predictor of thyroid stimulating hormone levels
All relevants statisticals associations between a defined polygenic predictor of TSH and thyroids disorders
Measured: population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018
Secondary outcomes (1)
Clinical diagnoses associated with a polygenic predictor of TSH levels
All relevants statisticals associations between a defined polygenic predictor of thyroid stimulating hormone and clinical diagnoses
Measured: population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jul 2018
- Study start1 Sep 2017
- Primary completion1 Jul 2018
- Study completion1 Jul 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for ThyroidStudies 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
- Retrospective
- Enrolment
- 37,154 participants (actual)
Sponsor and investigators
- Lead sponsor
- Groupe Hospitalier Pitie-Salpetriere
- Sponsor type
- University, hospital or other
- Collaborators
- Vanderbilt University Medical Center
- Responsible party
- Principal investigator, Joe Elie Salem, Groupe Hospitalier Pitie-Salpetriere
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03597659
- Sponsor's protocol ID
- CIC1421-18-09
- Acronym
- PHETHYR
- Status last verified
- Sep 2019
- First submitted
- 13 Jul 2018
- Last updated
- 26 Sep 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Salem JE, Shoemaker MB, Bastarache L, Shaffer CM, Glazer AM, Kroncke B, Wells QS, Shi M, Straub P, Jarvik GP, Larson EB, Velez Edwards DR, Edwards TL, Davis LK, Hakonarson H, Weng C, Fasel D, Knollmann BC, Wang TJ, Denny JC, Ellinor PT, Roden DM, Mosley JD. Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. JAMA Cardiol. 2019 Feb 1;4(2):136-143. doi: 10.1001/jamacardio.2018.4615.
PubMed 30673079
Study at a glance
From the registry record, last updated by the sponsor on 26 Sep 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PheWAS of a Polygenic Predictor of Thyroid Function
- ClinicalTrials.gov ID
- NCT03597659
- Acronym / sponsor ID
- PHETHYR / CIC1421-18-09
- Conditions
- Thyroid, Genetic Predisposition to Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 37,154 participants (actual)
- Lead sponsor
- Groupe Hospitalier Pitie-SalpetriereUniversity, hospital or other
- Collaborators
- Vanderbilt University Medical Center
- Study start
- 1 Sep 2017 (actual)
- Primary completion
- 1 Jul 2018 (actual)
- Study completion
- 1 Jul 2018 (actual)
- First posted
- 24 Jul 2018 (actual)
- 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.
Performing a phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of Thyroid stimulating hormone (TSH) levels identified by a previously published genome-wide association study (GWAS). PheWAS will be applied in an electronic-health-record (EHR) cohort including North American (n: 37,154) and European participants using 1,318 phenotypes.
Detailed description
Applying a genetic predictor of thyroid stimulating hormone levels to an electronic-health-record cohort to verify associations with thyroid disorders as positive controls, and identify new associations .
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| BioVU-Emerge EHR cohort | – | Genetic: phenome-wide association study (PheWAS)A primary EHR population derived from the eMERGE Phase I \& II Network (n=16,924), a consortium of medical centers using EHRs as a tool for genomic research, and from Vanderbilt University Medical Center's (VUMC) BioVU resource (n=20,230). BioVU is VUMC's de-identified collection of patients whose DNA was extracted from discarded blood and linked to phenotypes through a de-identified EHR. All subjects were born prior to 1990 and fell within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic". |
Who may qualify
- Ages
- 28 to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- A primary electronic health record population derived from the eMERGE Phase I \& II Network (n=16,924), and from Vanderbilt University Medical Center's (VUMC) BioVU resource (n=20,230). All subjects born prior to 1990 and falling within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic". Thyroid Stimulating Hormone(TSH)-Population subgroup: Subjects of European Ancestry in BioVU who did not have any ICD-9 or ICD-10 codes for thyroid diseases and who had thyroid stimulating hormone (TSH) measurements that fell within the clinically normal reference range.
Key inclusion criteria (3 listed)
- Being part of the eMERGE Phase I \& II Network
- Being part of the BioVU resource
- Falling within 4 standard deviations for each of the first 2 principal components based on common single nucleotide variants (SNVs) for the subset of subjects self-identified as "White, non-Hispanic"
Key exclusion criteria (1 listed)
- born after 1990
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| phenome-wide association study (PheWAS)Phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of TSH levels identified by a previously published genome-wide association study (GWAS) which included North American and European participants. A phenome-wide scanning of 1,318 phenotypes will be performed, using a cohort of 37,154 North American individuals of European ancestry with electronic-health-record (EHR) data. | Genetic | BioVU-Emerge EHR cohort |
Primary outcome
thyroid disorders associated with a polygenic predictor of thyroid stimulating hormone levels
Time frame: population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018
All relevants statisticals associations between a defined polygenic predictor of TSH and thyroids disorders
1 secondary outcome
Clinical diagnoses associated with a polygenic predictor of TSH levels
Time frame: population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018
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 26 Sep 2019.
- Background: PubMed 30673079Salem JE, Shoemaker MB, Bastarache L, Shaffer CM, Glazer AM, Kroncke B, Wells QS, Shi M, Straub P, Jarvik GP, Larson EB, Velez Edwards DR, Edwards TL, Davis LK, Hakonarson H, Weng C, Fasel D, Knollmann BC, Wang TJ, Denny JC, Ellinor PT, Roden DM, Mosley JD. Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. JAMA Cardiol. 2019 Feb 1;4(2):136-143. doi: 10.1001/jamacardio.2018.4615.
- Individual participant dataSharing planned: Undecided
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Thyroid and Genetic Predisposition to Disease, run by Groupe Hospitalier Pitie-Salpetriere at 1 site in France.
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 3 inclusion and 1 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 26 Sep 2019. 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 France. 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?
thyroid disorders associated with a polygenic predictor of thyroid stimulating hormone levels (time frame: population inclued in the eMERGE Phase I & II Network or BioVU resource until 1 july 2018). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03597659, which also lists 1 linked publication.
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 Sep 2019.