Hypertrophic CardiomyopathyNCT03043209
Genomic Sequencing in Patients With HCM Undergoing Septal Myectomy
An observational study of Hypertrophic Cardiomyopathy and Genetic Disease, run by The Cleveland Clinic at 1 site in United States.
Trial summary
Investigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations. For this study, investigators have targeted hypertrophic cardiomyopathy. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Hypertrophic Cardiomyopathy, Genetic Disease, Gene Product Sequence Variation
- What is being tested?
- Genomic sequencing
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Aug 2018to 28 Dec 2022
- 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 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 18 years and older, scheduled for septal myectomy and no family history of HCM
Who may be able to join
- Patient is 18 years and older has a clinical diagnosis of hypertrophic cardiomyopathy.
- Patient scheduled for clinically-indicated myomectomy.
- Patient has a negative family history of hypertrophic cardiomyopathy
- Patient is willing to receive results of secondary variant screen
Who cannot join
- Pregnant
- Inability to give informed consent
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Genomic Sequencing in Patients With Hypertrophic Cardiomyopathy Undergoing Septal Myectomy
Investigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations. For this study, investigators have targeted hypertrophic cardiomyopathy.
Read the detailed description
The hypothesis is that sporadic or simplex occurrences of what are typically autosomal dominantly inherited diseases can instead be caused my mosaic mutations, specifically, mutations in the heart itself.
This hypothesis mandates that investigators sequence both affected and unaffected tissues, which in this case, investigators will construe to be peripheral blood DNA and discarded myocardium from cardiac procedures.
Eligible individuals will first undergo informed consent to be part of the study prior to their scheduled myomectomy. The study participants will also have phlebotomy for research samples.
The NIH Intramural Sequencing Center (NISC) will perform paired exome or genome sequencing and we will first screen for germline mutations in known cardiomyopathy genes that meet ACMG standards of likely pathogenic or pathogenic.
Then, if this is negative, investigators will screen for sequence variants that are present in cardiac tissue but absent in the blood DNA. Investigators will also screen blood DNA for secondary findings in genes recommended for annotation and results return by the ACMG and sequence variants deemed clinically relevant in this gene set will be validated in a CLIA-certified laboratory and the results returned to that participant.
- Being tested
- Genomic sequencing
- Medical subject headings
- Cardiomyopathy, Hypertrophic, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genomic sequencingGenetic
Genomic sequencing of DNA in Blood sample and myectomy tissue
| Study group | Role | What they receive |
|---|---|---|
| Genomic sequencing | Perform Genomic sequencing in peripheral blood DNA and discarded myocardium from cardiac procedures Receives: Genetic: Genomic sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic causes of HCM in patients without a strong family history of the condition
The investigators will use DNA testing technology called "genomic sequencing"
Measured: one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2017 (estimated)
- Study start30 Aug 2018
- Primary completion4 Dec 2020
- Study completion28 Dec 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hypertrophic CardiomyopathyStudies of the same condition, open and under way.
- More trials run by The Cleveland ClinicThe 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- The Cleveland Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Milind Desai, The Cleveland Clinic
- Investigators
- Milind Desai, MD, Principal investigator, The Cleveland Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03043209
- Sponsor's protocol ID
- 17-090
- Status last verified
- Jan 2023
- First submitted
- 2 Feb 2017
- Last updated
- 6 Jan 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 6 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Sequencing in Patients With Hypertrophic Cardiomyopathy Undergoing Septal Myectomy
- ClinicalTrials.gov ID
- NCT03043209
- Acronym / sponsor ID
- 17-090
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- The Cleveland ClinicUniversity, hospital or other
- Study start
- 30 Aug 2018 (actual)
- Primary completion
- 4 Dec 2020 (actual)
- Study completion
- 28 Dec 2022 (actual)
- First posted
- 3 Feb 2017 (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.
Investigators aim to use comparative exome and/or genome sequencing to discover causative molecular lesions for phenotypes hypothesized to be caused by somatic mutations. For this study, investigators have targeted hypertrophic cardiomyopathy.
Detailed description
The hypothesis is that sporadic or simplex occurrences of what are typically autosomal dominantly inherited diseases can instead be caused my mosaic mutations, specifically, mutations in the heart itself.
This hypothesis mandates that investigators sequence both affected and unaffected tissues, which in this case, investigators will construe to be peripheral blood DNA and discarded myocardium from cardiac procedures.
Eligible individuals will first undergo informed consent to be part of the study prior to their scheduled myomectomy. The study participants will also have phlebotomy for research samples.
The NIH Intramural Sequencing Center (NISC) will perform paired exome or genome sequencing and we will first screen for germline mutations in known cardiomyopathy genes that meet ACMG standards of likely pathogenic or pathogenic.
Then, if this is negative, investigators will screen for sequence variants that are present in cardiac tissue but absent in the blood DNA. Investigators will also screen blood DNA for secondary findings in genes recommended for annotation and results return by the ACMG and sequence variants deemed clinically relevant in this gene set will be validated in a CLIA-certified laboratory and the results returned to that participant.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genomic sequencing | – | Genetic: Genomic sequencingPerform Genomic sequencing in peripheral blood DNA and discarded myocardium from cardiac procedures |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 18 years and older, scheduled for septal myectomy and no family history of HCM
Key inclusion criteria (4 listed)
- Patient is 18 years and older has a clinical diagnosis of hypertrophic cardiomyopathy.
- Patient scheduled for clinically-indicated myomectomy.
- Patient has a negative family history of hypertrophic cardiomyopathy
- Patient is willing to receive results of secondary variant screen
Key exclusion criteria (2 listed)
- Pregnant
- Inability to give informed consent
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 |
|---|---|---|
| Genomic sequencingGenomic sequencing of DNA in Blood sample and myectomy tissue | Genetic | Genomic sequencing |
Primary outcome
Genetic causes of HCM in patients without a strong family history of the condition
Time frame: one year
The investigators will use DNA testing technology called "genomic sequencing"
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 6 Jan 2023.
- 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.
Milind Desai, MD principal investigator
The Cleveland Clinic
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 Hypertrophic Cardiomyopathy and Genetic Disease, run by The Cleveland Clinic 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 2 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 6 Jan 2023. 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 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?
Genetic causes of HCM in patients without a strong family history of the condition (time frame: one year). 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 6 Jan 2023.