Long QT SyndromeNCT03783975
KCNQ1 Cascade Screening
A study testing Simplified Cascade Screening in people with Long QT Syndrome, run by University of Maryland, Baltimore at 1 site in United States.
Trial summary
The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies after the implementation of a simplified screening process and (2) assess proband and family member perspectives about the return of research results and cascade screening for the KCNQ1 Thr224Met variant. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Long QT Syndrome
- What is being tested?
- Simplified Cascade Screening
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 131 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Mar 2019to 29 Dec 2022
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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
Who may be able to join
- KCNQ1Thr224Met proband or first degree family member
Who cannot join
- Family members who have not been contacted by probands
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Maryland Amish Research Clinic
Lancaster, Pennsylvania, 17602
About this study
Official title: A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome
The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies after the implementation of a simplified screening process and (2) assess proband and family member perspectives about the return of research results and cascade screening for the KCNQ1 Thr224Met variant. The investigators will conduct a mixed methods study in the Old Order Amish community where the KCNQ1 variant is enriched over 100,000-fold compared to other populations. The intervention will offer free, mail-in, saliva-based genetic testing for family members of probands. The rate of uptake of testing and preventative therapy after the intervention is implemented (i.e. when 'simplified' free, mail-in, saliva-based testing was available) will be compared to data from before the intervention (i.e. when 'traditional' $50 blood-based testing was available to family members) when uptake was essentially zero. The primary outcome is the rate of uptake of cascade screening with the intervention ('simplified'). The secondary outcomes include: extent of disclosure of genotype results before and after the intervention, proportion of informed relatives who get screened before and after the intervention, and the uptake of appropriate preventative care (e.g. seeing a cardiologist and/or taking beta-blocker). The tertiary outcomes are demographic characteristics associated with uptake of cascade screening or uptake of preventative therapy. The investigators will also assess qualitative themes surrounding the return of results process and cascade screening using interviews.
- Conditions
- Long QT Syndrome
- Being tested
- Simplified Cascade Screening
- Keywords
- Cascade, Screening, Ethical, Legal, Social
- Medical subject headings
- Long QT Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Simplified Cascade ScreeningGenetic
Screening of the KCNQ1 Thr224Met variant for family members of probands
| Study group | Role | What they receive |
|---|---|---|
| Simplified Cascade Screening | Experimental | Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Receives: Genetic: Simplified Cascade Screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of At-risk Family Members Who Underwent Cascade Screening
Rate of uptake of cascade screening after the intervention ('simplified')
Measured: 18 months
Secondary outcomes (3)
Extent of Disclosure Determined by Questionnaire
proportion of family members told after the intervention ('simplified')
Measured: 18 months
Number of Informed Relatives Screened Determined by Questionnaire
Number of informed family members tested after the intervention ('simplified')
Measured: 18 months
Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire
Uptake of preventative therapy was defined as those taking a beta-blocker if recommended or those who implemented lifestyle modifications if beta-blocker not recommended. The survey was mailed to all probands.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Dec 2018
- Study start7 Mar 2019
- Primary completion27 Apr 2021
- Study completion29 Dec 2022
Why it stopped: Unable to obtain all survey data due to COVID delay
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Long QT SyndromeStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 131 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Maryland, Baltimore
- Sponsor type
- University, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Responsible party
- Principal investigator, Amber Beitelshees, University of Maryland, Baltimore
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03783975
- Sponsor's protocol ID
- HP-00081981
- Other IDs
- R21HG010412
- Status last verified
- Jun 2023
- First submitted
- 18 Dec 2018
- Last updated
- 27 Jun 2023
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome
- ClinicalTrials.gov ID
- NCT03783975
- Acronym / sponsor ID
- HP-00081981
- Conditions
- Long QT Syndrome
- Keywords
- Cascade, Screening, Ethical, Legal, Social
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Unable to obtain all survey data due to COVID delay
- Enrolment
- 131 participants (actual)
- Lead sponsor
- University of Maryland, BaltimoreUniversity, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI)
- Study start
- 7 Mar 2019 (actual)
- Primary completion
- 27 Apr 2021 (actual)
- Study completion
- 29 Dec 2022 (actual)
- First posted
- 21 Dec 2018 (actual)
- Results
- Posted 26 Oct 2022
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies after the implementation of a simplified screening process and (2) assess proband and family member perspectives about the return of research results and cascade screening for the KCNQ1 Thr224Met variant. The investigators will conduct a mixed methods study in the Old Order Amish community where the KCNQ1 variant is enriched over 100,000-fold compared to other populations. The intervention will offer free, mail-in, saliva-based genetic testing for family members of probands. The rate of uptake of testing and preventative therapy after the intervention is implemented (i.e. when 'simplified' free, mail-in, saliva-based testing was available) will be compared to data from before the intervention (i.e. when 'traditional' $50 blood-based testing was available to family members) when uptake was essentially zero. The primary outcome is the rate of uptake of cascade screening with the intervention ('simplified'). The secondary outcomes include: extent of disclosure of genotype results before and after the intervention, proportion of informed relatives who get screened before and after the intervention, and the uptake of appropriate preventative care (e.g. seeing a cardiologist and/or taking beta-blocker). The tertiary outcomes are demographic characteristics associated with uptake of cascade screening or uptake of preventative therapy. The investigators will also assess qualitative themes surrounding the return of results process and cascade screening using interviews.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Simplified Cascade Screening | Experimental | Genetic: Simplified Cascade ScreeningFree, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- KCNQ1Thr224Met proband or first degree family member
Key exclusion criteria (1 listed)
- Family members who have not been contacted by probands
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 |
|---|---|---|
| Simplified Cascade ScreeningScreening of the KCNQ1 Thr224Met variant for family members of probands | Genetic | Simplified Cascade Screening |
Primary outcome
Percentage of At-risk Family Members Who Underwent Cascade Screening
Time frame: 18 months
Rate of uptake of cascade screening after the intervention ('simplified')
3 secondary outcomes
Extent of Disclosure Determined by Questionnaire
Time frame: 18 months
Number of Informed Relatives Screened Determined by Questionnaire
Time frame: 18 months
Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire
Time frame: 18 months
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jun 2023.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for Long QT Syndrome
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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?
A study testing Simplified Cascade Screening in people with Long QT Syndrome, run by University of Maryland, Baltimore 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 1 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: stopped early, as of the sponsor's last update on 27 Jun 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?
Yes. Results are posted in the registry (first posted 26 Oct 2022). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Percentage of At-risk Family Members Who Underwent Cascade Screening (time frame: 18 months). 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 27 Jun 2023.