Familial HypercholesterolemiaCATCHNCT04419090
Cascade Genetic Testing of Familial Hypercholesterolemia
A study testing web-based centralized service and message in people with Familial Hypercholesterolemia, run by Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland at 1 site in Switzerland.
Trial summary
Familial hypercholesterolemia (FH) is a frequent genetic disorder (1/200) associated with an increased risk of early-onset myocardial infarction. To improve detection and treatment of patient with FH, cascade genetic testing in families is recommended by many cardiovascular prevention guidelines. Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Familial Hypercholesterolemia
- What is being tested?
- web-based centralized service and message
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 379 participants
- Where
- 1 siteSwitzerland
- Study dates
- 10 Nov 2020to 31 Dec 2023
- Phase
- Interventional
- 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 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- patients with severe hypercholesterolemia and familial or personal history of early-onset cardiovascular disease = Dutch Lipid Clinic Network score (DLNC) >= 6 points.
Who cannot join
- Patients without at least one contactable first-degree family members
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
Center for primary care and public health (Unisanté), University of Lausanne
Lausanne, 1011
About this study
Official title: Cascade Genetic Testing of Familial Hypercholesterolemia: the CATCH Multicenter Randomized Controlled Trial
Familial hypercholesterolemia (FH) is a frequent genetic disorder (1/200) associated with an increased risk of early-onset myocardial infarction. To improve detection and treatment of patient with FH, cascade genetic testing in families is recommended by many cardiovascular prevention guidelines. However, the implementation of national genetic cascade screening is challenging, because legal protection to guarantee privacy of data do not authorize physicians to directly contact at-risk relatives. Using current mobile information technologies and a centralized web-based platform, we designed an ethical genetic cascade screening program for FH to be tested in Switzerland.
- Conditions
- Familial Hypercholesterolemia
- Being tested
- web-based centralized service and message
- Medical subject headings
- Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
web-based centralized service and messageOther
Perform three cycles of cascade screening through several generation of family members of an index case. The contact of relatives will be initiated by the index case and supported by a web-based centralized service. The index case will be provided with a prepared email or Whatsapp message that the index case can further forward to his first-degree relatives. The email/message will contain a link to a secured web application with a code for the connection. By clicking on the link, the relative will connect to a specifically designed app. The app will provide information about the transmission mode of FH, the cardiovascular risk associated with FH and the way how to reduce this risk. The relative can then fill out information and provide agreement to be contacted for the study. The nearest specialized clinic will then contact the relative to organize further screening with similar processes.
| Study group | Role | What they receive |
|---|---|---|
| Monogenic positive FH, direct contact | Experimental | Not described Receives: Other: web-based centralized service and message |
| Monogenic positive FH, usual care | No intervention | Not described |
| Monogenic negative FH, direct contact | Experimental | Not described Receives: Other: web-based centralized service and message |
| Monogenic negative FH, usual care | No intervention | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
the yield of detection of familial hypercholesterolemia (FH)
The yield of detection is the number of test performed/number of contactable relatives.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2020
- Study start10 Nov 2020
- Primary completion31 Dec 2023
- Study completion31 Dec 2023
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 Familial HypercholesterolemiaStudies 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
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 379 participants (actual)
Sponsor and investigators
- Lead sponsor
- Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
- Sponsor type
- University, hospital or other
- Collaborators
- Swiss Heart Foundation
- Responsible party
- Sponsor
- Investigators
- David Nanchen, MD, Principal investigator, Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04419090
- Sponsor's protocol ID
- 2020-01271
- Acronym
- CATCH
- Status last verified
- Jan 2024
- First submitted
- 3 Jun 2020
- Last updated
- 18 Jan 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Nanchen D, Chaouch A, Scuderi R, Faivre V, von Kanel T, Ehret G, Brun N, Sudano I, Rickli H, Girod G, Dettwiler AB, Krasieva K, Podmore C, Rodondi N, Moutzouri E, Ballhausen D, Del Giorno R, von Eckardstein A, Beer JH, Gallino A. Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial. JAMA Netw Open. 2026 Apr 1;9(4):e266100. doi: 10.1001/jamanetworkopen.2026.6100.
PubMed 41973423
Study at a glance
From the registry record, last updated by the sponsor on 18 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cascade Genetic Testing of Familial Hypercholesterolemia: the CATCH Multicenter Randomized Controlled Trial
- ClinicalTrials.gov ID
- NCT04419090
- Acronym / sponsor ID
- CATCH / 2020-01271
- Conditions
- Familial Hypercholesterolemia
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 379 participants (actual)
- Lead sponsor
- Center for Primary Care and Public Health (Unisante), University of Lausanne, SwitzerlandUniversity, hospital or other
- Collaborators
- Swiss Heart Foundation
- Study start
- 10 Nov 2020 (actual)
- Primary completion
- 31 Dec 2023 (actual)
- Study completion
- 31 Dec 2023 (actual)
- First posted
- 5 Jun 2020 (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.
Familial hypercholesterolemia (FH) is a frequent genetic disorder (1/200) associated with an increased risk of early-onset myocardial infarction. To improve detection and treatment of patient with FH, cascade genetic testing in families is recommended by many cardiovascular prevention guidelines. However, the implementation of national genetic cascade screening is challenging, because legal protection to guarantee privacy of data do not authorize physicians to directly contact at-risk relatives. Using current mobile information technologies and a centralized web-based platform, we designed an ethical genetic cascade screening program for FH to be tested in Switzerland.
Study design
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Monogenic positive FH, direct contact | Experimental | Other: web-based centralized service and message |
| Monogenic positive FH, usual care | No intervention | – |
| Monogenic negative FH, direct contact | Experimental | Other: web-based centralized service and message |
| Monogenic negative FH, usual care | No intervention | – |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- patients with severe hypercholesterolemia and familial or personal history of early-onset cardiovascular disease = Dutch Lipid Clinic Network score (DLNC) >= 6 points.
Key exclusion criteria (1 listed)
- Patients without at least one contactable first-degree family members
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 |
|---|---|---|
| web-based centralized service and messagePerform three cycles of cascade screening through several generation of family members of an index case. The contact of relatives will be initiated by the index case and supported by a web-based centralized service. The index case will be provided with a prepared email or Whatsapp message that the index case can further forward to his first-degree relatives. The email/message will contain a link to a secured web application with a code for the connection. By clicking on the link, the relative will connect to a specifically designed app. The app will provide information about the transmission mode of FH, the cardiovascular risk associated with FH and the way how to reduce this risk. The relative can then fill out information and provide agreement to be contacted for the study. The nearest specialized clinic will then contact the relative to organize further screening with similar processes. | Other | Monogenic negative FH, direct contact, Monogenic positive FH, direct contact |
Primary outcome
the yield of detection of familial hypercholesterolemia (FH)
Time frame: 2 years
The yield of detection is the number of test performed/number of contactable relatives.
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 18 Jan 2024.
- Derived from this study: PubMed 41973423Nanchen D, Chaouch A, Scuderi R, Faivre V, von Kanel T, Ehret G, Brun N, Sudano I, Rickli H, Girod G, Dettwiler AB, Krasieva K, Podmore C, Rodondi N, Moutzouri E, Ballhausen D, Del Giorno R, von Eckardstein A, Beer JH, Gallino A. Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial. JAMA Netw Open. 2026 Apr 1;9(4):e266100. doi: 10.1001/jamanetworkopen.2026.6100.
- 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.
David Nanchen, MD principal investigator
Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing web-based centralized service and message in people with Familial Hypercholesterolemia, run by Center for Primary Care and Public Health (Unisante), University of Lausanne, Switzerland at 1 site in Switzerland.
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: finished, as of the sponsor's last update on 18 Jan 2024. 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 Switzerland. 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?
the yield of detection of familial hypercholesterolemia (FH) (time frame: 2 years). 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 NCT04419090, 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 18 Jan 2024.