Inherited Genetic ConditionsNCT06543784
Preconception Carrier Screening at the Erasmus MC
An observational study of Inherited Genetic Conditions, run by Erasmus Medical Center at 1 site in Netherlands.
Trial summary
Rationale A recent advisory report by the 'Health Council' has recommended that all prospective parents should have the opportunity to undergo preconception carrier screening. Consequently,there will no longer be any prerequisites for referring a couple. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Inherited Genetic Conditions
- How many people
- 35 participants
- Where
- 1 siteNetherlands
- Study dates
- 30 Jul 2024to 30 Jun 2025
- 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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Health care professionals involved in preconception carrier screening at Amsterdam UMC and UMC Groningen. Gynaecologists (in training), midwives, general practitioners, nurse practitioners and clinical geneticists from the clinical genetics department Erasmus MC and potential prospective parents who might want to undergo preconception carrier screening in the future.
Who may be able to join
- Health care professionals working with potential prospective parents.
- Potential prospective parents who might want to undergo preconception carrier screening in the future.
Who cannot join
- (Dutch) language proficiency not sufficient.
Trial locations and contacts
1 site in 1 country.
Netherlands1 site, 1 recruiting
- Recruiting
Erasmus MC
Rotterdam
Jozephien Robbemont, 0031650023674, j.robbemont@erasmusmc.nl
About this study
Official title: The New Wave of Preconception Carrier Screening: the Nurse Practitioner in the Lead?
Rationale A recent advisory report by the 'Health Council' has recommended that all prospective parents should have the opportunity to undergo preconception carrier screening. Consequently,there will no longer be any prerequisites for referring a couple. It is expected that there will be an increase in the number of prospective parents seeking counseling for preconception carrier screening. This is anticipated to result in an increase in the number of referrals, leading to several points of attention.
Objective(s) The aim of the research is to gather insights, perspectives, and experiences from healthcare professionals and prospective parents in order to design a care pathway for offering preconception carrier screening at Erasmus MC and the Rotterdam region. This will also include examining the role that nurse practitioners can play in this offering.
Read the detailed description
Study type Exploratory research. Study population Healthcare professionals involved in preconception carrier screening and potential prospective parents who might want to undergo preconception carrier screening in the future. Methods Semi-structured interviews and focus groups will be used to explore topics which will be audio recorded and transcribed verbatim. The results will be analyzed by two to three researchers independently following the principles of grounded theory.
Burden and risks There are no risks associated with this research. For the interviewees and participants of the focus groups there is the burden of time investment. Recruitment and consent Health care professionals and potential prospective parents will be asked for participation in the study by the treating physician. If they consent to be approached, they will be informed about the study and contacted by the researcher. If willing to participate, an appointment for the interview/focus group is scheduled. Before the start of the interview/focus group, signed informed consent will be obtained.
- Conditions
- Inherited Genetic Conditions
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Experts of experience | Health care professionals involved in preconception carrier screening at Amsterdam UMC, UMC Groningen and Australia | |
| Gynaecologists (in training) | Not described | |
| Midwives | Not described | |
| General practitioners | Not described | |
| Nurse practitioners and/or clinical geneticists | Not described | |
| Potential prospective patients who might want to undergo preconception carrier screening | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Creating a pathway for preconception carrier screening using focus groups and interviews.
Using focus groups and interviews to gather insights, perspectives, and experiences from healthcare professionals and prospective parents in order to design a care pathway for offering preconception carrier screening at Erasmus MC and the Rotterdam region.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2024
- Study start30 Jul 2024 (estimated)
- Primary completion30 Apr 2025 (estimated)
- Study completion30 Jun 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Genetic ConditionsStudies of the same condition, open and under way.
- More trials run by Erasmus Medical CenterThe 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-control
- Time perspective
- Cross-sectional
- Enrolment
- 35 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Erasmus Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Judith P.H. Robbemont, Erasmus Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06543784
- Sponsor's protocol ID
- 12716
- Status last verified
- Aug 2024
- First submitted
- 30 Jul 2024
- Last updated
- 9 Aug 2024
- 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 9 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The New Wave of Preconception Carrier Screening: the Nurse Practitioner in the Lead?
- ClinicalTrials.gov ID
- NCT06543784
- Acronym / sponsor ID
- 12716
- Conditions
- Inherited Genetic Conditions
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 35 participants (estimated)
- Lead sponsor
- Erasmus Medical CenterUniversity, hospital or other
- Study start
- 30 Jul 2024 (estimated)
- Primary completion
- 30 Apr 2025 (estimated)
- Study completion
- 30 Jun 2025 (estimated)
- First posted
- 9 Aug 2024 (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.
Rationale A recent advisory report by the 'Health Council' has recommended that all prospective parents should have the opportunity to undergo preconception carrier screening. Consequently,there will no longer be any prerequisites for referring a couple. It is expected that there will be an increase in the number of prospective parents seeking counseling for preconception carrier screening. This is anticipated to result in an increase in the number of referrals, leading to several points of attention.
Objective(s) The aim of the research is to gather insights, perspectives, and experiences from healthcare professionals and prospective parents in order to design a care pathway for offering preconception carrier screening at Erasmus MC and the Rotterdam region. This will also include examining the role that nurse practitioners can play in this offering.
Detailed description
Study type Exploratory research. Study population Healthcare professionals involved in preconception carrier screening and potential prospective parents who might want to undergo preconception carrier screening in the future. Methods Semi-structured interviews and focus groups will be used to explore topics which will be audio recorded and transcribed verbatim. The results will be analyzed by two to three researchers independently following the principles of grounded theory.
Burden and risks There are no risks associated with this research. For the interviewees and participants of the focus groups there is the burden of time investment. Recruitment and consent Health care professionals and potential prospective parents will be asked for participation in the study by the treating physician. If they consent to be approached, they will be informed about the study and contacted by the researcher. If willing to participate, an appointment for the interview/focus group is scheduled. Before the start of the interview/focus group, signed informed consent will be obtained.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Experts of experience | – | –Health care professionals involved in preconception carrier screening at Amsterdam UMC, UMC Groningen and Australia |
| Gynaecologists (in training) | – | – |
| Midwives | – | – |
| General practitioners | – | – |
| Nurse practitioners and/or clinical geneticists | – | – |
| Potential prospective patients who might want to undergo preconception carrier screening | – | – |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Health care professionals involved in preconception carrier screening at Amsterdam UMC and UMC Groningen. Gynaecologists (in training), midwives, general practitioners, nurse practitioners and clinical geneticists from the clinical genetics department Erasmus MC and potential prospective parents who might want to undergo preconception carrier screening in the future.
Key inclusion criteria (2 listed)
- Health care professionals working with potential prospective parents.
- Potential prospective parents who might want to undergo preconception carrier screening in the future.
Key exclusion criteria (1 listed)
- (Dutch) language proficiency not sufficient.
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
Creating a pathway for preconception carrier screening using focus groups and interviews.
Time frame: 1 year
Using focus groups and interviews to gather insights, perspectives, and experiences from healthcare professionals and prospective parents in order to design a care pathway for offering preconception carrier screening at Erasmus MC and the Rotterdam region.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Aug 2024.
- 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.
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 Inherited Genetic Conditions, run by Erasmus Medical Center at 1 site in Netherlands.
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 2 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: status not confirmed, as of the sponsor's last update on 9 Aug 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 Netherlands. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Creating a pathway for preconception carrier screening using focus groups and interviews. (time frame: 1 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 9 Aug 2024.