Marfan SyndromeGEMSNCT06257004
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
An observational study of Marfan Syndrome and FBN1 Mutation, run by University Hospital, Antwerp at 1 site in Belgium.
Trial summary
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems. Morbidity and mortality are mostly determined by aortic root aneurysm dissection and rupture. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Marfan Syndrome, FBN1 Mutation
- What is being tested?
- Saliva collection (screening of all participants) and Bloodsampling
- How many people
- 200 participants
- Where
- 1 siteBelgium
- Study dates
- 30 Nov 2020to 31 Oct 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: participants with Marfan syndrom
Who may be able to join
- Participants with proven mutation (p.Ile2585Thr;c.7754C>T) in the FBN1 gene
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
Belgium1 site, 1 recruiting
- Recruiting
University Hospital Antwerp
Edegem, Prins Boudewijnlaan 43/6, 2650
Bart Loeys, +3232759768, bart.loeys@uantwerpen.be
Paul Coucke, +3293323634, paul.coucke@ugent.be
About this study
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems. Morbidity and mortality are mostly determined by aortic root aneurysm dissection and rupture. Although mutations in FBN1, the gene coding for the extracellular matrix protein fibrillin-1, are the well-established genetic cause of this condition, there is a very poor correlation between the nature or location of the causal FBN1 mutation and the phenotypical outcome. Indeed, wide intra- and interfamilial phenotypical variability is observed. So, even with an identical primary mutation in all family members, the clinical spectrum varies widely, from completely asymptomatic to sudden death due to aortic dissection at a young age. The precise mechanisms underlying this variability remain largely elusive.
Consequently, a better understanding of the functional effects of the primary mutation is highly needed and the identification of genetic variation that modifies these effects is becoming increasingly important. In this project, we have carefully selected different innovative strategies to discover mother nature's own modifying capabilities with respect to Marfan syndrome aortopathy.
Read the detailed description
In this project we will focus on the cardiovascular, or more specific, the TAAD (Thoracal Aorta Aneurysma Dissection) expressivity of the Marfan syndrome. The most frequent mutations in FBN1 (fibrilin-1 ), with significant aortopathy expressivity is p.Ile2585Thr; c.7754T>C and p.Ala882Val; c.2645C>T). We will limit the used population to p.Ile2585Thr; c.7754T>C mutation since this is the biggest population.
Marfan syndrome subjects carrying an identical FBN1 mutation show a variable aortopathy expressivity, even within one family. We hypothesize that the cardiovascular phenotypical variability is under control of genetic modifiers.
The first approach strategy involves ranking of carriers of the specific FBN1 mutation that present with significant variable aortopathy expressivity according to the severity of aortic aneurysma disease (based on Z-score, timing of surgery and manual expert curation). We will stratify these mutation carrying individuals in three groups: mild or no aortic disease (UMC, unaffected mutation carrier)), severely affected (AMC, affected mutation carrier), and participants with indeterminate data.
The second approach is the molecular characterisation of the 25% extreme cohort (AMC and UMC) using WGS (Whole Genome Sequencing) and linkage analysis.
Finally subjects peripheral blood mononuclear cells (PBMCs) of 10 severely affected mutation carrier (AMC) and 10 unaffected mutation carriers (UMC) as well as 2 controls will be reprogrammed to iPSCs (induced Pluripotential Stem Cells). These cells will finally be differentiated into VSMC's (VasculairSmoth Muscle Cells). The genomic integrity and identity of the iPSCs and the VSMCs will be validated using RT-PCR and immunocytochemistry.
Transcriptomic (i.e. RNA-sequencing) data will be acquired from these specific induced pluripotent stem cell-derived vascular smooth muscle cells (iPSC-VSMCs).
We will be able to filter the WGS data based on variant quality and location in genes that are differentially expressed when comparing the AMC and UMC iPSC-VSMCs, via the synchronization of both data types. This approach will allow us to identify the modifier gene. Once candidate modifier genes (and hence candidate modifier variants) have been identified, their modifying capacity will be functionally checked in relevant cell- or animal models. The choice of the model system will be determined based on the nature of the identified modifier. In an animal model, we will prove its effect by crossing an animal carrying the variant of interest with a MFS model, which should significantly alter the cardiovascular phenotype. Depending on the function and evolutionary conservation of the identified modifier gene, zebrafish or mouse models will be used.
Alternatively, the identified modifier will be functionally validated using the cutting-edge CRISPR/Cas9 genome editing technology in the available and thoroughly functionally characterized iPSC-VSMC lines.
Further evidence for a modifying role of the most interesting candidate genes will be obtained by performing targeted re-sequencing of these genes' coding and regulatory sequences in, again, the 25% most and least severely cardiovascular affected MFS cases of a large replication cohort consisting of more than 3000 clinically and molecularly (FBN1 mutation-positive) characterized index cases.
Whenever possible, segregation of the remaining candidate modifier variants with protection from TAAD will be investigated in available gDNA samples of the probands' relatives carrying the FBN1 mutation.
- Conditions
- Marfan Syndrome, FBN1 Mutation
- Being tested
- Saliva collection (screening of all participants), Bloodsampling
- Keywords
- p.Ile2585Thr;c.7754T>C, Rare disease, Aortopathies, TAAD, Congenital abnormalities, Genetic modifiers, Thoracic aortic disease, Thoracic aortic rupture
- Medical subject headings
- Marfan Syndrome, Rare Diseases, Congenital Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Saliva collection (screening of all participants)Genetic
All participants will give a salive sample (self-sampling kit) - selection of 25% extremes (UMC and AMC) participants for WGS and linkage analysis
BloodsamplingGenetic
Based on the results of the WGS, a selection will be made of the 5% most extremes (UMC and AMC) participants for the iPSC-VSMC generation
| Study group | Role | What they receive |
|---|---|---|
| AMC (Affected Mutation Carrier) | FBN1 mutation (Marfan Syndrome) - Phenotype cardiovascular severe outcome Receives: Genetic: Saliva collection (screening of all participants); Genetic: Bloodsampling | |
| UMC (Unaffected Mutation Carrier) | FBN1 mutation (Marfan Syndrome) - Phenotype cardiovascular mild outcome Receives: Genetic: Saliva collection (screening of all participants); Genetic: Bloodsampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Molecular characterization of the assembled 25% extreme ends cohort (UMC and AMC).
Whole Genome Sequencing (WGS) and linkage analysis will be used for this purpose
Measured: September 2023
Secondary outcomes (3)
Omics integration for modifier identification in the 5% extreme ends of the cohort (UMC and AMC)
The modifier genes will be identified by the generation of iPSC-VSMC's of MFS individuals from the 5% extreme ends of the spectrum.
Measured: September 2023
Functional validation of the modifiers.
For the validation of the modifiers the CRISP/Cas9 gene editing technology will be used.
Measured: 2024
Replication of the identified modifiers in a large MFS cohort Time frame: December 2024
The evidence for a modifying role of the most interesting candidate genes will be obtained by performing targeted re-sequencing of these genes again in the 25% most and least severely cardiovascular affected MFS cases of a large replication cohort consisting of more than 3000 clinically and molecularly characterized index participants.
Measured: 2024
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Feb 2024
- Study start30 Nov 2020
- Primary completion31 Oct 2025 (estimated)
- Study completion31 Oct 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, AntwerpThe 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
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Antwerp
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital, Ghent
- Responsible party
- Sponsor
- Investigators
- Bart Loeys, Prof,MD,PhD, Principal investigator, University Hospital, AntwerpPaul Coucke, Prof,MD,Ing, Study chair, University Hospital, Ghent
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06257004
- Sponsor's protocol ID
- 20/08/087
- Other IDs
- 1S81820N, B3002021000292
- Acronym
- GEMS
- Status last verified
- Jan 2024
- First submitted
- 5 Feb 2024
- Last updated
- 13 Feb 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Verstraeten A, Luyckx I, Loeys B. Aetiology and management of hereditary aortopathy. Nat Rev Cardiol. 2017 Apr;14(4):197-208. doi: 10.1038/nrcardio.2016.211. Epub 2017 Jan 19.
PubMed 28102232von Kodolitsch Y, De Backer J, Schuler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kolbel T, Puschel K, Blankenberg S, Robinson PN. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 2015 Jun 16;8:137-55. doi: 10.2147/TACG.S60472. eCollection 2015.
PubMed 26124674Groth KA, Gaustadnes M, Thorsen K, Ostergaard JR, Jensen UB, Gravholt CH, Andersen NH. Difficulties in diagnosing Marfan syndrome using current FBN1 databases. Genet Med. 2016 Jan;18(1):98-102. doi: 10.1038/gim.2015.32. Epub 2015 Mar 26.
PubMed 25812041Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.
PubMed 20591885Braverman AC. Medical management of thoracic aortic aneurysm disease. J Thorac Cardiovasc Surg. 2013 Mar;145(3 Suppl):S2-6. doi: 10.1016/j.jtcvs.2012.11.062. Epub 2012 Dec 20.
PubMed 23260459De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007 Sep;72(3):188-98. doi: 10.1111/j.1399-0004.2007.00845.x.
PubMed 17718856Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, Garcia Dorado D, Pals G, Mulder BJ, Evangelista A. Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. Heart. 2017 Nov;103(22):1795-1799. doi: 10.1136/heartjnl-2016-310631. Epub 2017 May 3.
PubMed 28468757Renard M, Muino-Mosquera L, Manalo EC, Tufa S, Carlson EJ, Keene DR, De Backer J, Sakai LY. Sex, pregnancy and aortic disease in Marfan syndrome. PLoS One. 2017 Jul 14;12(7):e0181166. doi: 10.1371/journal.pone.0181166. eCollection 2017.
PubMed 28708846Granata A, Serrano F, Bernard WG, McNamara M, Low L, Sastry P, Sinha S. An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. Nat Genet. 2017 Jan;49(1):97-109. doi: 10.1038/ng.3723. Epub 2016 Nov 28.
PubMed 27893734
Study at a glance
From the registry record, last updated by the sponsor on 13 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
- ClinicalTrials.gov ID
- NCT06257004
- Acronym / sponsor ID
- GEMS / 20/08/087
- Conditions
- Marfan Syndrome, FBN1 Mutation
- Keywords
- p.Ile2585Thr;c.7754T>C, Rare disease, Aortopathies, TAAD, Congenital abnormalities, Genetic modifiers, Thoracic aortic disease, Thoracic aortic rupture
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University Hospital, AntwerpUniversity, hospital or other
- Collaborators
- University Hospital, Ghent
- Study start
- 30 Nov 2020 (actual)
- Primary completion
- 31 Oct 2025 (estimated)
- Study completion
- 31 Oct 2025 (estimated)
- First posted
- 13 Feb 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.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems. Morbidity and mortality are mostly determined by aortic root aneurysm dissection and rupture. Although mutations in FBN1, the gene coding for the extracellular matrix protein fibrillin-1, are the well-established genetic cause of this condition, there is a very poor correlation between the nature or location of the causal FBN1 mutation and the phenotypical outcome. Indeed, wide intra- and interfamilial phenotypical variability is observed. So, even with an identical primary mutation in all family members, the clinical spectrum varies widely, from completely asymptomatic to sudden death due to aortic dissection at a young age. The precise mechanisms underlying this variability remain largely elusive.
Consequently, a better understanding of the functional effects of the primary mutation is highly needed and the identification of genetic variation that modifies these effects is becoming increasingly important. In this project, we have carefully selected different innovative strategies to discover mother nature's own modifying capabilities with respect to Marfan syndrome aortopathy.
Detailed description
In this project we will focus on the cardiovascular, or more specific, the TAAD (Thoracal Aorta Aneurysma Dissection) expressivity of the Marfan syndrome. The most frequent mutations in FBN1 (fibrilin-1 ), with significant aortopathy expressivity is p.Ile2585Thr; c.7754T>C and p.Ala882Val; c.2645C>T). We will limit the used population to p.Ile2585Thr; c.7754T>C mutation since this is the biggest population.
Marfan syndrome subjects carrying an identical FBN1 mutation show a variable aortopathy expressivity, even within one family. We hypothesize that the cardiovascular phenotypical variability is under control of genetic modifiers.
The first approach strategy involves ranking of carriers of the specific FBN1 mutation that present with significant variable aortopathy expressivity according to the severity of aortic aneurysma disease (based on Z-score, timing of surgery and manual expert curation). We will stratify these mutation carrying individuals in three groups: mild or no aortic disease (UMC, unaffected mutation carrier)), severely affected (AMC, affected mutation carrier), and participants with indeterminate data.
The second approach is the molecular characterisation of the 25% extreme cohort (AMC and UMC) using WGS (Whole Genome Sequencing) and linkage analysis.
Finally subjects peripheral blood mononuclear cells (PBMCs) of 10 severely affected mutation carrier (AMC) and 10 unaffected mutation carriers (UMC) as well as 2 controls will be reprogrammed to iPSCs (induced Pluripotential Stem Cells). These cells will finally be differentiated into VSMC's (VasculairSmoth Muscle Cells). The genomic integrity and identity of the iPSCs and the VSMCs will be validated using RT-PCR and immunocytochemistry.
Transcriptomic (i.e. RNA-sequencing) data will be acquired from these specific induced pluripotent stem cell-derived vascular smooth muscle cells (iPSC-VSMCs).
We will be able to filter the WGS data based on variant quality and location in genes that are differentially expressed when comparing the AMC and UMC iPSC-VSMCs, via the synchronization of both data types. This approach will allow us to identify the modifier gene. Once candidate modifier genes (and hence candidate modifier variants) have been identified, their modifying capacity will be functionally checked in relevant cell- or animal models. The choice of the model system will be determined based on the nature of the identified modifier. In an animal model, we will prove its effect by crossing an animal carrying the variant of interest with a MFS model, which should significantly alter the cardiovascular phenotype. Depending on the function and evolutionary conservation of the identified modifier gene, zebrafish or mouse models will be used.
Alternatively, the identified modifier will be functionally validated using the cutting-edge CRISPR/Cas9 genome editing technology in the available and thoroughly functionally characterized iPSC-VSMC lines.
Further evidence for a modifying role of the most interesting candidate genes will be obtained by performing targeted re-sequencing of these genes' coding and regulatory sequences in, again, the 25% most and least severely cardiovascular affected MFS cases of a large replication cohort consisting of more than 3000 clinically and molecularly (FBN1 mutation-positive) characterized index cases.
Whenever possible, segregation of the remaining candidate modifier variants with protection from TAAD will be investigated in available gDNA samples of the probands' relatives carrying the FBN1 mutation.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| AMC (Affected Mutation Carrier) | – | Genetic: Saliva collection (screening of all participants), Genetic: BloodsamplingFBN1 mutation (Marfan Syndrome) - Phenotype cardiovascular severe outcome |
| UMC (Unaffected Mutation Carrier) | – | Genetic: Saliva collection (screening of all participants), Genetic: BloodsamplingFBN1 mutation (Marfan Syndrome) - Phenotype cardiovascular mild outcome |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- participants with Marfan syndrom
Key inclusion criteria (1 listed)
- Participants with proven mutation (p.Ile2585Thr;c.7754C>T) in the FBN1 gene
Key exclusion criteria (1 listed)
- -
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 |
|---|---|---|
| Saliva collection (screening of all participants)All participants will give a salive sample (self-sampling kit) - selection of 25% extremes (UMC and AMC) participants for WGS and linkage analysis | Genetic | AMC (Affected Mutation Carrier), UMC (Unaffected Mutation Carrier) |
| BloodsamplingBased on the results of the WGS, a selection will be made of the 5% most extremes (UMC and AMC) participants for the iPSC-VSMC generation | Genetic | AMC (Affected Mutation Carrier), UMC (Unaffected Mutation Carrier) |
Primary outcome
Molecular characterization of the assembled 25% extreme ends cohort (UMC and AMC).
Time frame: September 2023
Whole Genome Sequencing (WGS) and linkage analysis will be used for this purpose
3 secondary outcomes
Omics integration for modifier identification in the 5% extreme ends of the cohort (UMC and AMC)
Time frame: September 2023
Functional validation of the modifiers.
Time frame: 2024
Replication of the identified modifiers in a large MFS cohort Time frame: December 2024
Time frame: 2024
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Feb 2024.
- Background: PubMed 28102232Verstraeten A, Luyckx I, Loeys B. Aetiology and management of hereditary aortopathy. Nat Rev Cardiol. 2017 Apr;14(4):197-208. doi: 10.1038/nrcardio.2016.211. Epub 2017 Jan 19.
- Background: PubMed 26124674von Kodolitsch Y, De Backer J, Schuler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kolbel T, Puschel K, Blankenberg S, Robinson PN. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 2015 Jun 16;8:137-55. doi: 10.2147/TACG.S60472. eCollection 2015.
- Background: PubMed 25812041Groth KA, Gaustadnes M, Thorsen K, Ostergaard JR, Jensen UB, Gravholt CH, Andersen NH. Difficulties in diagnosing Marfan syndrome using current FBN1 databases. Genet Med. 2016 Jan;18(1):98-102. doi: 10.1038/gim.2015.32. Epub 2015 Mar 26.
- Background: PubMed 20591885Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.
- Background: PubMed 23260459Braverman AC. Medical management of thoracic aortic aneurysm disease. J Thorac Cardiovasc Surg. 2013 Mar;145(3 Suppl):S2-6. doi: 10.1016/j.jtcvs.2012.11.062. Epub 2012 Dec 20.
- Background: PubMed 17718856De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet. 2007 Sep;72(3):188-98. doi: 10.1111/j.1399-0004.2007.00845.x.
- Background: PubMed 28468757Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, Garcia Dorado D, Pals G, Mulder BJ, Evangelista A. Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. Heart. 2017 Nov;103(22):1795-1799. doi: 10.1136/heartjnl-2016-310631. Epub 2017 May 3.
- Background: PubMed 28708846Renard M, Muino-Mosquera L, Manalo EC, Tufa S, Carlson EJ, Keene DR, De Backer J, Sakai LY. Sex, pregnancy and aortic disease in Marfan syndrome. PLoS One. 2017 Jul 14;12(7):e0181166. doi: 10.1371/journal.pone.0181166. eCollection 2017.
- Background: PubMed 27893734Granata A, Serrano F, Bernard WG, McNamara M, Low L, Sastry P, Sinha S. An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. Nat Genet. 2017 Jan;49(1):97-109. doi: 10.1038/ng.3723. Epub 2016 Nov 28.
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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.
Bart Loeys, Prof,MD,PhD principal investigator
University Hospital, Antwerp
Paul Coucke, Prof,MD,Ing study chair
University Hospital, Ghent
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 Marfan Syndrome and FBN1 Mutation, run by University Hospital, Antwerp at 1 site in Belgium.
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: status not confirmed, as of the sponsor's last update on 13 Feb 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 Belgium. 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?
Contact Bart Loeys, Prof,MD,PhD (++32-3-2759768, bart.loeys@uantwerpen.be), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Molecular characterization of the assembled 25% extreme ends cohort (UMC and AMC). (time frame: September 2023). 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 NCT06257004, which also lists 9 linked publications.
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 13 Feb 2024.