Low Von Willebrand FactorLOVMICNCT05116501
Genetic Background of Patients With Low Von Willebrand Factor Levels
A study testing Whole-exome sequencing in people with Low Von Willebrand Factor, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site in Italy.
Trial summary
Von Willebrand disease (VWD) is caused by either quantitative or qualitative von Willebrand (VWF) defects and is the commonest inherited bleeding disorder with an estimated prevalence of about 1% in the general population. Read more about this study
- Who is it for?
- Ages 18 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Low Von Willebrand Factor
- What is being tested?
- Whole-exome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 254 participants
- Where
- 1 siteItaly
- Study dates
- 1 Mar 2022to 31 Oct 2025
- 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 18 to 80 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Adult patients who were diagnosed with "low VWF" and have VWF:Ag and/or VWF:RCo between 30-50 IU/dL with a ratio of VWF:RCo/VWF:Ag > 0.6.
- Subjects who have given informed consent to participate in the study according to the Declaration of Helsinki
- Healthy subjects with no known bleeding disorders and with negative thrombophilia screening results
- Subjects who have given informed consent to participate in the study according to the Declaration of Helsinki
Who cannot join
- Pregnant women
- Patients with acquired von Willebrand disease syndrome
Trial locations and contacts
1 site in 1 country.
Italy1 site
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, A.B.Bonomi Hemophilia and Thrombosis Center
Milan, Lombardy, 20122
About this study
Official title: Novel Insights Into the Genetic Background of Patients With Low Von Willebrand Factor Levels Using Next-generation Sequencing
Von Willebrand disease (VWD) is caused by either quantitative or qualitative von Willebrand (VWF) defects and is the commonest inherited bleeding disorder with an estimated prevalence of about 1% in the general population. According to several guidelines, patients with a mild quantitative reduction in VWF (30-50 IU/dL) should be labeled as "low VWF". Quantitatively VWF defects account for almost 75% of all cases with VWD and among them, low VWF seems to be the most common form. Studies on patients with VWD reported only around 50% VWF mutations in low VWF cases indicating that some possible genes outside of the VWF gene may be responsible for the low VWF levels. To date, using genome-wide association study (GWAS) more than 19 non-VWF loci (such as ABO blood group system, Stabilin 2, Scavenger Receptor Class A Member 5, C-Type Lectin Domain Family 4 Member M, etc.) were identified to be associated with VWF levels. The identified genes are related to different mechanisms of the VWF life-cycle such as synthesis, secretion, glycosylation, or clearance. Despite the importance of the genetic background of low VWF levels for understanding its etiology, this issue is not well investigated yet. Thus the Low VWF Milan Cohort (LOVMIC) Study is designed to address some unanswered questions in patients with low VWF.
Read the detailed description
Despite the absence of mutation in the VWF gene in a significant number of individuals with reduced VWF levels and also the lack of knowledge for the responsible mechanisms, this study sought to determine the following goals:
- Evaluation of the genetic background of low VWF level dilemma and identifying the gene (s) outside of the VWF gene that is associated with decreased VWF levels.
- Evaluating the correlation between candidate variants and patients' bleeding manifestations.
Study design:
Non-pharmacological Interventional National Monocentric Study. Promoter: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Coordinating center and patient recruitment unit: Department of General Medicine - Hemostasis and Thrombosis - Angelo Bianchi Bonomi Hemophilia and Thrombosis Center
Setting: outpatients' clinic
The study population will be selected from the referral adult patients/healthy controls to the A. Bianchi Bonomi Hemophilia and Thrombosis Center in Fondazione IRCCS Ca' Granda Maggiore Policlinic hospital.
Recruiting method:
Selected patients (base on the previous laboratory results) will be invited to participate in the study by physicians at the center through phone calls. Also, normal controls (age- and sex-matched with patients) will be enrolled in the study. Data regarding the healthy controls will be obtained either from the available public database or obtained by evaluation of collected samples from the normal subjects who have been selected by the A. Bianchi Bonomi Hemophilia and Thrombosis Center.
Enrolment, visit, and blood samples collection:
Following the agreement of patients for participating in the study and signing the informed consent, 3 tubes (each 3.5 ml) of the blood sample will be collected for performing VWD-related laboratory tests (VWF antigen (VWF:Ag), VWF ristocetin cofactor (VWF:RCo), Factor VIII clotting assay (FVIII:C)) and Whole-exome sequencing (WES). In addition, a routinely clinical examination will be done by specialized physicians, according to a Case Report Form (CRF) to collect the data regarding age, sex, blood group, and clinical manifestations including the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH-BAT).
Genetic analysis:
- Genomic DNA will be extracted using the automated instrument from QIAGEN available in the central genetic laboratory at the Fondazione IRCCS Ca' Granda Maggiore Policlinic hospital
- WES will be performed on all samples using NextSeq 2000 instrument in the central genetic laboratory at the Fondazione IRCCS Ca' Granda Maggiore Policlinic hospital.
- Data will be analyzed following the same strategy in both cases and controls. First, the VWF gene will be evaluated. Then, the analysis will be extended to the other genes that were previously described as related to VWF level variations. Lastly, exome data will be considered.
- The association between VWF levels and candidate variants will be assessed.
- All analyses will be performed considering variants' minor allele frequency (MAF), age, sex, ABO to control for confounding.
- Conditions
- Low Von Willebrand Factor
- Being tested
- Whole-exome sequencing
- Keywords
- von Willebrand factor, VWF, Von Willebrand disease, VWD, Low VWF, NGS, Whole exome sequencing
- Medical subject headings
- von Willebrand Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole-exome sequencingDiagnostic test
Whole Exome Sequencing (WES), as a comprehensive genetic test, will be used to identify changes in a patient's DNA that are causative or related to patient's low VWF levels.
| Study group | Role | What they receive |
|---|---|---|
| low VWF | Experimental | In patients with low VWF levels, whole-exome sequencing will be performed to identity possible variants in the VWF gene or other genes that are associated with reduced VWF plasma levels. Furthermore, a correlation study between variants identified and the bleeding symptoms of patients will be performed. Receives: Diagnostic Test: Whole-exome sequencing |
| Healthy controls | Other | In healthy controls, the investigators will analyze the whole-exome sequencing to include the variants that are either not present in healthy controls or are present but with a significantly lower frequency than the patients. Receives: Diagnostic Test: Whole-exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic variants in the VWF gene or other genes associated with low VWF plasma levels
More than 19 different genes have been identified by genome-wide association studies that affect the plasma VWF levels. These genes (in addition to VWF) are including STXBP5, SCARA5, ABO, STAB2, STX2, TCN2, CLEC4M, PDHB/PXK/KCTD6, SLC39A8, FCHO2/TMEM171/TNPO1, HLA, GIMAP7/GIMAP4, OR13C5/NIPSNAP, DAB2IP, C2CD4B, RAB5C-KAT2A, TAB1/SYNGR1, and ARSA. Some studies showed an association between specific variants with a minor allele frequency (MAF) > 10% and the reduction of VWF levels or severe clinical symptoms in patients with VWD.
As a primary outcome, whole-exome sequencing will be carried out in 300 subjects (150 patients and 150 healthy controls) to identify variants either in the VWF gene or the aforementioned genes or some new genes that are associated with reduced VWF levels in plasma.
Measured: 8 months after starting the project
Secondary outcomes (1)
Correlation between the bleeding presentation and identified variants in patients with low VWF
As the second outcome, the association between the identified potential variants and patient bleeding manifestations will be evaluated. The ISTH-BAT is used to quantify bleeding symptoms.
Measured: 12 months after starting the project
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Nov 2021
- Study start1 Mar 2022
- Primary completion30 Oct 2024
- Study completion31 Oct 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Low Von Willebrand FactorStudies of the same condition, open and under way.
- More trials run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 254 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Flora Peyvandi, MD, PhD, Principal investigator, A.Bonomi Hemophilia and Thrombosis Center, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05116501
- Sponsor's protocol ID
- 2392
- Acronym
- LOVMIC
- Status last verified
- Sep 2021
- First submitted
- 27 Sep 2021
- Last updated
- 8 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: All data, including exposure and outcomes, will be collected based on a Case report form (CRF) and thereafter they will be reported on a computer database. Each process to promote data quality will be guaranteed. In particular, data insertion and correction will be performed by the principal investigator (PI) or by those investigators designated by the PI and all data will be securely stored to ensure complete pseudonymization. The insertion of all the data in the CRF and the computer database will be performed correctly and accurately according to the source documentation (medical reports and records). In case of a lack of data, and accurate motivation will be provided (not available/not requested from the patient).
Publications
James PD, Connell NT, Ameer B, Di Paola J, Eikenboom J, Giraud N, Haberichter S, Jacobs-Pratt V, Konkle B, McLintock C, McRae S, R Montgomery R, O'Donnell JS, Scappe N, Sidonio R, Flood VH, Husainat N, Kalot MA, Mustafa RA. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):280-300. doi: 10.1182/bloodadvances.2020003265.
PubMed 33570651Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987 Feb;69(2):454-9.
PubMed 3492222Laffan MA, Lester W, O'Donnell JS, Will A, Tait RC, Goodeve A, Millar CM, Keeling DM. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol. 2014 Nov;167(4):453-65. doi: 10.1111/bjh.13064. Epub 2014 Aug 12. No abstract available.
PubMed 25113304Lavin M, Aguila S, Schneppenheim S, Dalton N, Jones KL, O'Sullivan JM, O'Connell NM, Ryan K, White B, Byrne M, Rafferty M, Doyle MM, Nolan M, Preston RJS, Budde U, James P, Di Paola J, O'Donnell JS. Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood. 2017 Nov 23;130(21):2344-2353. doi: 10.1182/blood-2017-05-786699. Epub 2017 Sep 15.
PubMed 28916584Flood VH, Christopherson PA, Gill JC, Friedman KD, Haberichter SL, Bellissimo DB, Udani RA, Dasgupta M, Hoffmann RG, Ragni MV, Shapiro AD, Lusher JM, Lentz SR, Abshire TC, Leissinger C, Hoots WK, Manco-Johnson MJ, Gruppo RA, Boggio LN, Montgomery KT, Goodeve AC, James PD, Lillicrap D, Peake IR, Montgomery RR. Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood. 2016 May 19;127(20):2481-8. doi: 10.1182/blood-2015-10-673681. Epub 2016 Feb 9.
PubMed 26862110Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen MH, Vaidya D, Soria JM, Suchon P, van Hylckama Vlieg A, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange PE, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A; INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC); Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JC, Becker LC, Jenny NS, Marz W, Jukema JW, Dehghan A, Tregouet DA, Morrison AC, Johnson AD, O'Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL. Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Circulation. 2019 Jan 29;139(5):620-635. doi: 10.1161/CIRCULATIONAHA.118.034532.
PubMed 30586737
Study at a glance
From the registry record, last updated by the sponsor on 8 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Novel Insights Into the Genetic Background of Patients With Low Von Willebrand Factor Levels Using Next-generation Sequencing
- ClinicalTrials.gov ID
- NCT05116501
- Acronym / sponsor ID
- LOVMIC / 2392
- Conditions
- Low Von Willebrand Factor
- Keywords
- von Willebrand factor, VWF, Von Willebrand disease, VWD, Low VWF, NGS, Whole exome sequencing
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 254 participants (actual)
- Lead sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoUniversity, hospital or other
- Study start
- 1 Mar 2022 (actual)
- Primary completion
- 30 Oct 2024 (actual)
- Study completion
- 31 Oct 2025 (actual)
- First posted
- 11 Nov 2021 (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.
Von Willebrand disease (VWD) is caused by either quantitative or qualitative von Willebrand (VWF) defects and is the commonest inherited bleeding disorder with an estimated prevalence of about 1% in the general population. According to several guidelines, patients with a mild quantitative reduction in VWF (30-50 IU/dL) should be labeled as "low VWF". Quantitatively VWF defects account for almost 75% of all cases with VWD and among them, low VWF seems to be the most common form. Studies on patients with VWD reported only around 50% VWF mutations in low VWF cases indicating that some possible genes outside of the VWF gene may be responsible for the low VWF levels. To date, using genome-wide association study (GWAS) more than 19 non-VWF loci (such as ABO blood group system, Stabilin 2, Scavenger Receptor Class A Member 5, C-Type Lectin Domain Family 4 Member M, etc.) were identified to be associated with VWF levels. The identified genes are related to different mechanisms of the VWF life-cycle such as synthesis, secretion, glycosylation, or clearance. Despite the importance of the genetic background of low VWF levels for understanding its etiology, this issue is not well investigated yet. Thus the Low VWF Milan Cohort (LOVMIC) Study is designed to address some unanswered questions in patients with low VWF.
Detailed description
Despite the absence of mutation in the VWF gene in a significant number of individuals with reduced VWF levels and also the lack of knowledge for the responsible mechanisms, this study sought to determine the following goals:
- Evaluation of the genetic background of low VWF level dilemma and identifying the gene (s) outside of the VWF gene that is associated with decreased VWF levels.
- Evaluating the correlation between candidate variants and patients' bleeding manifestations.
Study design:
Non-pharmacological Interventional National Monocentric Study. Promoter: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Coordinating center and patient recruitment unit: Department of General Medicine - Hemostasis and Thrombosis - Angelo Bianchi Bonomi Hemophilia and Thrombosis Center
Setting: outpatients' clinic
The study population will be selected from the referral adult patients/healthy controls to the A. Bianchi Bonomi Hemophilia and Thrombosis Center in Fondazione IRCCS Ca' Granda Maggiore Policlinic hospital.
Recruiting method:
Selected patients (base on the previous laboratory results) will be invited to participate in the study by physicians at the center through phone calls. Also, normal controls (age- and sex-matched with patients) will be enrolled in the study. Data regarding the healthy controls will be obtained either from the available public database or obtained by evaluation of collected samples from the normal subjects who have been selected by the A. Bianchi Bonomi Hemophilia and Thrombosis Center.
Enrolment, visit, and blood samples collection:
Following the agreement of patients for participating in the study and signing the informed consent, 3 tubes (each 3.5 ml) of the blood sample will be collected for performing VWD-related laboratory tests (VWF antigen (VWF:Ag), VWF ristocetin cofactor (VWF:RCo), Factor VIII clotting assay (FVIII:C)) and Whole-exome sequencing (WES). In addition, a routinely clinical examination will be done by specialized physicians, according to a Case Report Form (CRF) to collect the data regarding age, sex, blood group, and clinical manifestations including the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH-BAT).
Genetic analysis:
- Genomic DNA will be extracted using the automated instrument from QIAGEN available in the central genetic laboratory at the Fondazione IRCCS Ca' Granda Maggiore Policlinic hospital
- WES will be performed on all samples using NextSeq 2000 instrument in the central genetic laboratory at the Fondazione IRCCS Ca' Granda Maggiore Policlinic hospital.
- Data will be analyzed following the same strategy in both cases and controls. First, the VWF gene will be evaluated. Then, the analysis will be extended to the other genes that were previously described as related to VWF level variations. Lastly, exome data will be considered.
- The association between VWF levels and candidate variants will be assessed.
- All analyses will be performed considering variants' minor allele frequency (MAF), age, sex, ABO to control for confounding.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| low VWF | Experimental | Diagnostic Test: Whole-exome sequencingIn patients with low VWF levels, whole-exome sequencing will be performed to identity possible variants in the VWF gene or other genes that are associated with reduced VWF plasma levels. Furthermore, a correlation study between variants identified and the bleeding symptoms of patients will be performed. |
| Healthy controls | Other | Diagnostic Test: Whole-exome sequencingIn healthy controls, the investigators will analyze the whole-exome sequencing to include the variants that are either not present in healthy controls or are present but with a significantly lower frequency than the patients. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Adult patients who were diagnosed with "low VWF" and have VWF:Ag and/or VWF:RCo between 30-50 IU/dL with a ratio of VWF:RCo/VWF:Ag > 0.6.
- Subjects who have given informed consent to participate in the study according to the Declaration of Helsinki
- Healthy subjects with no known bleeding disorders and with negative thrombophilia screening results
- Subjects who have given informed consent to participate in the study according to the Declaration of Helsinki
Key exclusion criteria (2 listed)
- Pregnant women
- Patients with acquired von Willebrand disease syndrome
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 |
|---|---|---|
| Whole-exome sequencingWhole Exome Sequencing (WES), as a comprehensive genetic test, will be used to identify changes in a patient's DNA that are causative or related to patient's low VWF levels. | Diagnostic test | Healthy controls, low VWF |
Primary outcome
Genetic variants in the VWF gene or other genes associated with low VWF plasma levels
Time frame: 8 months after starting the project
More than 19 different genes have been identified by genome-wide association studies that affect the plasma VWF levels. These genes (in addition to VWF) are including STXBP5, SCARA5, ABO, STAB2, STX2, TCN2, CLEC4M, PDHB/PXK/KCTD6, SLC39A8, FCHO2/TMEM171/TNPO1, HLA, GIMAP7/GIMAP4, OR13C5/NIPSNAP, DAB2IP, C2CD4B, RAB5C-KAT2A, TAB1/SYNGR1, and ARSA. Some studies showed an association between specific variants with a minor allele frequency (MAF) > 10% and the reduction of VWF levels or severe clinical symptoms in patients with VWD. As a primary outcome, whole-exome sequencing will be carried out in 300 subjects (150 patients and 150 healthy controls) to identify variants either in the VWF gene or the aforementioned genes or some new genes that are associated with reduced VWF levels in plasma.
1 secondary outcome
Correlation between the bleeding presentation and identified variants in patients with low VWF
Time frame: 12 months after starting the project
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 8 Jun 2026.
- Background: PubMed 33570651James PD, Connell NT, Ameer B, Di Paola J, Eikenboom J, Giraud N, Haberichter S, Jacobs-Pratt V, Konkle B, McLintock C, McRae S, R Montgomery R, O'Donnell JS, Scappe N, Sidonio R, Flood VH, Husainat N, Kalot MA, Mustafa RA. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):280-300. doi: 10.1182/bloodadvances.2020003265.
- Results publication: PubMed 3492222Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987 Feb;69(2):454-9.
- Results publication: PubMed 25113304Laffan MA, Lester W, O'Donnell JS, Will A, Tait RC, Goodeve A, Millar CM, Keeling DM. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol. 2014 Nov;167(4):453-65. doi: 10.1111/bjh.13064. Epub 2014 Aug 12. No abstract available.
- Results publication: PubMed 28916584Lavin M, Aguila S, Schneppenheim S, Dalton N, Jones KL, O'Sullivan JM, O'Connell NM, Ryan K, White B, Byrne M, Rafferty M, Doyle MM, Nolan M, Preston RJS, Budde U, James P, Di Paola J, O'Donnell JS. Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood. 2017 Nov 23;130(21):2344-2353. doi: 10.1182/blood-2017-05-786699. Epub 2017 Sep 15.
- Results publication: PubMed 26862110Flood VH, Christopherson PA, Gill JC, Friedman KD, Haberichter SL, Bellissimo DB, Udani RA, Dasgupta M, Hoffmann RG, Ragni MV, Shapiro AD, Lusher JM, Lentz SR, Abshire TC, Leissinger C, Hoots WK, Manco-Johnson MJ, Gruppo RA, Boggio LN, Montgomery KT, Goodeve AC, James PD, Lillicrap D, Peake IR, Montgomery RR. Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood. 2016 May 19;127(20):2481-8. doi: 10.1182/blood-2015-10-673681. Epub 2016 Feb 9.
- Results publication: PubMed 30586737Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen MH, Vaidya D, Soria JM, Suchon P, van Hylckama Vlieg A, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange PE, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A; INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC); Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JC, Becker LC, Jenny NS, Marz W, Jukema JW, Dehghan A, Tregouet DA, Morrison AC, Johnson AD, O'Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL. Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Circulation. 2019 Jan 29;139(5):620-635. doi: 10.1161/CIRCULATIONAHA.118.034532.
- Individual participant dataSharing planned: No. All data, including exposure and outcomes, will be collected based on a Case report form (CRF) and thereafter they will be reported on a computer database. Each process to promote data quality will be guaranteed. In particular, data insertion and correction will be performed by the principal investigator (PI) or by those investigators designated by the PI and all data will be securely stored to ensure complete pseudonymization. The insertion of all the data in the CRF and the computer database will be performed correctly and accurately according to the source documentation (medical reports and records). In case of a lack of data, and accurate motivation will be provided (not available/not requested from the patient).
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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.
Flora Peyvandi, MD, PhD principal investigator
A.Bonomi Hemophilia and Thrombosis Center, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Whole-exome sequencing in people with Low Von Willebrand Factor, run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico at 1 site in Italy.
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 8 Jun 2026. 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 Italy. 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 variants in the VWF gene or other genes associated with low VWF plasma levels (time frame: 8 months after starting the project). 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 NCT05116501, which also lists 6 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 8 Jun 2026.