Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSsBlood GenomeNCT02534519
Whole Genome Sequencing for Blood Group Genotyping and Definition as Exemplified on U- and St(a)+.
An observational study of Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs, run by Blood Donation Service Zurich, SRC at 1 site in Switzerland.
Trial summary
No health condition(s) are studied. Genetic background of blood groups is studied. U- and Stones(a)+ ("Caucasian type") are used as proof-of-principle samples. Disease associations of all blood group genes investigated are very rare, e.g. Read more about this study
- Who is it for?
- Ages 1 year to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs
- What is being tested?
- Whole Genome Sequencing (WGS)
- How many people
- 8 participants
- Where
- 1 siteSwitzerland
- Study dates
- Jul 2015to Jun 2018
- How long will I take part?
- 1 Day
- 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 1 year to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Genomic DNA of 2 U- samples were both provided as blinded reference material from New York and Vienna blood centres, respectively. Both donors are lost for follow up, and although there is no documented evidence for refusal of the respective donors to use their material in research projects, samples still lack informed consent. Additional reference samples (n max=4), and samples with suspected Stones(a)+ (n max=4) will be recruited from Zurich blood donors with informed consent, only
Who may be able to join
- Existing biomaterial (gDNA), or
- Existing health related data for blood group U- (n max=2) and eligible for (venous) blood sampling of 20 mL, or
- Existing blood group pheno- and genotyping data indicating St(a)+ and eligible for (venous) blood sampling of 20 mL (n max=2), or
- Adequate blood group profile serving as reference (n max =4 \& n max =4'000) and eligible for (venous) blood sampling of 20 mL.
Who cannot join
- Ineligible for venous blood sampling of approx. 20 mL.
Trial locations and contacts
1 site in 1 country.
Switzerland1 site, 1 recruiting
- Recruiting
Blutpende Zürich, Dienstleistungszentrum
Schlieren, Canton of Zurich, 8952
Christoph Gassner, PhD, +41 58 272 5195, c.gassner@zhbsd.ch
About this study
Official title: Applicability of Whole Genome Sequencing for Human Blood Group Genotyping and Genetic Definition of New Alleles as Exemplified on References and the Two MNSs-variants: U- and Stones(a)+
No health condition(s) are studied. Genetic background of blood groups is studied. U- and Stones(a)+ ("Caucasian type") are used as proof-of-principle samples. Disease associations of all blood group genes investigated are very rare, e.g. < 1 among 1'000 Swiss individuals (see table 1), and are not to be expected in the course of this study.
Genomic DNA of 2 U- samples were both provided as blinded reference material from New York and Vienna blood centres, respectively. Both donors are lost for follow up, and although there is no documented evidence for refusal of the respective donors to use their material in research projects, samples still lack informed consent.
Read the detailed description
All 34 human blood group systems have at least two antithetical antigens and are of potential relevance during pregnancy and transfusion. Fortunately for every day routine practice, immunizations to foreign antigens are rare. Still, incompatibilities may occur in all blood group systems and will then require typing for the respective blood group antigens.
Blood genotyping evolved as the method of choice, in cases when typing reagents are commercially unavailable, or blood is inaccessible (foetus). In databases, most entries of blood group genes lack representative polymorphism (e.g. number of alleles). Moreover, many blood group antigens are insufficiently described in their intronic and inter-genetic sequences. This is true for results of unequal crossing-overs, gene-conversions and large insertions/deletions between highly homologous genes, especially within the blood group systems of Rhesus, e.g. RhD/RhCE and MN/Ss, respectively. Only Whole Genome Sequencing (WGS) allows for resolution of both problems: it delivers the whole blood group genome of an individual, and simultaneously recognizes new blood group alleles, or haplotypes. This request for ethical approval wants to test this assumption.
The antigenic determinants U- and Stones(a)+ of the blood group system MNSs still lack full genetic description and will serve as challenging examples for the description of new alleles (haplotypes) caused by large ins/del mutations of the two highly homologous genes GYPA and B. Genomic DNA of 2 U- samples were both provided as blinded reference material from New York and Vienna blood centres, respectively. Both donors are lost for follow up, and although there is no documented evidence for refusal of the respective donors to use their material in research projects, samples still lack informed consent. Additional reference samples (n max=4), and samples with suspected Stones(a)+ (n max=4) will be recruited from Zurich blood donors with informed consent, only.
- Being tested
- Whole Genome Sequencing (WGS)
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole Genome Sequencing (WGS)Other
There will be no interventions needed other than blood sampling (20 mL blood) in the course of routine blood donation (450 mL blood) for 8 out of 10 individuals planned to be included as specimen, or reference samples in the study.
| Study group | Role | What they receive |
|---|---|---|
| people negative in bg MNSs antigen U | Blood group (bg) system MNSs. Individuals with phenotype "U-". Homo- and heterozygous individuals may be considered. Receives: Other: Whole Genome Sequencing (WGS) | |
| people positive in bg MNSs antigen St(a) | Blood group (bg) system MNSs. Individuals with phenotype "St(a)+". Homo- and heterozygous individuals may be considered. Receives: Other: Whole Genome Sequencing (WGS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Whole Genome Sequencing for the definition of genetic background for blood group antigens U-, St(a)+
During a 2 year time-period, whole genome sequencing data generation and analysis will be used for the analysis and description of the genetic background for the blood group antigens U negativity, and for St(a).
Measured: 2 year period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Aug 2015 (estimated)
- Study startJul 2015
- Primary completionJun 2016 (estimated)
- Study completionJun 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSsStudies 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
- Observational
- Observational model
- Case-control
- Enrolment
- 8 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- Blood Donation Service Zurich, SRC
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christoph Gassner, Blood Donation Service Zurich, SRC
- Investigators
- Christoph Gassner, PhD, Principal investigator, Blutspende Zürich, Dienstleistungszentrum
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02534519
- Sponsor's protocol ID
- KEK-ZH-Nr. 2014-0408
- Acronym
- Blood Genome
- Status last verified
- Aug 2015
- First submitted
- 10 Aug 2015
- Last updated
- 27 Aug 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Applicability of Whole Genome Sequencing for Human Blood Group Genotyping and Genetic Definition of New Alleles as Exemplified on References and the Two MNSs-variants: U- and Stones(a)+
- ClinicalTrials.gov ID
- NCT02534519
- Acronym / sponsor ID
- Blood Genome / KEK-ZH-Nr. 2014-0408
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- Blood Donation Service Zurich, SRCUniversity, hospital or other
- Study start
- Jul 2015
- Primary completion
- Jun 2016 (estimated)
- Study completion
- Jun 2018 (estimated)
- First posted
- 27 Aug 2015 (estimated)
- 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.
No health condition(s) are studied. Genetic background of blood groups is studied. U- and Stones(a)+ ("Caucasian type") are used as proof-of-principle samples. Disease associations of all blood group genes investigated are very rare, e.g. < 1 among 1'000 Swiss individuals (see table 1), and are not to be expected in the course of this study.
Genomic DNA of 2 U- samples were both provided as blinded reference material from New York and Vienna blood centres, respectively. Both donors are lost for follow up, and although there is no documented evidence for refusal of the respective donors to use their material in research projects, samples still lack informed consent.
Detailed description
All 34 human blood group systems have at least two antithetical antigens and are of potential relevance during pregnancy and transfusion. Fortunately for every day routine practice, immunizations to foreign antigens are rare. Still, incompatibilities may occur in all blood group systems and will then require typing for the respective blood group antigens.
Blood genotyping evolved as the method of choice, in cases when typing reagents are commercially unavailable, or blood is inaccessible (foetus). In databases, most entries of blood group genes lack representative polymorphism (e.g. number of alleles). Moreover, many blood group antigens are insufficiently described in their intronic and inter-genetic sequences. This is true for results of unequal crossing-overs, gene-conversions and large insertions/deletions between highly homologous genes, especially within the blood group systems of Rhesus, e.g. RhD/RhCE and MN/Ss, respectively. Only Whole Genome Sequencing (WGS) allows for resolution of both problems: it delivers the whole blood group genome of an individual, and simultaneously recognizes new blood group alleles, or haplotypes. This request for ethical approval wants to test this assumption.
The antigenic determinants U- and Stones(a)+ of the blood group system MNSs still lack full genetic description and will serve as challenging examples for the description of new alleles (haplotypes) caused by large ins/del mutations of the two highly homologous genes GYPA and B. Genomic DNA of 2 U- samples were both provided as blinded reference material from New York and Vienna blood centres, respectively. Both donors are lost for follow up, and although there is no documented evidence for refusal of the respective donors to use their material in research projects, samples still lack informed consent. Additional reference samples (n max=4), and samples with suspected Stones(a)+ (n max=4) will be recruited from Zurich blood donors with informed consent, only.
Study design
- Observational model
- Case-control
- Target follow-up
- 1 Day
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| people negative in bg MNSs antigen U | – | Other: Whole Genome Sequencing (WGS)Blood group (bg) system MNSs. Individuals with phenotype "U-". Homo- and heterozygous individuals may be considered. |
| people positive in bg MNSs antigen St(a) | – | Other: Whole Genome Sequencing (WGS)Blood group (bg) system MNSs. Individuals with phenotype "St(a)+". Homo- and heterozygous individuals may be considered. |
Who may qualify
- Ages
- 1 year to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Genomic DNA of 2 U- samples were both provided as blinded reference material from New York and Vienna blood centres, respectively. Both donors are lost for follow up, and although there is no documented evidence for refusal of the respective donors to use their material in research projects, samples still lack informed consent. Additional reference samples (n max=4), and samples with suspected Stones(a)+ (n max=4) will be recruited from Zurich blood donors with informed consent, only
Key inclusion criteria (4 listed)
- Existing biomaterial (gDNA), or
- Existing health related data for blood group U- (n max=2) and eligible for (venous) blood sampling of 20 mL, or
- Existing blood group pheno- and genotyping data indicating St(a)+ and eligible for (venous) blood sampling of 20 mL (n max=2), or
- Adequate blood group profile serving as reference (n max =4 \& n max =4'000) and eligible for (venous) blood sampling of 20 mL.
Key exclusion criteria (1 listed)
- Ineligible for venous blood sampling of approx. 20 mL.
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 Genome Sequencing (WGS)There will be no interventions needed other than blood sampling (20 mL blood) in the course of routine blood donation (450 mL blood) for 8 out of 10 individuals planned to be included as specimen, or reference samples in the study. | Other | people negative in bg MNSs antigen U, people positive in bg MNSs antigen St(a) |
Primary outcome
Whole Genome Sequencing for the definition of genetic background for blood group antigens U-, St(a)+
Time frame: 2 year period
During a 2 year time-period, whole genome sequencing data generation and analysis will be used for the analysis and description of the genetic background for the blood group antigens U negativity, and for St(a).
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2015.
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.
Christoph Gassner, PhD principal investigator
Blutspende Zürich, Dienstleistungszentrum
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 Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs, run by Blood Donation Service Zurich, SRC 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 4 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 27 Aug 2015. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Christoph Gassner, PhD (+41 58 272 5195, c.gassner@zhbsd.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Whole Genome Sequencing for the definition of genetic background for blood group antigens U-, St(a)+ (time frame: 2 year period). 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 Aug 2015.