NCT02534519

Brief 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. \< 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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
8

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jul 2015

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 1, 2015

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

August 10, 2015

Completed
17 days until next milestone

First Posted

Study publicly available on registry

August 27, 2015

Completed
9 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2016

Completed
2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2018

Completed
Last Updated

August 27, 2015

Status Verified

August 1, 2015

Enrollment Period

11 months

First QC Date

August 10, 2015

Last Update Submit

August 24, 2015

Conditions

Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs

Outcome Measures

Primary Outcomes (1)

  • 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).

    2 year period

Study Arms (2)

people negative in bg MNSs antigen U

Blood group (bg) system MNSs. Individuals with phenotype "U-". Homo- and heterozygous individuals may be considered.

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.

Other: Whole Genome Sequencing (WGS)

Interventions

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.

people negative in bg MNSs antigen Upeople positive in bg MNSs antigen St(a)

Eligibility Criteria

Age1 Year - 70 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
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

You may qualify if:

  • 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.

You may not qualify if:

  • Ineligible for venous blood sampling of approx. 20 mL.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Blutpende Zürich, Dienstleistungszentrum

Schlieren, Canton of Zurich, 8952, Switzerland

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Two times 10 mL EDTA-anticoagulated whole blood and genomic DNA resulting from this amount.

MeSH Terms

Interventions

Whole Genome Sequencing

Intervention Hierarchy (Ancestors)

Sequence Analysis, DNASequence AnalysisGenetic TechniquesInvestigative Techniques

Study Officials

  • Christoph Gassner, PhD

    Blutspende Zürich, Dienstleistungszentrum

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Christoph Gassner, PhD

CONTACT

+41 58 272 5195c.gassner@zhbsd.ch

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Target Duration
1 Day
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Priv. Doz. Mag. Dr. rer. nat. Christoph Gassner

Study Record Dates

First Submitted

August 10, 2015

First Posted

August 27, 2015

Study Start

July 1, 2015

Primary Completion

June 1, 2016

Study Completion

June 1, 2018

Last Updated

August 27, 2015

Record last verified: 2015-08

Locations

CH(1)