Hemophilia Inhibitor Genetics Study (HIGS)

March 24, 2014 updated by: Sharyne M. Donfield, Ph.D., Skane University Hospital
Several non-genetic and genetic factors that could influence the risk of inhibitor development in hemophilia A have been discussed but not fully explored. The aim of the HIGS is to identify these genetic factors.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

The objective of the HIGS is to determine host genetic factors, other than mutations within the factor VIII gene, that are associated with the development of inhibitors in severe hemophilia A and response to antigenic challenge by factor VIII. The study will involve three phases, enrolling family groups composed of brother pairs and their parents (Phase I) and siblings, a family group composed of a person with severe hemophilia and his parents (Phase II), and a group of unrelated people with severe hemophilia for the purpose of confirming associations identified in Phases I and II.

Study Type

Observational

Enrollment (Actual)

1137

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Sweden
      • Malmo, Sweden, SE-205 02
        • Malmö University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

People with hemophilia and their parents.

Description

Inclusion Criteria:

  • Severe hemophilia A is defined as a baseline factor VIII level <1%. A history of inhibitor is defined as ever having a Bethesda titer > 1 BU.

Phase I.

Subjects with hemophilia are eligible for Phase I of the study if all of the following apply:

  • An informed consent form, approved by the appropriate IRB/IEC, has been administered, signed, and dated.
  • The subject has severe hemophilia A.
  • The subject has a history of inhibitor or the subject has no history of inhibitor but has at least 100 exposure days to factor VIII products.
  • Sufficient documentation exists to identify the subject's maximum lifetime Bethesda titer.
  • The subject has a history of inhibitor and has one or more full brothers with severe hemophilia A, with or without an inhibitor, who are eligible for and have agreed to be in the study, and two parents who have agreed to be in the study or the subject does not have a history of inhibitor but has one or more full brothers with severe hemophilia A and a history of inhibitor who are eligible for and have agreed to be in the study, and two parents who have agreed to be in the study.

Subjects without hemophilia are eligible for Phase I of the study if all of the following apply:

  • An informed consent form, approved by the appropriate IRB/IEC, has been administered, signed, and dated.
  • The subject is the parent (mother or father) of, or the full sibling of, a subject with hemophilia who is eligible for Phase I of the study.

Phase II.

Subjects with hemophilia are eligible for Phase II of the study if all of the following apply:

  • An informed consent form, approved by the appropriate IRB/IEC, has been administered, signed, and dated.
  • The subject has severe hemophilia A.
  • The subject has a history of inhibitor and two parents who have agreed to be in the study.
  • Sufficient documentation exists to identify the subject's maximum lifetime Bethesda titer.

Subjects without hemophilia are eligible for Phase II of the study if all of the following apply:

  • An informed consent form, approved by the appropriate IRB/IEC, has been administered, signed, and dated.
  • The subject is the parent (mother or father) of a subject with hemophilia who is eligible for Phase II of the study.

Exclusion Criteria:

Phase I.

Subjects (with or without hemophilia) are excluded from participation in Phase I if:

  • The minimum family group, defined as a pair of full brothers with hemophilia, either concordant (both with) or discordant (one with, one without) for inhibitor, and both of their parents, is not enrolled.

Phase II.

Subjects are excluded from participation in Phase II if:

  • The minimum family group, defined as a person with hemophilia and a history of inhibitor and his mother and father, is not enrolled.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Phase I, II, III
Phase I consists of a brother pair with hemophilia, one or both of whom has a history of inhibitors, and their parents; Phase II consists of a person with hemophilia and an inhibitor, and both his parents; Phase III consists of an unrelated group of people with hemophilia.
Procedure: Blood draw
A single blood draw.
Other Names:
  • N/A to this study.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
development of inhibitory antibodies to factor VIII
Time Frame: upon development of inhibitor or following at least 100 exposure days to factor VIII
upon development of inhibitor or following at least 100 exposure days to factor VIII

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Skane University Hospital

Investigators

  • Principal Investigator: Erik Berntorp, MD, PhD, Skane University Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2003

Primary Completion (Actual)

December 1, 2013

Study Completion (Actual)

December 1, 2013

Study Registration Dates

First Submitted

September 9, 2005

First Submitted That Met QC Criteria

September 9, 2005

First Posted (Estimate)

September 14, 2005

Study Record Updates

Last Update Posted (Estimate)

March 26, 2014

Last Update Submitted That Met QC Criteria

March 24, 2014

Last Verified

March 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HIGS

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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