We updated the design of this site on December 18, 2017. Learn more.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Hemophilia Inhibitor Genetics Study (HIGS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00166387
Recruitment Status : Completed
First Posted : September 14, 2005
Last Update Posted : March 26, 2014
Sponsor:
Information provided by (Responsible Party):

Study Description
Brief Summary:
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.

Condition or disease Intervention/treatment
Hemophilia A With Inhibitor Procedure: Blood draw

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 Design

Study Type : Observational
Actual Enrollment : 1137 participants
Observational Model: Family-Based
Official Title: Hemophilia Inhibitor Genetics Study (HIGS)
Study Start Date : April 2003
Primary Completion Date : December 2013
Study Completion Date : December 2013

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Hemophilia
U.S. FDA Resources

Groups and Cohorts

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 Name: N/A to this study.


Outcome Measures

Primary Outcome Measures :
  1. development of inhibitory antibodies to factor VIII [ Time Frame: upon development of inhibitor or following at least 100 exposure days to factor VIII ]

Biospecimen Retention:   Samples With DNA
Plasma, cells, DNA

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
People with hemophilia and their parents.
Criteria

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.
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00166387


Locations
Sweden
Malmo University Hospital
Malmo, Sweden, SE-205 02
Sponsors and Collaborators
Skane University Hospital
Investigators
Principal Investigator: Erik Berntorp, MD, PhD Skane University Hospital
More Information

Publications:
Responsible Party: Sharyne M. Donfield, Ph.D., Professor Erik Berntorp, Malmö University Hospital, Skane University Hospital
ClinicalTrials.gov Identifier: NCT00166387     History of Changes
Other Study ID Numbers: HIGS
First Posted: September 14, 2005    Key Record Dates
Last Update Posted: March 26, 2014
Last Verified: March 2014

Keywords provided by Sharyne M. Donfield, Ph.D., Skane University Hospital:
Hemophilia
Inhibitors

Additional relevant MeSH terms:
Hemophilia A
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Coagulation Protein Disorders
Hemorrhagic Disorders
Genetic Diseases, Inborn