Clinical trial: Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers (NCT02506023)

Eligibility criteria:
Inclusion Criteria:

        Inclusion criteria for hemophilia A carriers:

          -  Females 18-60 years of age at time of enrollment

          -  Genetically verified or obligate hemophilia A carrier (mother of 2 boys with
             hemophilia A, daughter of a father with hemophilia A or mother of a son and another
             male relative with hemophilia A)

          -  To stratify patients by carriage of mutation type 10 hemophilia carriers of mild
             mutations that are predicted to lead to reduced FVIII secretion, protein stability or
             thrombin cleavage site interference and 10 hemophilia carriers of severe mutations
             that lead to predicted negative cross reactive material will be selected. Predicted
             FVIII function of the mutation will be verified by EAHAD (European Association for
             Haemophilia and Allied Disorders) Coagulant Factor Variant Database at
             www.eahad-db.org)

          -  Weight >40kg to ensure volumes of blood to be drawn are within accepted safe range

        Inclusion criteria for non-hemophilia A carriers (Females with mild qualitative platelet
        dysfunction):

          -  Females 18-60 years of age at time of enrollment

          -  Whole blood or platelet rich plasma lumiaggregometry consistent with reduced
             aggregation to at least 1 agonist on at least one occasion (excluding evidence of
             Glanzmanns Thrombasthenia or Bernard Soulier Syndrome) or determined by primary
             hematologist as having a qualitative platelet disorder

          -  Age-matched by 10 years to carrier enrolled

          -  Weight >40kg to ensure volumes of blood to be drawn are within accepted safe range

        Exclusion Criteria:

          -  Personal history of concomitant bleeding or clotting disorder

          -  Cardiac condition that requires the daily use of Aspirin or Clopidogrel

          -  Inability to comply with fluid restriction protocol for 24 hours following
             Desmopressin (DDAVP)

          -  Personal history of a myocardial infarction, renal or hepatic insufficiency or
             epilepsy
Female
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 60 Years

Patient description (medical language): A 23-year-old female has prolonged oral bleeding immediately after a tooth extraction.  Despite several interventions, the bleeding persists for hours and stops only after desmopressin (DDAVP) administration.  The patient has heavy menstrual cycles each month.  She has no other medical problems and takes no medications.  Her mother and grandmother have also had excessive bleeding during menstrual period.  Review of systems is positive for mild bruising on his legs. Laboratory findings reveal a normal platelet count and an abnormal ristocetin cofactor assay, as well as CB <= 0.30 IU/mL and FVIII:C <= 0.40 IU/mL.

Patient description (patient's own words): I'm a 23 woman and I went to the ER because of non-stop bleeding after my tooth extraction. I tried to make the bleeding stop but it just kept going for hours and it finally stopped when I took some medication called DDAVP. I usually have heavy periods, just like my mom and grandma had. I don't have any other medical condition and I don't take any other medication. The doctor noticed the bruises on my legs. I had to do some lab tests. I had a normal platelet count but an abnormal ristocetin cofactor assay. I had low CB and FVIII:C levels.

Does the patient match the trial criteria? 1