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 20-year-old man comes to the emergency due to bleeding after a tooth extraction.  The bleeding has persisted for approximately 30 minutes despite constant direct pressure.  He is a known case of Hemophilia type A treated with FVIII. Blood pressure is 95/60 mm Hg and pulse is 105/min. His weight is 70 Kg. Family history is positive for Hemophilia type A in his maternal uncle. He also has a lipoma on his left arm which he plans to remove surgically. His FVIII activity is 40%.

Patient description (patient's own words): I got my tooth extracted and I could not stop bleeding for 30 min. I'm a 20 yo dude but I have Hemophilia type A treated with FVIII. My blood pressure was 95/60 and my pulse 105/min. I'm 70 kg. My uncle on my mom's side also has type A hemophilia. I also have a fatty swelling on my left arm and I was supposed to remove it. My FVIII activity was 40%.

Does the patient match the trial criteria? Contradiction