Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers



Status:Completed
Conditions:Anemia, Hematology
Therapuetic Areas:Hematology
Healthy:No
Age Range:18 - 60
Updated:7/18/2018
Start Date:July 2015
End Date:June 15, 2018

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The purpose of this study is to determine how female hemophilia A carriers respond to a
medication called DDAVP (Desmopressin).

DDAVP (Desmopressin) is commonly used in the treatment of persons with bleeding disorders
such as hemophilia, von Willebrand disease, or qualitative platelet disorders to help them
clot better. The investigator wants to assess the increase in the subjects' clotting factors
in response to intravenous DDAVP (Desmopressin) and the levels of these internal clotting
factors will be measured at different times after the medication is given. The investigator
will compare the response to DDAVP (Desmopressin) in adult hemophilia A carriers to women
with a diagnosis of qualitative platelet dysfunction.

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
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201 Dowman Dr
Atlanta, Georgia 30303
(404) 727-6123
Emory University Emory University, recognized internationally for its outstanding liberal artscolleges, graduate and professional schools,...
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