Brief Title
Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers
Official Title
Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers
Brief Summary
The purpose of this study is to determine how female hemophilia A carriers respond to a medication called DDAVP (Desmopressin).
Detailed Description
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.
Study Phase
Phase 1
Study Type
Interventional
Primary Outcome
Percentage of subjects that achieve and sustain >50% increase in Factor VIII antigen levels
Secondary Outcome
Change in the time-course response of Factor VIII antigen levels
Condition
Hemophilia A
Intervention
Desmopressin
Study Arms / Comparison Groups
Hemophilia A carriers with mild mutation
Description: Hemophilia A carriers with a mild type mutation will be given a single intravenous dose of 0.3mcg/kg of DDAVP (Desmopressin).
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Drug
Estimated Enrollment
2
Start Date
July 2015
Completion Date
June 15, 2018
Primary Completion Date
June 15, 2018
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
Gender
Female
Ages
18 Years - 60 Years
Accepts Healthy Volunteers
No
Contacts
Robert Sidonio, Jr., MD, ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT02506023
Organization ID
IRB00080329
Responsible Party
Principal Investigator
Study Sponsor
Emory University
Study Sponsor
Robert Sidonio, Jr., MD, Principal Investigator, Emory University
Verification Date
July 2018