Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers

Emory University

Status and phase: Completed; Phase 1

Conditions: Hemophilia A

Treatments: Drug: Desmopressin

Study type: Interventional

Funder types: Other

Identifiers

NCT02506023

IRB00080329

Details and patient eligibility

About

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

Full 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.

Enrollment: 2 patients

Sex: Female

Ages: 18 to 60 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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2 participants in 3 patient groups

Hemophilia A carriers with mild mutation

Active Comparator group

Description:

Hemophilia A carriers with a mild type mutation will be given a single intravenous dose of 0.3mcg/kg of DDAVP (Desmopressin).

Treatment:

Drug: Desmopressin

Hemophilia A Carriers with severe mutation

Active Comparator group

Description:

Hemophilia A carriers with a severe type mutation will be given a single intravenous dose of 0.3mcg/kg of DDAVP (Desmopressin).

Treatment:

Drug: Desmopressin

Control

Active Comparator group

Description:

Subjects with a mild qualitative platelet dysfunction will be given a single intravenous dose of 0.3mcg/kg of DDAVP (Desmopressin).

Treatment:

Drug: Desmopressin