Glanzmann Thrombasthenia (GT) Human Research

Study ID
STU 072010-155

Cancer Related
No

Healthy Volunteers
No

Study Sites

Contact
Anna Winborn
214-456-8185
anna.winborn@childrens.com

Principal Investigator
Janna Journeycake

Summary

This will be a prospective study to evaluate suspected Glanzmann Thrombasthenia (GT). Children's Medical Center will submit a coded 20 ml blood sample and clinical data. a retrospective longitudinal review of data will be performed and will include age, weight, height, gender, medical history and medications, adverse effects, and bleeding frequency and incidence. a detailed family history will be submitted. These will be obtained from the existing patient records and family interviews and documented under the study iD number. additional family members may participate by signing consent, submitting a 20 ml blood sample and sharing family history information. Blood and plasma samples will be shipped to the Children's Research institute, Wisconsin Blood Center where the leukocyte Dna/Rna will be extracted (from whole blood) and sequence analysis will be performed. Platelets will also be isolated from whole blood for protein analysis by immunofluorescent flow cytometry and western immunoblot analysis of platelet protein lysates. Results will be sent to Dr. neunert who will share the research results with participants.

Participant Eligibility

Patients greater than 6 months of age who are currently followed and who have been clinically diagnosed with GT will be eligible for the study. GT patient family members greater than 6 months of age are also eligible for this study.