Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)

Launched by INSEL GRUPPE AG, UNIVERSITY HOSPITAL BERN · Dec 8, 2010

Keywords

ClinConnect Summary

This clinical trial is investigating a rare genetic disorder called Upshaw-Schulman syndrome, which is a type of hereditary thrombotic thrombocytopenic purpura (TTP). This condition causes low platelet counts and can lead to serious problems in the blood vessels and organs. The trial aims to understand why patients with this syndrome have different symptoms even though they all have the same genetic defect. Researchers have started a registry to track patients and their family members, looking for triggers that can cause sudden episodes of the condition and to monitor how they respond to treatments over time.

To participate in this study, you may be eligible if you have a severe deficiency of a specific protein (ADAMTS13) that is essential for blood clotting, or if you are a family member of someone with this condition. The study is open to individuals of all ages and genders. Participants can expect to share their medical history and may undergo genetic testing. The information gathered will help researchers learn more about the disease and improve care for those affected. It's important to know that the study is currently recruiting participants and aims to enhance understanding of this complex disorder.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Severe ADAMTS13 deficiency ( ≤ 10% activity) and no ADAMTS 13 inhibitor on two or more occasions at least one month apart
• • Being a family member of a confirmed or suspected patient
• • Molecular analysis of ADAMTS13 gene with one or more mutations and/or positive infusion trial (full recovered ADAMTS13 activity after infused fresh frozen plasma (FFP) with a plasma half-life of 2-4 days)