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

Plain-language summary

This observational study examines the relationship between changes in the ADAMTS13 gene and disease features in patients with hereditary thrombotic thrombocytopenic purpura, also known as Upshaw-Schulman syndrome. It includes patients with severe ADAMTS13 deficiency who have one or more mutations found on gene analysis, along with their family members. It is being carried out as a study with no assigned phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Insel Gruppe AG, University Hospital Bern

Intervention

Observation

Start date

10/1/2006

Estimated completion

10/1/2030

Countries

United States, Austria, Czechia, Germany, Japan, Norway, Switzerland

Related genes

Locations

• Oklahoma City, United States
• Vienna, Austria
• Prague, Czechia
• Hamburg, Germany
• Kashihara, Japan
• Trondheim, Norway
• Bern, Switzerland

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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)