NCT01257269 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
| NCT ID | NCT01257269 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Insel Gruppe AG, University Hospital Bern |
| Condition | Thrombotic Thrombocytopenic Purpura |
| Study Type | OBSERVATIONAL |
| Enrollment | 450 participants |
| Start Date | 2006-10 |
| Primary Completion | 2030-10 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 450 participants in total. It began in 2006-10 with a primary completion date of 2030-10.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) is a rare disorder characterized by thrombocytopenia as a result of platelet consumption, microangiopathic hemolytic anemia, occlusion of the microvasculature with von Willebrand factor-platelet-thrombic and ischemic end organ damage. The underlying patho-mechanism is a severe congenital ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, 13) deficiency which is the result of compound heterozygous or homozygous ADAMTS13 gene mutations. Although considered a monogenic disorder the clinical presentation in Upshaw-Schulman syndrome patients varies considerably without an apparent genotype-phenotype correlation. In 2006 we have initiated a registry for patients with Upshaw-Schulman syndrome and their family members to identify possible triggers of acute bouts of TTP, to document individual clinical courses and treatment requirements as well as possible side effects of long standing plasma substitution, e.g. alloantibody formation or viral infections.
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)
Contact & Investigator
Johanna A Kremer Hovinga, MD
STUDY CHAIR
University Clinic of Hematology and Central Hematology Laboratory, Bern University Hospital and the University of Bern, Inselspital
Frequently Asked Questions
Who can join the NCT01257269 clinical trial?
This trial is open to participants of all sexes, studying Thrombotic Thrombocytopenic Purpura. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01257269 currently recruiting?
Yes, NCT01257269 is actively recruiting participants. Contact the research team at johanna.kremer@insel.ch for enrollment information.
Where is the NCT01257269 trial being conducted?
This trial is being conducted at Oklahoma City, United States, Vienna, Austria, Prague, Czechia, Hamburg, Germany and 3 additional locations.
Who is sponsoring the NCT01257269 clinical trial?
NCT01257269 is sponsored by Insel Gruppe AG, University Hospital Bern. The principal investigator is Johanna A Kremer Hovinga, MD at University Clinic of Hematology and Central Hematology Laboratory, Bern University Hospital and the University of Bern, Inselspital. The trial plans to enroll 450 participants.