Actively Recruiting
Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
Led by Insel Gruppe AG, University Hospital Bern · Updated on 2023-10-11
450
Participants Needed
7
Research Sites
1252 weeks
Total Duration
On this page
Sponsors
I
Insel Gruppe AG, University Hospital Bern
Lead Sponsor
S
Swiss National Science Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Severe ADAMTS13 deficiency (≤ 10% activity) with no ADAMTS13 inhibitor on two or more occasions at least one month apart
- Being a family member of a confirmed or suspected patient
- Molecular analysis showing one or more mutations in the ADAMTS13 gene and/or positive infusion trial with recovery of ADAMTS13 activity after fresh frozen plasma infusion
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 7 locations
1
University of Oklahoma Health Sciences Center, Department of Medicine, PO Box 26901
Oklahoma City, Oklahoma, United States, 73126-0901
Actively Recruiting
2
Medical University of Vienna, Department of Medicine 1, Div. Hematology and Hemostasis Waehringer Guertel 18-20
Vienna, Austria, A-1090
Actively Recruiting
3
Institute of Hematology and Blood Transfusion, Coagulation Laboratory, U nemocnice 1
Prague, Czechia, CZ-12820
Actively Recruiting
4
University Medical Center Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Martinistr 52
Hamburg, Germany, D-20246
Not Yet Recruiting
5
Nara Medical University, Department of Blood Transfusion Medicine, Shijyo-cho 840
Kashihara, Nara, Japan, 634-8522
Actively Recruiting
6
Trondheim University St Olavs Hospital, Department of Hematology, PO Box 3250 Sluppen
Trondheim, Norway, NO-7006
Actively Recruiting
7
University Clinic of Hematology and Central Hematology Laboratory, Bern University Hospital and the University of Bern, Inselspital
Bern, Switzerland, 3010
Actively Recruiting
Research Team
J
Johanna A Kremer Hovinga, MD
CONTACT
M
Marissa Schraner, Ph.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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