RECRUITING

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

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Conditions

Thrombotic Thrombocytopenic PurpuraCongenital Thrombotic Thrombocytopenic PurpuraFamilial Thrombotic Thrombocytopenic PurpuraThrombotic Thrombocytopenic Purpura, CongenitalUpshaw-Schulman SyndromeADAMTS13Von Willebrand factorVon Willebrand factor cleaving proteaseThrombocytopeniaHemolytic anemia

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Thrombotic Thrombocytopenic Purpura Registry - A Prospective Observational Study for Patients Suffering From Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)

Quick Facts

Study Start:2006-10
Study Completion:2030-10
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01257269

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Severe ADAMTS13 deficiency ( ≤ 10% activity) and no ADAMTS 13 inhibitor on two or more occasions at least one month apart
  2. * Being a family member of a confirmed or suspected patient
  3. * 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)
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Johanna A Kremer Hovinga, MD
CONTACT
+41 31 632 02 65
johanna.kremer@insel.ch
Marissa Schraner, Ph.D.
CONTACT
+41 31 632 56 90
marissa.schraner@insel.ch

Principal 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
Bernhard Lämmle, M.D.
STUDY_CHAIR
University Medical Center, Center for Thrombosis and Hemostasis, Mainz, Germany
Yoshihiro Fujimura, M.D.
STUDY_CHAIR
Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan
Ingrid Hrachovinova, Ph.D.
STUDY_CHAIR
Institute of Hematology and Blood Transfusion, Coagulation Laboratory, Prague, Czech Republic
Petter Quist-Paulsen, M.D., Ph.D.
STUDY_CHAIR
Department of Hematology, St Olavs Hospital, 7006 Trondheim, Norway
Reinhard Schneppenheim, M.D., Ph.D.
STUDY_CHAIR
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
James N. George, MD
STUDY_CHAIR
University of Oklahoma Health Sciences Center, Department of Medicine, United States of America
Paul N Knoebl, MD
STUDY_CHAIR
Medical University of Vienna, Div. Hematology and Hemostasis, Austria

Study Locations (Sites)

University of Oklahoma Health Sciences Center, Department of Medicine, PO Box 26901
Oklahoma City, Oklahoma, 73126-0901
United States

Collaborators and Investigators

Sponsor: Insel Gruppe AG, University Hospital Bern

  • Johanna A Kremer Hovinga, MD, STUDY_CHAIR, University Clinic of Hematology and Central Hematology Laboratory, Bern University Hospital and the University of Bern, Inselspital
  • Bernhard Lämmle, M.D., STUDY_CHAIR, University Medical Center, Center for Thrombosis and Hemostasis, Mainz, Germany
  • Yoshihiro Fujimura, M.D., STUDY_CHAIR, Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan
  • Ingrid Hrachovinova, Ph.D., STUDY_CHAIR, Institute of Hematology and Blood Transfusion, Coagulation Laboratory, Prague, Czech Republic
  • Petter Quist-Paulsen, M.D., Ph.D., STUDY_CHAIR, Department of Hematology, St Olavs Hospital, 7006 Trondheim, Norway
  • Reinhard Schneppenheim, M.D., Ph.D., STUDY_CHAIR, Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • James N. George, MD, STUDY_CHAIR, University of Oklahoma Health Sciences Center, Department of Medicine, United States of America
  • Paul N Knoebl, MD, STUDY_CHAIR, Medical University of Vienna, Div. Hematology and Hemostasis, Austria

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2006-10
Study Completion Date2030-10

Study Record Updates

Study Start Date2006-10
Study Completion Date2030-10

Terms related to this study

Keywords Provided by Researchers

  • Thrombotic thrombocytopenic purpura
  • ADAMTS13
  • Von Willebrand factor
  • Von Willebrand factor cleaving protease
  • Thrombocytopenia
  • Hemolytic anemia

Additional Relevant MeSH Terms

  • Thrombotic Thrombocytopenic Purpura
  • Congenital Thrombotic Thrombocytopenic Purpura
  • Familial Thrombotic Thrombocytopenic Purpura
  • Thrombotic Thrombocytopenic Purpura, Congenital
  • Upshaw-Schulman Syndrome