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

Conditions

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

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

• Observation — OTHER
  No interventions planned: treatment of patients at the discretion of the treating/responsible physician

Study Details

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.

Key Dates

Start date

Oct 31, 2006

Status verified

Oct 2023

Primary completion

Oct 31, 2030

Completion

Oct 31, 2030

Study Design

Enrollment

450 participants (estimated)

Arms

• Arm: 1
  Patients with confirmed hereditary TTP due to congenital ADAMTS13 deficiency
• Arm: 2
  Family members of patients with confirmed hereditary TTP

Primary Outcome Measure

Clinical presentation and disease course in hereditary TTP [ Time Frame: every year until death ]

Central Contacts

• Johanna A Kremer Hovinga, MD
  +41 31 632 02 65
  [email protected]
• Marissa Schraner, Ph.D.
  +41 31 632 56 90
  [email protected]

Locations (1)

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