An observational study in Thrombotic Thrombocytopenic Purpura, Congenital Thrombotic Thrombocytopenic Purpura and Familial Thrombotic Thrombocytopenic Purpura, sponsored by Insel Gruppe AG, University Hospital Bern. Recruiting at 7 sites in 7 countries. Per ClinicalTrials.gov, last updated 2023-10-11.
Sponsored by Insel Gruppe AG, University Hospital Bern · Observational
Among 27 studies in Purpura, Thrombotic Thrombocytopenic with a site in United States — 2 open to participants now, 3 under way, 1 of them phase 3. Purpura, Thrombotic Thrombocytopenic · United States.
Among the 27 studies in Purpura, Thrombotic Thrombocytopenic with a site in United States, this one is the only one that started in 2006, is one of 6 observational ones, and was the 12th registered.
67 studies on the registry are indexed under Purpura, Thrombotic Thrombocytopenic; 18 are open to participants now.
This study's planned enrollment of 450 is above the median of 156 across 27 observational studies indexed under Purpura, Thrombotic Thrombocytopenic.
Browse Purpura, Thrombotic Thrombocytopenic studies →2 of the 27 studies in Purpura, Thrombotic Thrombocytopenic with a site in United States are open now, in 7 countries. Each count lists the studies.
Of the 16 Purpura, Thrombotic Thrombocytopenic studies recruiting now, 12 (75%) set no upper age limit and 1 (6%) stop at 75 or younger; 9 take children under 18; 1 take healthy volunteers.
This study: all sexes · no healthy volunteers.
The full table on the hub →27 studies; the count open now beside each. This study's row is marked.
First in 2005; this study’s year is marked. 1 started in 2006.
Median enrollment 26 across the 21 interventional studies, 24 across the 6 observational. Of the 22 that completed or were terminated, 13 (59%) have results posted.
16 of 27 have an industry lead sponsor. The 10 most frequent:
Insel Gruppe AG, University Hospital Bern is the lead sponsor of 741 studies on the registry; 180 are open to participants now.
Insel Gruppe AG, University Hospital Bern has 1 study filed under Purpura, Thrombotic Thrombocytopenic — fewer than ten, so there is no comparison to draw.
1 of the studies in Purpura, Thrombotic Thrombocytopenic with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT04683003Phase 3TakedaA Study of TAK-755 in Participants With Congenital Thrombotic Thrombocytopenic Purpura | 2027-03-16 |
Among the 27 studies in Purpura, Thrombotic Thrombocytopenic with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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.
Background
Thrombocytopenia and microangiopathic hemolytic anemia together with a severely deficient ADAMTS13 activity confirm the diagnosis of acute thrombotic thrombocytopenic purpura (TTP). Today two forms of classical TTP are distinguished. The acquired form is caused by circulating auto-antibodies, mainly Immunoglobulin G (IgG), inhibiting ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, 13) activity. In contrast, hereditary TTP, also known as Upshaw-Schulman syndrome (USS); #274150 Online Mendelian Inheritance in Man (OMIM), is the result of severe constitutional deficiency of ADAMTS13 due to compound heterozygous or homozygous mutations in the ADAMTS13 gene.
The clinical course of USS is variable with rather mild courses in some of the patients requiring plasma infusions only in special situations (i.e. pregnancy), while in others severe courses with important sequelae and even death in early childhood occur. The reasons for the variable clinical presentation and treatment requirements have not been elucidated. It seems likely, that additional, hitherto unidentified factors besides severe ADAMTS13 deficiency modify the clinical course.
At present, the clinical symptoms and laboratory values on which to base treatment regimens for hereditary TTP are poorly understood. Furthermore, increasing awareness of hereditary TTP results in rising numbers of patients in need of treatment and/or prophylaxis. However, currently very little is known on side effects of long standing plasma substitution. Alloimmunization with the formation of antibodies acting as inhibitors of treatment are well known in other congenital coagulation factor deficiencies (e.g. hemophilia A), but so far no case of treated hereditary TTP with subsequent antibody formation has been reported. It is the aim of the hereditary TTP Registry to provide information on the clinical course of the disease in as many patients as possible and therefore help to establish recommendations on the necessity, modalities, and risks of prophylactic plasma therapy in patients with hereditary TTP. Furthermore, it will help to gain detailed insight into triggers and risk factors of acute bouts of TTP.
Moreover, the hereditary TTP Registry will provide information for family members on their risk to develop TTP-like or TTP-related disorders.
Objective
Primary objective: Collection of as much information as possible on the clinical presentation, disease course, disease-modifying factors, and treatment modalities of patients suffering from hereditary thrombotic thrombocytopenic purpura (TTP).
Secondary objective: To document potential adversary effects of (long-term) plasma treatment in patients with hereditary thrombotic thrombocytopenic purpura (TTP).
Methods
The TTP Registry is designed to collect both retrospective and prospective clinical, molecular, and observational data on patients with confirmed or suspected hereditary TTP. Additionally, the Registry will collect data from family members of TTP patients enrolled in the Registry. The Registry will enroll as many confirmed or suspected hereditary TTP patients and their family members as possible; there is no cap on enrollment. The Registry enrollment and follow-up periods are open-ended. The endpoints for patients with confirmed or suspected hereditary TTP and family members are death or withdrawal of consent.
Patients with either confirmed or with suspected hereditary TTP and their family members are eligible for enrollment
Inclusion Criteria:
Patients with confirmed hereditary TTP due to congenital ADAMTS13 deficiency
Other: Observation
Family members of patients with confirmed hereditary TTP
Other: Observation
No interventions planned: treatment of patients at the discretion of the treating/responsible physician
Clinical presentation and disease course in hereditary TTP
Time frame: every year until death
Identification of disease-modifying factors, including genotype-phenotype correlation
Time frame: every year until death
Treatment requirements in hereditary TTP patients
Time frame: every year until death
Documentation of potential adversary effects of (long-term) plasma treatment
Time frame: every year until death
Mortality of hereditary TTP
Time frame: every year until death
Clinical course in family members
Time frame: every year until death
The record gives a start of Oct 2006, a primary completion of Oct 2030 and a completion of Oct 2030. It does not say whether these dates are actual or estimated.
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