Inherited Thrombocytopenias: Discovering the "New" Forms That Affect Half of Patients and Developing an in Vitro Tool for Testing the Ability of New Drugs to Increase Platelet Production and Predicting the Response to Treatment in the Individual Patient
Inherited thrombocytopenias (ITs) are rare conditions characterized by low platelet count resulting in impaired hemostasis.
Recent advances revealed that several forms expose patients to the risk of developing additional and life-threatening disorders. Making a definite diagnosis is essential to identify patients' prognosis, personalize follow-up and treatment. Furthermore, Eltrombopag, an oral drug mimicking thrombopoietin (THPO), was able to increase the number of platelets in most of the few patients treated so far. Despite these advances, knowledge on ITs is still unsatisfactory, in that nearly half of patients have yet unknown forms. Moreover, the individual patient's response to Eltrombopag can't be predicted. This project wants to improve knowledge on ITs by two approaches: identification and characterization of new ITs; an in vitro bone marrow model not only for pre-clinical pharmacological studies of innovative drugs, but also for predicting individual response to treatment.
Studieoversigt
Status
Betingelser
Detaljeret beskrivelse
The major problems when dealing with Inherited thrombocytopenias (ITs) are:
- achieving a diagnosis of certainty;
- setting up a personalized and effective treatment.
a) Near 50% of subjects remain without a diagnosis because they don't fit the diagnostic criteria for any known IT and don't have mutations in the causative genes identified so far. Our project, aimed at identifying new ITs by whole exome sequencing(WES) of a large number of subjects with unknow forms, will fill this gap; b)We want to improve therapy for ITs, which is presently mainly based on platelet transfusion, by the identification of new drugs and the usage of an innovative tool to predict in vitro patients' response to different treatment, allowing us to personalize therapeutic approaches.
Undersøgelsestype
Tilmelding (Faktiske)
Kontakter og lokationer
Studiesteder
-
-
-
Pavia, Italien, 27100
- Medicina Generale 1, Fondazione IRCCS Policlinico San Matteo
-
-
Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
- Barn
- Voksen
- Ældre voksen
Tager imod sunde frivillige
Prøveudtagningsmetode
Studiebefolkning
Beskrivelse
Inclusion Criteria:
- Exclusion of any known IT after the application of a validated diagnostic algorithm based on clinical and laboratory criteria;
- Absence of mutations in genes known to be causative for IT;
- Acquisition of written informed consent.
Exclusion Criteria:
-
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Tidsramme |
|---|---|
|
Identification and assessment of the causative role of candidate genes for new ITs
Tidsramme: 3 years
|
3 years
|
Samarbejdspartnere og efterforskere
Datoer for undersøgelser
Studer store datoer
Studiestart (Faktiske)
Primær færdiggørelse (Faktiske)
Studieafslutning (Faktiske)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Faktiske)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Andre undersøgelses-id-numre
- P_52405_2019
Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter
Studerer et amerikansk FDA-reguleret lægemiddelprodukt
Studerer et amerikansk FDA-reguleret enhedsprodukt
Disse oplysninger blev hentet direkte fra webstedet clinicaltrials.gov uden ændringer. Hvis du har nogen anmodninger om at ændre, fjerne eller opdatere dine undersøgelsesoplysninger, bedes du kontakte register@clinicaltrials.gov. Så snart en ændring er implementeret på clinicaltrials.gov, vil denne også blive opdateret automatisk på vores hjemmeside .
Kliniske forsøg med Inherited Thrombocytopenias
-
Fondazione IRCCS Policlinico San Matteo di PaviaAktiv, ikke rekrutterendeAt afsløre rollen som apoptose i blodplader Biogenese gennem studiet af thrombocytopenia THC4 (THC4)Trombocytopeni, isoleret | Thrombocytopenia 4 | Cycs Mutation-Associated Thrombocytopenia THC4Italien
-
University of UtahAfsluttetDominantly Inherited Stargardt's Disease (STGD3)Forenede Stater