Yükleniyor... / Loading...
This study examines new candidate genes and protein variants that may cause disease in cases of inherited thrombocytopenia (an inherited low platelet count). It enrolled people who had a low platelet count for at least 6 months, had a family member with thrombocytopenia, and carried a potentially disease-causing gene variant. It was a study without an assigned phase and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * platelet count \< 150.000/µl for at least 6 months * thrombocytopenia in at least one family member * weight \> 35 kg * no pathogenic variant (already reported or suspected) in genes causative for inherited CT * harboring a variant potentially pathogenic in a gene potentially implicated in the megakaryopoiesis or platelet production, this variant being harbored also by the affected family members, and not by the non-affected family members . Exclusion Criteria: * Pregnant woman * Subject with an anemia: Hb \< 8g/dl * Subject with a behavior disorder * Subject with a hemostasis disease added (Willebrand disease, hemophilia, ...) * Subject with another suspected cause of thrombopenia (drug, infection, ...) * Subject taking a drug interfering on the platelet production * Subject protected by a legal measure * Subject participating to another program research, leading to larger blood volume than authorized