Unravelling the Role of Apoptosis in Platelets Biogenesis Through the Study of the Thrombocytopenia THC4

Plain-language summary

This study examines the role of apoptosis (programmed cell death) in platelet production, using THC4-type thrombocytopenia (a low platelet count) caused by a disease-causing variant in the CYCS gene. It can include patients with a molecularly confirmed THC4 diagnosis, and a blood sample is taken for laboratory assessment. This is a non-phase study and is active but not currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Active, not recruiting

Sponsor

Fondazione IRCCS Policlinico San Matteo di Pavia

Intervention

Blood draw for the laboratory assessment

Start date

6/18/2024

Estimated completion

6/30/2026

Countries

Italy

Related genes

Locations

• Pavia, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Molecular diagnosis of THC4, through the identification of a pathogenic variant of the CYCS gene
* Acquisition of written informed consent