Italian Study for Congenital Platelet Disorders (SIPaP)

Multicenter Observational Ambispective Study for Congenital Platelet Disorders

Inherited platelet disorders (IPD) are a heterogeneous group of rare bleeding diseases associated with a reduction of platelet number and/or function and with a bleeding tendency ranging from mild to severe. The frequency of inherited thrombocytopenias has been estimated to be 2.7/100,000 while the prevalence of inherited platelet function disorders is unknown, partly because they are frequently overlooked due to their difficult diagnosis.

Study Overview

• Status: Active, not recruiting
• Conditions: Platelet Disorder

Detailed Description

This a no-profit national multicenter ambispectic (retrospective and prospective) observational study.

After collection of informed consent form each patient, each center will enroll the patient and will collect general, laboratory and clinical data on an electronic CRF on a REDCAP platform. Each patient will receive a unique identification number. All clinical events will be reported in the data base.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

Study Locations

• Italy
  • Roma, Italy, 00168
    • Fondazione Policlinico Universitario A.Gemelli IRCCS
  • Rome, Italy, 00168
    • Fondazione Policlinico Universitario A.Gemelli IRCCS, Roma, Roma 00168

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All patients with established diagnosis of inherited number or function platelet disorder (IPN and IPD, respectively), on the basis of internationally established clinical, laboratory and genetic criteria will be enrolled.

Description

Inclusion Criteria:

• All patients with established diagnosis of inherited number or function platelet disorder (IPN and IPD, respectively), on the basis of internationally established clinical, laboratory and genetic criteria will be enrolled.
• For patients <18 ys, consensus will be signed by parents or legal responsible

Exclusion Criteria:

• No written consent
• Undocumented or uncertain diagnosis

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
All patients with established diagnosis will be enrolled.; All patients with established diagnosis of inherited number or function platelet disorder (IPN and IPD, respectively), on the basis of internationally established clinical, laboratory and genetic criteria will be enrolled.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
congenital platelet diseases	The main objectives of the study are to collect information on the diagnosis and management of these rare disorders and to create clinical and scientific collaborations between participating centres, and the aim of this project is to create for the first time an ambiseptic multicentre database on clinical and laboratory data on patients with congenital platelet disorders and to observe the prevalence of different congenital platelet disorders	48 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
QoL	description of different symptoms and therapeutical options and evaluation of health-related quality of life through validated questionnaires that record the patient's self-assessment of health on a vertical visual analogue scale in which the endpoints are labelled 'best imaginable health' and 'worst imaginable health'	48 months

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Investigators: Principal Investigator: Erica De Candia, MD, Fondazione Policlinico A. Gemelli IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): October 15, 2024
• Primary Completion (Estimated): October 1, 2028
• Study Completion (Estimated): October 30, 2028

Study Registration Dates

• First Submitted: November 11, 2024
• First Submitted That Met QC Criteria: November 14, 2024
• First Posted (Actual): November 15, 2024

Study Record Updates

• Last Update Posted (Actual): November 15, 2024
• Last Update Submitted That Met QC Criteria: November 14, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Blood Platelet Disorders
• Other Study ID Numbers: 7003 (CTEP)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No