Study of Individuals Affected With Hypoplasminogenemia (HISTORY)
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|ClinicalTrials.gov Identifier: NCT03797495|
Recruitment Status : Recruiting
First Posted : January 9, 2019
Last Update Posted : January 9, 2019
|Condition or disease|
The aims of this study are to:
- Define PLGD natural history in a large cohort of individuals with hypoplasminogenemia and their first-degree family members.
- Identify factors that correlate with disease expression and severity.
- Create a specimen biobank for further studies, available to other researchers.
The project will be international in scope with two collaborating centers that have created and will collect the subject data and samples. In North/Central/South America, the Indiana Hemophilia & Thrombosis Center (IHTC) will serve as the primary site while University of Milan will serve as the center for all other sites. The database is housed at the University of Milan, Italy.
Study population will include males and females affected with hyposplasminogenemia of any age. Both one-year retrospective and three-year prospective data will be collected on an international cohort of 100 affected individuals and their first degree family members (parents, siblings; total estimated study population ~500).
Study sample analysis, except for urine analyses, will be centralized and performed in Italy; the plasminogen antibody analysis will be batched for analysis, and the urine analyses will be performed locally. A sample biorepository will be created and ultimately housed in Italy. The study will provide testing for plasminogen activity and antigen, plasminogen genetic analysis, polymorphisms in genes that impact plasminogen expression and fibrinolysis, and global hemostatic assays. In addition, stored samples will be used for further testing and analyses to potentially include whole genome sequencing to further identify plasminogen genetic mutations as needed and to investigate other genetic modifiers of disease expression. An exploratory aim includes investigating the potential relationship with streptococcal strains and altered plasminogen products.
The study period will be 3 years for each enrolled subject. In-person visits will be conducted and samples for analysis will be collected at baseline and at end of study. Interval follow-up will be performed every 6 months by telephone. data will be collected at unscheduled visits that are performed for clinical need at the treating physician's discretion.
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Hypoplasminogenemia: An International RetroSpecTive and PrOspective CohoRt StudY (HISTORY)|
|Actual Study Start Date :||December 18, 2018|
|Estimated Primary Completion Date :||January 18, 2023|
|Estimated Study Completion Date :||January 18, 2024|
- Define the natural history of plasminogen deficiency [ Time Frame: 2 years ]
- Recruit 100 subjects with hypoplasminogenemia and their first-degree family members
- Collect up to 1 year retrospective and 3 year prospective data on symptoms, treatment and interventions
- Identify factors that contribute to or correlate with disease expression and severity [ Time Frame: 5 years ]
- Perform centralized plasminogen activity and antigen analyses
- Perform centralized genetic analysis to identify changes in the plasminogen gene
- Perform centralized analysis of polymorphisms that affect plasminogen activity levels and impact fibrinolysis
- Perform local urine analysis
- Collect samples to explore the interaction of altered plasminogen proteins with bacterial strains
- Create a specimen biobank [ Time Frame: 15 years ]Bank plasma, serum and DNA on consenting enrolled subjects
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03797495
|Contact: Amy D Shapiro, MDemail@example.com|
|Contact: Charles Nakar, MDfirstname.lastname@example.org|
|United States, Indiana|
|Indiana Hemophila @Thrombosis Center||Recruiting|
|Indianapolis, Indiana, United States, 46260|
|Contact: Neelam Thukral, CCRC 317-871-0000 ext 373 email@example.com|
|Contact: Charles Nakar, MD 317-871-0000 firstname.lastname@example.org|
|Principal Investigator: Amy D Shapiro, MD|
|Sub-Investigator: Charles Nakar, MD|
|Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,||Recruiting|
|Milano, Italy, 20122|
|Contact: Marzia Menegatti, PhD +39 - 02/50320727 email@example.com|
|Principal Investigator: Flora Peyvandi, MD,PhD|
|Principal Investigator:||Amy D Shapiro, MD||Indiana Hemophilia &Thrombosis Center, Inc.|
|Principal Investigator:||Flora Peyvandi, MD, PhD||Univeristy of Milan|