ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders

April 17, 2024 updated by: American Thrombosis and Hemostasis Network

ATHN Transcends: A Natural History Cohort Study of the Safety, Effectiveness, and Practice of Treatment in People With Non-Neoplastic Hematologic Disorders

In parallel with the growth of American Thrombosis and Hemostasis Network's (ATHN) clinical studies, the number of new therapies for all congenital and acquired hematologic conditions, not just those for bleeding and clotting disorders, is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have yet to demonstrate long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well-controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.(1,2,3,4) In 2019 alone, the United States Food and Drug Administration (FDA) has issued approvals for twenty-four new therapies for congenital and acquired hematologic conditions.(5) In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.(6) With this increase in potential new therapies on the horizon, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data.

ATHN Transcends is a cohort study to determine the safety, effectiveness, and practice of therapies used in the treatment of participants with congenital or acquired non-neoplastic blood disorders and connective tissue disorders with bleeding tendency. The study consists of 7 cohorts with additional study "arms" and "modules" branching off from the cohorts.

The overarching objective of this longitudinal, observational study is to characterize the safety, effectiveness and practice of treatments for all people with congenital and acquired hematologic disorders in the US.

As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.(7)

Study Overview

Status

Recruiting

Conditions

Detailed Description

This is a longitudinal, natural history observational cohort study being conducted at approximately 150 ATHN-affiliated sites. Participants will be followed for a minimum of 15 years. Harmonized data elements will be collected at the time of enrollment, quarterly, annually, and ad hoc. Base data will be collected for all participants. Specific data will be collected for participants enrolled in cohort-specific Arms and Modules.

Each participant will be assigned to a single cohort: Hemophilia, Von Willebrand Disease, Congenital Platelet Disorders, Rare Disorders, Bleeding Not Otherwise Specified (NOS), Thrombosis/Thrombophilia, or Non-Neoplastic Hematologic Conditions.

Study Arms and study Modules may be developed to provision disease and/or disease specific insights related to stakeholders, including but not limited to pharmaceutical companies, ATHN, and Hemophilia Treatment Centers (HTCs). Arms may branch off into product-specific data collection via Modules to be collected during the study, in conjunction with planned study assessments.

ATHN Transcends Principal Investigators

Tammuella Chrisentery-Singleton, MD Ochsner Clinic Foundation American Thrombosis and Hemostasis Network

Michael Recht, MD, PhD, MBA Yale University School of Medicine National Bleeding Disorders Foundation

PUPs Arm:

Co-Principal Investigators:

Shannon Carpenter, MD, MS University of Missouri Kansas City School of Medicine Children's Mercy Hospital

Julie Jaffray, MD University of California San Diego Rady Children's Hospital San Diego

ALTUVIIO Module:

Co-Principal Investigators Shannon Carpenter, MD, MS University of Missouri Kansas City School of Medicine Children's Mercy Hospital

Co-Principal Investigator Julie Jaffray, MD University of California San Diego Rady Children's Hospital San Diego

INHIBIT Module:

Co-Principal Investigators:

Nicoletta Machin DO, MS Assistant Professor, Division of Hematology/Oncology Hemophilia Center of Western Pennsylvania University of Pittsburgh Medical Center

Hemophilia Natural History Arm:

Co-Principal Investigators:

Tyler Buckner, MD, MSc Hemophilia and Thrombosis Center University of Colorado Anschutz Medical Campus

Michael Recht, MD, PhD, MBA Yale University School of Medicine National Bleeding Disorders Foundation

Rebinyn Module

Co-Principal Investigators:

Lauren Amos, MD Children's Mercy Hospital, Kansas City

Guy Young, MD University of Southern California Children's Hospital Los Angeles

Hemophilia Gene Therapy Outcomes Arm:

Co-Principal Investigators:

Janice M. Staber, MD Iowa Hemophilia and Thrombosis Center University of Iowa Stead Family Children's Hospital

Ulrike M. Reiss, MD Hemophilia Treatment Center St. Jude's Children's Research Hospital

Severe VWD Natural History Arm:

Co-Principal Investigators:

Robert F. Sidonio, Jr., MD, MSc Aflac Cancer and Blood Disorders Center, Hemophilia of Georgia Center for Bleeding and Clotting Disorders

Angela C. Weyand, MD C.S. Mott Children's Hospital, University of Michigan Medical School, Ann Arbor

Congenital Platelet Disorders Natural History Arm:

Principal Investigator Sanjay Ahuja, MD Rainbow Babies & Children's Hospital, Case Western Reserve University

Glanzmann Thrombasthenia Module:

Co-Principal Investigators:

Divya Citla-Sridhar, MD University of Arkansas for Medical Sciences Arkansas Children's Hospital

Meera Chitlur, MD Children's Hospital of Michigan

Hemophilia Cohort

This cohort includes three Arms and five Modules:

Previously Untreated Patients (PUPs) Arm This is a pediatric focused Arm of PUPs with hemophilia A or B.

ALTUVIIIO® Module The purpose is to investigate the safety and effectiveness of ALTUVIIIO® in PUPs with hemophilia A.

INHIBIT Module This is an observational study assessing inhibitor formation in children with severe hemophilia A.

Hemophilia Natural History Arm This Arm is investigating the safety, effectiveness, and practice of treatment for people with hemophilia.

Hemlibra® Module All participants treated with Hemlibra® are eligible to participate.

Rebinyn® Module The Rebinyn® Module is a prospective study in hemophilia B participants without inhibitors.

Hemophilia Gene Therapy Outcomes Arm This Arm is investigating the safety and effectiveness of gene therapy in people with hemophilia.

HEMGENIX® Module This is an observational study to characterize the effectiveness and safety of HEMGENIX® in participants with hemophilia B.

Congenital Platelet Disorders (CPD) Natural History Arm:

The CPD Arm is investigating the safety and efficacy of hemostatic therapies in the prevention or treatment of bleeding events in adult and pediatric participants with inherited congenital platelet disorders.

Glanzmann Thrombasthenia (GT) Module:

This Module is a study of bleeding symptoms, treatments, and treatment outcomes in patients with Glanzmann thrombasthenia.

Von Willebrand Disease Cohort No arms or modules open at this time.

Rare Disorders Cohort No arms or modules open at this time.

Bleeding NOS No arms or modules open at this time.

Thrombosis/Thrombophilia No arms or modules open at this time.

Non-Neoplastic Hematologic Conditions No arms or modules open at this time.

Study Type

Observational

Enrollment (Estimated)

3000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Carol Fedor, ND, RN, CCRC
  • Phone Number: 122 800-360-2846
  • Email: cfedor@athn.org

Study Contact Backup

Study Locations

  • United States
    • Arizona
      • Phoenix, Arizona, United States, 85016
        • Recruiting
        • Arizona Hemophilia and Thrombosis Treatment Center at Phoenix Children's Hospital
        • Contact:
        • Principal Investigator:
          • Shanna White, MD
    • Arkansas
      • Little Rock, Arkansas, United States, 72202
        • Recruiting
        • Arkansas Center for Bleeding Disorders
        • Contact:
        • Principal Investigator:
          • Shelley Crary, MD
    • California
      • Los Angeles, California, United States, 90007
        • Recruiting
        • Orthopaedic Institute for Children HTC
        • Principal Investigator:
          • Doris Quon, MD
        • Contact:
      • Sacramento, California, United States, 95817
        • Recruiting
        • University of California at Davis Hemophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Kim Schafer, RN, MSN, FNP
      • San Bernardino, California, United States, 92408
        • Recruiting
        • Loma Linda Hemoglobinopathy and Inherited Bleeding Disorder Program
        • Contact:
          • Rosa Rivas
          • Phone Number: 909-651-1910
        • Principal Investigator:
          • Akshat Jain, MD
      • San Diego, California, United States, 92123
        • Recruiting
        • Rady Children's Hospital San Diego
        • Contact:
        • Principal Investigator:
          • Julie Jaffray, MD
      • San Diego, California, United States, 92121
        • Recruiting
        • Hemophilia & Thrombosis Treatment Center at UC San Diego Health
        • Contact:
        • Principal Investigator:
          • Annette Von Drygalski, MD
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Recruiting
        • University of Colorado Denver Hemophilia and Thrombosis Center
        • Contact:
        • Principal Investigator:
          • Tyler Buckner, MD
    • Connecticut
      • New Haven, Connecticut, United States, 06520
        • Recruiting
        • Yale Hemophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Stephanie Prozora, MD
    • District of Columbia
      • Washington, District of Columbia, United States, 20007
        • Recruiting
        • Georgetown University
        • Contact:
        • Principal Investigator:
          • Craig Kessler, MD
      • Washington, District of Columbia, United States, 20010
        • Recruiting
        • Children's National Hemophilia Center
        • Contact:
        • Principal Investigator:
          • Michael Guerrera, MD
    • Florida
      • Gainesville, Florida, United States, 32610
        • Recruiting
        • University of Florida Hemophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Tung Wynn, MD
      • Orlando, Florida, United States, 32806
        • Not yet recruiting
        • Arnold Palmer Hospital for Children - The Haley Center for Children's Cancer and Blood Disorders
        • Principal Investigator:
          • Shveta Gupta, MD
        • Contact:
      • Saint Petersburg, Florida, United States, 33701
        • Not yet recruiting
        • Johns Hopkins All Children's Hospital
        • Contact:
        • Principal Investigator:
          • Irmel Ayala, MD
      • Tampa, Florida, United States, 33607
        • Recruiting
        • St. Joseph's Hospital Center for Bleeding & Clotting Disorders
        • Contact:
        • Principal Investigator:
          • Erin Cockrell, MD
    • Georgia
      • Atlanta, Georgia, United States, 30308
        • Recruiting
        • Comprehensive Bleeding Disorders Center at Emory University and Children's Healthcare of Atlanta
        • Contact:
        • Principal Investigator:
          • Christine Kempton, MD
      • Atlanta, Georgia, United States, 30322
        • Recruiting
        • Emory/Children's Health Care of Atlanta
        • Contact:
        • Principal Investigator:
          • Robert Sidonio, Jr, MD
      • Savannah, Georgia, United States, 31403
        • Recruiting
        • Willett Children's Hemophilia Treatment Center at Memorial Health
        • Contact:
        • Principal Investigator:
          • Ashley Eason, MD
    • Illinois
      • Chicago, Illinois, United States, 60612
        • Recruiting
        • Rush University Medical Center
        • Principal Investigator:
          • Mindy Simpson, MD
        • Contact:
      • Peoria, Illinois, United States, 61664
        • Recruiting
        • Bleeding and Clotting Disorders Institute
        • Principal Investigator:
          • Jonathan Roberts, MD
        • Contact:
    • Indiana
      • Indianapolis, Indiana, United States, 46260
        • Recruiting
        • Indiana Hemophilia and Thrombosis Center
        • Principal Investigator:
          • Amy Shapiro, MD
        • Contact:
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • Recruiting
        • Iowa Hemophilia and Thrombosis Center
        • Principal Investigator:
          • Janice Staber, MD
        • Contact:
    • Louisiana
      • New Orleans, Louisiana, United States, 70112
        • Recruiting
        • Louisiana Center for Bleeding and Clotting Disorders, Tulane University
        • Contact:
        • Principal Investigator:
          • Maissaa Janbain, MD
      • Slidell, Louisiana, United States, 70461
        • Recruiting
        • Louisiana Center for Advanced Medicine
        • Principal Investigator:
          • Sharon Pennington, MD
        • Contact:
    • Maine
      • Scarborough, Maine, United States, 04074
        • Recruiting
        • Maine Hemophilia and Thrombosis Center
        • Principal Investigator:
          • Eric Larsen, MD
        • Contact:
    • Maryland
      • Baltimore, Maryland, United States, 21287
        • Recruiting
        • Johns Hopkins University Hemophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Jennifer Keates-Baleeiro, MD
    • Massachusetts
      • Boston, Massachusetts, United States, 02114
        • Not yet recruiting
        • Massachusetts General Hospital Comprehensive Hemophilia and Thrombosis Treatment Center
        • Principal Investigator:
          • Eric Grabowski, MD
        • Contact:
    • Michigan
      • Detroit, Michigan, United States, 48201
        • Recruiting
        • Central Michigan Children's Hospital of Michigan
        • Principal Investigator:
          • Madhvi Rajpurkar, MD
        • Contact:
      • Detroit, Michigan, United States, 48202
        • Recruiting
        • Henry Ford Health System Bleeding and Thrombosis Treatment Center
        • Principal Investigator:
          • Philip Kuriakose, MD
        • Contact:
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Recruiting
        • Mayo Comprehensive Hemophilia Center
        • Contact:
        • Principal Investigator:
          • Meera Sridharah, MD
    • Mississippi
      • Madison, Mississippi, United States, 39110
        • Recruiting
        • Mississippi Center for Advanced Medicine
        • Principal Investigator:
          • Spencer Sullivan, MD
        • Contact:
    • Missouri
      • Kansas City, Missouri, United States, 64108
        • Recruiting
        • Children's Mercy Hospital - Kansas City
        • Contact:
        • Principal Investigator:
          • Shannon Carpenter, MD
      • Saint Louis, Missouri, United States, 63104
        • Recruiting
        • The John Bouhasin Center for Children with Bleeding Disorders
        • Principal Investigator:
          • John Puetz, MD
        • Contact:
    • Nevada
      • Las Vegas, Nevada, United States, 89135
        • Recruiting
        • Cure 4 the Kids Foundation
        • Contact:
        • Principal Investigator:
          • Aimee Foord, MD
      • Reno, Nevada, United States, 89509
        • Recruiting
        • Hemostasis and Thrombosis Center of Nevada
        • Contact:
        • Principal Investigator:
          • Daisy Cortes, MD
    • New Jersey
      • Newark, New Jersey, United States, 07122
        • Recruiting
        • Newark Beth Israel Medical Center - Hemophilia Center
        • Contact:
        • Principal Investigator:
          • Alice Cohen, MD
    • New York
      • Bronx, New York, United States, 10461
        • Recruiting
        • Montefiore Medical Center
        • Principal Investigator:
          • Henny Billett, MD
        • Contact:
      • Buffalo, New York, United States, 14202
        • Recruiting
        • Western New York BloodCare
        • Contact:
        • Principal Investigator:
          • Beverly Schaefer, MD
      • Hyde Park, New York, United States, 11040
        • Recruiting
        • Northwell Health Hemostasis and Thrombosis Center at Long Island Jewish and Cohen Children's Medical Center
        • Principal Investigator:
          • Suchitra Acharya, MD
        • Contact:
      • New York, New York, United States, 10065
        • Recruiting
        • Weill Cornell Medical College - New York Presbyterian Hospital
        • Principal Investigator:
          • Catherine McGuinn, MD
        • Contact:
      • Rochester, New York, United States, 14626
        • Recruiting
        • American Thrombosis and Hemostasis Network
        • Principal Investigator:
          • Tammuella Chrisentery-Singleton, MD
        • Contact:
        • Contact:
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27517
        • Recruiting
        • Comprehensive Hemophilia Treatment Center, University of North Carolina at Chapel Hill
        • Principal Investigator:
          • Nigel Key, MD
        • Contact:
      • Charlotte, North Carolina, United States, 28204
        • Recruiting
        • St. Jude Affiliate Clinic at Novant Health Hemby Children's Hospital
        • Contact:
        • Principal Investigator:
          • Jenny McDaniel, MD
      • Greenville, North Carolina, United States, 27834
        • Recruiting
        • East Carolina University Hemophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Beng Fuh, MD
      • Winston-Salem, North Carolina, United States, 27157
        • Recruiting
        • Wake Forest University Health Sciences
        • Contact:
        • Principal Investigator:
          • Amanda Blair, MD
    • Ohio
      • Akron, Ohio, United States, 44308
        • Recruiting
        • Akron Children's Hospital - Showers Center for Cancer & Blood Disorders
        • Contact:
        • Principal Investigator:
          • Nicole Kendel, MD
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital Medical Center, Hemophilia & Thrombosis Center
        • Contact:
        • Principal Investigator:
          • Cristina Tarango, MD
      • Cincinnati, Ohio, United States, 45267
        • Recruiting
        • University of Cincinnati Medical Center Hemophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Kristine Karkoska, MD
      • Cleveland, Ohio, United States, 44106
        • Recruiting
        • University Hospitals Health System Cleveland
        • Principal Investigator:
          • Sanjay Ahuja, MD
        • Contact:
      • Columbus, Ohio, United States, 43205
        • Recruiting
        • Nationwide Children's Hospital Columbus
        • Principal Investigator:
          • Amy Dunn, MD
        • Contact:
      • Dayton, Ohio, United States, 45404
        • Recruiting
        • Dayton Children's Hemostasis and Thrombosis Center
        • Contact:
        • Principal Investigator:
          • Jordan Wright, MD
      • Toledo, Ohio, United States, 43606
        • Recruiting
        • Northwest Ohio Hemophilia Treatment Center at the Toledo Hospital
        • Contact:
        • Principal Investigator:
          • Dagmar Stein, MD
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Children's Hospital of Philadelphia
        • Contact:
        • Principal Investigator:
          • Leslie Raffini, MD
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • Penn Comprehensive Hemophilia and Thrombophilia Program/Hospital of the University of Pennsylvania
        • Contact:
        • Principal Investigator:
          • Adam Cuker, MD
      • Pittsburgh, Pennsylvania, United States, 15213
        • Recruiting
        • Hemophilia Center of Western Pennsylvania
        • Contact:
        • Principal Investigator:
          • Nicoletta Machin, MD
    • Rhode Island
      • Providence, Rhode Island, United States, 02903
        • Recruiting
        • Rhode Island Hospital Hemostasis and Thrombosis Center
        • Contact:
        • Principal Investigator:
          • Salley Pels, MD
    • Tennessee
      • Memphis, Tennessee, United States, 38105
        • Recruiting
        • St. Jude Children's Research Hospital
        • Contact:
        • Principal Investigator:
          • Ulrike Reiss, MD
      • Nashville, Tennessee, United States, 37212
        • Recruiting
        • Vanderbilt University Medical Center
        • Principal Investigator:
          • Allison Wheeler, MD
        • Contact:
    • Texas
      • Dallas, Texas, United States, 75235
        • Recruiting
        • North Texas Hemophilia and Thrombosis Program - Pediatric Program / Center for Cancer & Blood Disorders
        • Contact:
        • Principal Investigator:
          • Ayeshia Zia, MD
      • Dallas, Texas, United States, 75390
        • Recruiting
        • North Texas Comprehensive Hemophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Yu-Min Shen, MD
      • Fort Worth, Texas, United States, 76104
      • Houston, Texas, United States, 77030
        • Recruiting
        • Gulf States Hemophilia and Thrombophilia Center
        • Contact:
        • Principal Investigator:
          • Miguel A. Escobar, MD
      • Houston, Texas, United States, 77030
        • Recruiting
        • Texas Children's Hemophilia & Thrombosis Center/Baylor College of Medicine
        • Principal Investigator:
          • Clay Cohen, MD
        • Contact:
      • San Antonio, Texas, United States, 78229
        • Recruiting
        • South Texas Comprehensive Hemophilia and Thrombophilia Treatment Center
        • Contact:
        • Principal Investigator:
          • Deanna Maida, MD
    • Washington
      • Seattle, Washington, United States, 98101
        • Recruiting
        • Washington Center for Bleeding Disorders
        • Contact:
        • Principal Investigator:
          • Rebecca Kruse-Jarres, MD
    • Wisconsin
      • Green Bay, Wisconsin, United States, 54311
        • Recruiting
        • Hemophilia Outreach Center Green Bay
        • Contact:
        • Principal Investigator:
          • Kenneth Friedman, MD
      • Milwaukee, Wisconsin, United States, 53226
        • Recruiting
        • Comprehensive Center for Bleeding Disorders
        • Principal Investigator:
          • Lynn Malec, MD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

This is a real-world study in which participants with congenital or acquired blood disorders will be enrolled.

Description

Participants who meet the following inclusion criteria and none of the exclusion criteria are eligible for enrollment in the base study:

Inclusion Criteria:

  1. Any age
  2. Having a congenital or acquired non-neoplastic hematologic disorder; or
  3. Having a bleeding phenotype as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score with an unknown diagnosis; or
  4. Connective tissue disorder with bleeding tendency as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score.

Exclusion Criteria:

  1. Does not qualify for inclusion in a cohort
  2. Unable to give informed consent or assent
  3. Unwilling to perform study procedures

Cohort Participant Selection

Each participant is to be enrolled in the cohort for which they qualify as defined below.

Hemophilia Cohort

Inclusion Criteria:

Participants who meet any of the following inclusion criteria are eligible for enrollment into this cohort:

  1. Factor VIII or factor IX activity < 50%, without another explanation for low clotting factor other than congenital hemophilia or being a known carrier for congenital hemophilia; OR
  2. Being a known carrier for congenital hemophilia with a factor VIII or factor IX activity greater than or equal to 50% with or without a bleeding phenotype as indicated by an age-adjusted abnormal ISTH Bleeding Assessment Tool score; OR
  3. Known congenital hemophilia that have a factor level >50% after receiving vector; OR
  4. Acquired hemophilia

Exclusion Criteria:

None

Von Willebrand Disease Cohort

Inclusion Criteria:

Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:

  1. Meeting the definition of VWD or low VWF per most recent international guidelines

Exclusion Criteria:

None

Congenital Platelet Disorders Cohort

Inclusion Criteria:

Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:

  1. Abnormalities of platelet function

    1. Glanzmann thrombasthenia (GPIIb or GPIIIa)
    2. Bernard-Soulier syndrome (GPIbalpha, GPIbbeta, or GPIX)
  2. Abnormalities of platelet granules
  3. Abnormalities of platelet signal transduction
  4. Abnormalities of platelet secretion
  5. Collagen Receptor Defect
  6. ADP Receptor Defect
  7. Thromboxane Receptor Defect
  8. Giant Platelet Disorder
  9. Abnormalities in platelet aggregation testing due to another or unknown cause (not drug related)

Exclusion Criteria:

Platelet disorders secondary to medications or other substances

Rare Disorders Cohort

Inclusion Criteria:

Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:

1. Have an established Rare Coagulation Disorder (RCD) diagnosis of one of the following:

  1. PAI-1 deficiency
  2. Factor I, II, V, VII, X, XI, XIII deficiencies
  3. Combined FV and FVIII deficiency
  4. Plasminogen deficiency
  5. Decreased tissue plasminogen activator
  6. Afibrinogenemia/hypofibrinogenemia/dysfibrinogenemia

Exclusion Criteria:

None

Bleeding NOS Cohort

Inclusion Criteria:

Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:

  1. Have a bleeding phenotype as indicated by an age-adjusted abnormal ISTH Bleeding Assessment Tool score with an unknown diagnosis; OR
  2. Connective tissue disorder with bleeding tendency as indicated by an age-adjusted abnormal ISTH Bleeding Assessment Tool score

Exclusion Criteria:

None

Thrombosis/Thrombophilia Cohort

Inclusion Criteria

Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:

  1. Have a prior history of arterial or venous thrombosis
  2. Patients with a known congenital or acquired thrombophilia with or without a thrombosis a. Common congenital thrombophilias:: i. Protein C deficiency ii. Protein S deficiency iii. Antithrombin deficiency iv. Factor V Leiden v. Prothrombin gene mutation b. Rare genetic factors i. Hyperhomocysteinemia c. Indeterminate genetic factors i. Elevated factor VIII ii. Elevated factor IX iii. Elevated factor XI iv. Elevated lipoprotein (a) d. Acquired thrombophilias i. Lupus anticoagulant ii. Anti-cardiolipin antibodies/Beta2 glycoprotein antibodies iii. Antiphospholipid syndrome

Exclusion Criteria

1. Acquired thrombophilia secondary to medications (birth control pills or hormone replacement therapy, overweight or obesity, smoking, cancer, pregnancy, surgery, injury, prolonged inactivity/bedrest, heart failure, inflammatory bowel disease, or kidney disease

Non-Neoplastic Hematologic Conditions Cohort

Inclusion Criteria

Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:

1. Having any congenital or acquired non-neoplastic hematologic disorder not included in any other cohort

Exclusion Criteria

None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Hemophilia

This cohort includes three Arms and five Modules:

Previously Untreated Patients (PUPs) Arm

ALTUVIIIO® Module INHIBIT Module

Hemophilia Natural History Arm

Hemlibra® Module Rebinyn® Module

Hemophilia Gene Therapy Outcomes Arm

HEMGENIX® Module
Congenital Platelet Disorders

This cohort includes one Arm and Module:

Congenital Platelet Disorders (CPD) Natural History Arm Glanzmann Thrombasthenia (GT) Module
Von Willebrand Disease
No arms or modules
Rare Disorders
No arms or modules
Bleeding NOS
No arms or modules
Thrombosis/Thrombophilia
No arms or modules
Non-Neoplastic Hematologic Conditions
No arms or modules

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To determine the safety of therapies used in the treatment of participants with congenital or acquired non-neoplastic blood disorders and connective tissue disorders with bleeding tendency.
Time Frame: 15 years

Safety will be measured by those events in the European Safety Surveillance (EUHASS).

  1. Allergic or other acute events
  2. Treatment-emergent side effects of therapy
  3. Transfusion transmitted infections
  4. Inhibitor development
  5. Thrombosis
  6. Cardiovascular events
  7. Malignancies
  8. Neurological events
  9. Death

In addition to the modified EUHASS endpoints, the following events will be collected as adverse events of special interest (AESI):

  1. The occurrence of thrombotic microangiopathies, injection site reactions and cases of potential drug-induced liver injury
  2. The development of anti-drug antibodies, to be measured and confirmed, if feasible
  3. Severe, unanticipated bleeding
  4. Hospitalizations
  5. Glomerulonephritis

Additional safety events of interest (TBD) may be collected. These may be chosen from drug development profiles based on investigational studies, package inserts, and emerging clinical and scientific observations.
15 years
To describe the safety and tolerability of efanesoctocog alfa in previously untreated patients (PUPs) with hemophilia A without a history of inhibitors.
Time Frame: 7 years
Safety and tolerability will be measured by Annualized Bleed Rate (ABR), number of doses to treat a bleed, doses during perioperative surgery, and clinical patient reported outcomes (PROs) in this population.
7 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To establish a platform to support study Arms and Modules for participants with bleeding, clotting, other non-neoplastic blood disorders, and connective tissue disorders with bleeding tendency.
Time Frame: 15 years
For each Arm, a brief set of data elements of interests will be developed and reported for study participants.
15 years
To describe medication dosing regimens in the above conditions.
Time Frame: 15 years

This objective will be evaluated by:

  1. Determining the number of participants who initiate and/or switch treatment with non-factor products and participants' reasons for initiating and/or switching treatment with non-factor products
  2. Determining the number of participants who do not initiate treatment with non-factor products
  3. Determining the number of participants who switch between different non-factor products and the participants' reasons for switching non-factor products
  4. Determining the number of participants who discontinue treatment with non-factor products and participants' reasons for discontinuing treatment with non-factor products
15 years
To describe real-world effectiveness of therapies by evaluating for Health care utilization
Time Frame: 15 years
Measured by number and type of visits and hospitalizations per year.
15 years
To grow and evolve a biorepository for current and future research through the collection of biospecimens from every person enrolled on this protocol.
Time Frame: 15 years
All participants will have the option of having specimens drawn (about 5mL each) at baseline to be stored in the ATHN Research Biorepository (ARB).
15 years
To describe bleeding events, changes in overall bleeding, and annualized bleeding rate (ABR) as measured by individual bleeding components.
Time Frame: 15 years
This objective will be calculated per ISTH Bleeding Assessment Tool (ISTH BAT), and if applicable, a Pictorial Bleeding Assessment Chart (PBAC), for applicable diagnoses.
15 years

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
To describe real-world effectiveness of therapies by evaluating for Goal attainment
Time Frame: 15 years
Measured by GOAL-Hem for those participants that opt into this measurement
15 years
To describe real-world effectiveness of therapies by evaluating for Patient Reported Outcomes (PROs)
Time Frame: 15 years
Measured by the Patient Reported Outcomes Measurement Information System (PROMIS) Profile 29/25/Parent Proxy
15 years
To describe real-world effectiveness of therapies by evaluating treatment adherence
Time Frame: 15 years
Measured by the Global Adherence Rating (GAR)
15 years
To describe real-world effectiveness of therapies by evaluating health utility
Time Frame: 15 years
Measured by the EQ-5D-5L
15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

American Thrombosis and Hemostasis Network

Collaborators

Sanofi
Pfizer
Genentech, Inc.
CSL Behring
Hemophilia of Georgia, Inc.
Hemab Therapeutics

Investigators

  • Principal Investigator: Michael Recht, MD, PhD, MBA, Yale University School of Medicine & National Bleeding Disorders Foundation
  • Principal Investigator: Tammuella Chrisentery-Singleton, MD, ATHN, Ochsner Clinic Foundation

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 30, 2020

Primary Completion (Estimated)

June 1, 2035

Study Completion (Estimated)

December 1, 2035

Study Registration Dates

First Submitted

May 11, 2020

First Submitted That Met QC Criteria

May 20, 2020

First Posted (Actual)

May 21, 2020

Study Record Updates

Last Update Posted (Actual)

April 18, 2024

Last Update Submitted That Met QC Criteria

April 17, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ATHN Transcends

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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