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

Overview

About this study

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

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

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

Note: Other protocol defined Inclusion/Exclusion criteria may apply.

Eligibility last updated 5/2/23. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Meera Sridharan, M.D., Ph.D.

Contact us for the latest status

Contact information:

Rebecca Trogstad C.O.A.

(507) 266-1944

Trogstad.Rebecca@mayo.edu

More information

Publications

  • A devastating complication of hemophilia A, the congenital deficiency of coagulation factor VIII (FVIII), therapy is the development of inhibitory antibodies (inhibitors) to infused FVIII concentrate affecting up to 30% of people with the most severe form of the disease. Although the number of patients affected by hemophilia A with inhibitors is small, the physical, emotional, financial, and public health impact is overwhelming to the patient, family, and medical system. To best serve this patient population, as well as enhance knowledge around this complication, a robust data and specimen collection strategy must be designed. Read More on PubMed
  • Individual pharmacokinetic assessment is a critical component of tailored prophylaxis for hemophilia patients. Population pharmacokinetics allows using individual sparse data, thus simplifying individual pharmacokinetic studies. Implementing population pharmacokinetics capacity for the hemophilia community is beyond individual reach and requires a system effort. Read More on PubMed
  • Clinical trials test the efficacy of a treatment in a select patient population. We examined whether cancer clinical trial patients were similar to nontrial, "real-world" patients with respect to presenting characteristics and survival. Read More on PubMed
  • The conventional view that participants in randomised controlled trials sacrifice themselves for the good of future patients is challenged by increasing evidence to suggest that individual patients benefit from participation in trials. Read More on PubMed
  • To assess whether there is evidence that randomized controlled trials are systematically beneficial, or harmful, for patients. In other words, is there a "trial effect"? If so, to examine whether the evidence sheds light on the likely sources of the difference in outcomes. Read More on PubMed
  • Pilot study to characterize treatment differences between patients treated in clinical trials and those treated in a clinical setting. Previous studies have shown higher survival rates for participants in trials of cancer therapy. This difference is observed even after rates are adjusted for important covariates such as age and stage of disease. Read More on PubMed
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CLS-20568956

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