Research (continued) & Future Treatments

Glanzmann’s Thrombasthenia

Bone Marrow Transplant

Q: What are your thoughts on Bone Marrow Transplant for Glanzmann’s Thrombasthenia?

Meera Chitlur, MD

This is the only curative option for this disease. We have now transplanted 2 sibs with GT and it is truly life changing for the patient and the family! I don’t know the success rate as such because the number of reported transplants is still in the double digits and potentially <50. I would recommend it especially if there is a sibling donor.

Q: What do you see on the treatment horizon for ultra-rare factor and platelet disorders?

Meera Chitlur, MD

Gene therapy is the only curative option but may not be in the foreseeable future as this is a challenging arena. We are anticipating treatment options like Fitusiran™ which alter the pro-and anticoagulant balance to make more of a presence.

Dr. David Wilcox and his team have tirelessly researched platelets for the past three decades to improve treatment for inherited bleeding disorders. These efforts have led to significant advances in our current understanding of platelets, and of specific proteins and their role in addressing several genetic disorders. Additionally, Dr. Wilcox has been investigating the potential for utilizing Human Stem Cells (HSC) as a target for gene therapy to synthesize therapeutic proteins within megakaryocytes, to correct disorders utilizing unique properties of platelets. As recipient of numerous grants and awards, both public and private, these efforts have led to three platforms for megakaryocyte-specific gene therapy, addressing diseases including Glanzmann’s Thrombasthenia, and Hemophilia A, as well as several types of cancer.

In May of 2022, he spoke at the American Society of Gene and Cell Therapy annual conference in Washington DC regarding this research with the hope of advancing to the first in human clinical gene therapy trial.

What is it?

A Rare Coagulation Disorders Project leveraging the ATHNdataset to document the state of rare coagulation disorders in the United States

Principal Investigators:

Diane Nugent, MD

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Executive Officer, Board President/Founder, President/Medical Director

• Center for Comprehensive Care and Diagnosis of Inherited Blood Disorders

A T H N

Merican Hrombosis And Emostasis Etwork

Amy Shapiro, MD

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•

Chief Executive Officer, Co-Medical Director

Indiana Hemophilia & Thrombosis Center

ATHN sponsors research through partnerships with 135+ federally funded hemophilia treatment centers across the United States. ATHN 10’s goals are to:

• Enhance Rare Coagulation Disorders for phenotypic/genotypic data within the ATHNdataset

• Provide free genetic testing for those with Rare Coagulation Disorders and more

Requirements:

• Established diagnosis of a Rare Coagulation Disorder

• Currently receiving care at an ATHNaffiliated Hemophilia Treatment Center

• Must opt-in to the ATHNdataset

The initial stages of this project will collect data for those affected by the following Rare Coagulation Disorders:

• Bernard Soulier syndrome

• Glanzmann’s thrombasthenia

• Factor I (Afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia)

• FVIId (Factor 7 deficiency)

• FXIIId (Factor 13 deficiency)

Those that have participated in Dr. Nugent’s studies via the 2017-2019 F7 Retreats or the 2019 Glanzmann’s Thrombasthenia Symposia offered by Comprehensive Health Education Services will NOT automatically be enrolled in the ATHN 10 study. You MUST contact your HTC to be included in ATHN 10.

For a complete overview on ATHN 10: https://athn.org/what-we-do/national-projects/athn10.html or email ATHN at support@athn.org.