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Surveys/ Studies

Help advance HHT Research!

Rare Disease Surveys & Studies

Various HHT related research studies take place throughout the year. You or a family member may be interested in furthering the advancement of HHT research by participating in one or all of the research surveys or studies listed below.

Please note that the listed surveys and studies are not necessarily conducted or overseen by Cure HHT, but are beneficial to HHT or rare disease research.

Current Surveys and Studies

Study: Validating a New Nosebleed Management Tool

Cure HHT, in partnership with doctors at Johns Hopkins’ Hospital HHT Center of Excellence, invites you to participate in a study aimed at validating a nosebleed eDiary tool that represents a critical element in our ability to gain FDA approval for future drugs and treatments.

Currently, a standardized tool does not exist that helps accurately capture and scale HHT patients’ data around quality of life and impact of their nosebleeds (duration, frequency, severity, etc.). By participating in the validation of this tool…

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Become a Tissue Donor

Duke University, through a separate BVMC project, is collecting vascular malformations (VMs) associated with HHT to search for somatic mutations, possibly occurring in different genes than the ones already identified. All HHT patients undergoing surgery to remove an AVM from any organ (i.e., liver, lung, brain, skin, etc.), are encouraged to consider donating  tissue. You do not need to have a brain AVM to participate in this study project.

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Hopkins Survey: Developing Future Treatment for Nosebleeds

NEW SURVEY: Cure HHT, in partnership with doctors at the Johns Hopkins Hospital HHT Center of Excellence, invites you to participate in a brief survey aimed at improving our ability to develop future therapies and drugs for nosebleed management.

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FREE Genetic Testing for Rare Diseases

The Rare Genomes Project is a patient-driven research project through the Broad Institute that performs full genome sequencing on families with suspected rare disease who do not have a genetic diagnosis. The goal of their project is two-fold: (1) provide access to testing for families that are genetically undiagnosed and (2) discover previously un-identified gene…

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Suffer from brain AVMs? You can help further HHT research today

Cure HHT, along with HHT Centers of Excellence across North America, are now actively recruiting HHT patients worldwide to participate in the NIH funded study, entitled “Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia (HHT)”. The goal of this research is to determine what genetic and clinical factors signal high risk for hemorrhage from brain AVMs.…

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NARRATE Study: Rare Disease Survey

The Children’s Hospital of Philadelphia is conducting a research study aimed at identifying needs among communities affected by rare disease with hopes of bridging existing communication gaps between rare disease patients, families, and physicians. Adult parents and patients living with rare diseases are invited to participate in an online survey.

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Recently Closed Studies

NYMAC Genetic Counseling Survey

The University of Arkansas for Medical Sciences

Hopkins Quality of Life Patient Survey

HHT Center of Excellence at Johns Hopkins School of Medicine

Assessing the care and treatment HHT patients receive for cutaneous telangiectasia

Augusta University HHT Center of Excellence

Date closed:  7/2022

Date closed:  5/9/2022

Date closed:  3/23/2022

Abnormal Uterine Bleeding in Women with HHT

HHT Center of Excellence at the University of North Carolina

Date closed:  3/15/2022

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