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
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…Learn More >>
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.Learn More >>
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.Learn More >>
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…Learn More >>
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.…Learn More >>
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.Learn More >>
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