Cure HHT

Cycle 1

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Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that causes malformed blood vessels and can affect multiple organs of the body. HHT can cause bleeding in several different organs of the body. The most commonly experienced symptom is nosebleeds. Severity of bleeding can range from a simple nuisance to bleeds that require blood transfusion. Other commonly affected organs are the brain, lungs, and GI tract.

Last updated 04/30/2026

Clinical

Disease Class

Circulatory system diseases

Epilepsy and seizure disorders

Genetic diseases

Gynecological and obstetric diseases

Hematological diseases

Hepatic diseases

Vascular disease

Body Systems

Cardiovascular / Circulatory

Digestive

Hematopoietic / Lymphatic / Immune

Nervous / Sensory

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Arteries

Blood

Blood vessels (veins, arteries)

Brain

Heart

Intestines

Liver

Lungs

Mouth / teeth

Nails

Nose

Skin

Spinal cord

Spleen

Stomach

Throat/pharynx

Uterus

Veins

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

ACVRL1

ENG

GDF2

RASA1

SMAD4

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Newborn Screening

Disease Mechanism(s)

Aberrant immune response

Abnormal cell proliferation

Cell signaling defects

Receptor defect

Vascular/Angiogenesis Defects

mTOR pathways dysregulation

Age of Onset

Infancy (age 0-1)

Average Age at Diagnosis

Adulthood (age 18-64)

Life Expectancy

Adulthood (age 18-64)

Affected Sex(es)

Female

Male

National Prevalence

10000+

Global Prevalence

10000+

National Incidence

1001-10000

Global Incidence

1001-10000

Symptoms / Phenotypes

anemia

breathing difficulties

cardiac abnormalities

headaches / migraines

hemorrhage/bleeding

menorrhagia

nose bleed / epistaxis

pulmonary hypertension

stroke

telangiectases

Biomarkers

Diagnostic

· Genetic biomarkers - mutations in ENG (Endoglin), ACVRL1 (ALK1), SMAD4, or GDF2 (BMP9) identify the presence of HHT

Monitoring

· For prognosis, monitoring and therapy biomarkers, the field uses clinical blood values most often. These include hemoglobin, ferritin, iron, and iron saturation. Hemoglobin is typically used as a therapeutic outcome measure, with increases in hemoglobin indicating a positive change or effect.

Other

· Investigational biomarkers or emerging biomarkers in HHT include ANG2, TGFb, and VEGF.

Prognostic

Therapeutic

Existing Therapies

Expanded access (Compassionate Use)

Off-Label Drug Use

Therapies in Development

Antibody-based therapy (monoclonal antibodies, biologics)

· Diag 723, TX 2100

Devices/medical equipment

· Medtronic MVP Plug

Other (please specify)

· Iron Fusion-various preparations

RNA interference (RNAi) therapy (siRNA, etc.)

· ALN 6400

Repurposed drug

· Bevacizumab, pazopanib, pomolidamide,

Small molecule therapy (novel small molecule drugs)

· Ter 1754, Engasertib, ATV 1601

Therapeutic Development Stages

IND/CTA submitted but not approved

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Funding

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Sample provision

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Travel coordination

Organizational & Research

Cell Lines

Endothelial cells

iPSCs

Plasma

Cell Lines, Institution

New York Stem Cell Foundation

Stanford University

University of California Irvine (UCI)

Cell Lines, Involvement

Consulted

Funded

Cell Lines, share

Some of our cell lines are freely available

Disease Model

Mouse

Zebrafish

Disease Model, Involvement

Funded

Disease Model, share

All our disease models are freely available

Organizational Challenges

Research infrastructure development is sorely needed. We have two full time people and 5 trials to launch just this year. We also are struggling with determining a master research infrastructure plan and seeking private funding to ensure these trials can be most efficient. We have access to the patients globally and have demonstrated that we can complete recruitment early. It is becoming increasingly difficult to manage all of these relationships with them all competing at the same time. I would appreciate any help in navigating this space and a few are in Phase 3 so regulatory and payor issues will become important as well.

Clinical Trial Role

Data analysis

Data sharing

Focus group

Funding

Meeting with regulators

Outcome measures, development

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Results dissemination, publication

Study material design, review (not protocol)

Study protocol design, review

Travel coordination

Clinical Trial Types

Observational

Phase 1

Phase 2

Phase 3

Biobank, Institution

Massachusetts General Hospital

Biobank, Involvement

Designed

Funded

Center of Excellence, Institution

Akita University School of Health Services

Augusta University

Barrow Neurological Institute

Children’s Hospital of Philadelphia (CHOP)

Cincinnati Children's Hospital

Cleveland Clinic

Columbia University

Essen University Hospital

Hammersmith Hospital

Hopital Ambrose Pare

Hospital Italiano de Buenos Aires

Hospital Maciel

Hospital Pereira Rossell Pediatric Center

Hospital Universitari de Bellvitge

Hospitals of the City of Cologne

Hotel Dieu

Hull Royal Infirmary

Innovative Hematology and the Indiana Hemophilia & Thrombosis Center (IHTC)

Johns Hopkins Hospital

Massachusetts General Hospital

Mayo Clinic

Mercy University Hospital

NY Presbyterian-Columbia

Odense University Hospital

Oregon Health and Sciences University (OHSU)

Ospedale Maggiore di Crema

Philipps-University Marburg

Rikshospitalet University Hospital

Royal Melbourne Hospital

Royal Prince Alfred Hospital

Schneider Children's Medical Center of Israel

Singapore General Hospital

St. Antonius Ziekenhuis

Stanford University

Texas Childrens Hospital

The First Affiliated Hospital of China Medical University

UZ Leuven

University of Alabama

University of Alberta

University of Arkansas

University of Bari

University of California San Diego (UCSD)

University of California San Francisco (UCSF)

University of California, Los Angeles (UCLA)

University of Chicago

University of Colorado

University of Florida

University of Miami

University of Montreal

University of North Carolina (UNC)

University of Pennsylvania (PENN)

University of Pittsburgh Medical Center

University of Texas Southwestern Medical Center (UTSW)

University of Toronto

University of Utah

University of Wisconsin-Froedtert

Universitätsklinikum des Saarlandes

Washington University

Yale University Hospital

Center of Excellence, Involvement

Consulted

Designed

Endorsed/Certified/Accredited

Funded

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Both

Platform, Registry

Other

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

IAMRARE

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-11 code specific to our exact disease

Diagnostic Guidelines

Yes, we have published formal guidelines in a peer-reviewed journal

Yes, we have guidance available on our website

Yes, we have accredited guidelines

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None

Asia

Europe