Cure HHT

Cycle 1

Web:

Contact:

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 May 2024

Clinical

Disease Class

Rare circulatory system diseases

Rare developmental anomalies during embryogenesis

Rare genetic diseases

Rare gynecological and obstetric diseases

Rare hematological diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Hematopoietic / Lymphatic / Immune

Nervous / Sensory

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Blood

Blood vessels (veins, arteries)

Bone marrow

Brain

Ears

Eyes

Heart

Intestines

Kidneys

Liver

Lungs

Mouth / teeth

Nose

Skin

Spinal cord

Spleen

Stomach

Throat

Uterus

Genes

ACVRL1

ENG

GDF2

RASA1

SMAD4

Type of Inheritance

Autosomal dominant

Disease Mechanism(s)

Abnormal cell proliferation

mTOR pathways dysregulation

Age of Onset

Early childhood (age 1+-5)

Incidence

1001-10000

Prevalence

10000+

Symptoms / Phenotypes

anemia

breathing difficulties

cardiac abnormalities

headaches / migraines

hemorrhage/bleeding

menorrhagia

nose bleed / epistaxis

pulmonary hypertension

stroke

telangiectases

Biomarkers

Diagnostic

· angiopoietin-2 and soluble endoglin,miR-210,ncRNAs

Prognostic

· IGF-1, miR-27a, miR-205, miR-210

Therapeutic

· microRNAs,ncRNAs

Existing Therapies

Drugs used off-label

· Bevacizumab (Avastin), (Pazopanib )Votrient, Pomolidamide, Sirolimus

Organizational & Research

Cell Lines, location

New York Stem Cell Foundation

University of California Irvine (UCI)

Cell Lines, share

Disease Model

Mouse

Zebrafish

Disease Model, location

Barrow Neurological Institute

Duke University

Feinstein Institutes for Medical Research

Newcastle University

Tulane University

University of Florida

University of Pittsburgh

Disease Model, share

Yes

Clinical Trial Role

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

Biobank

Massachusetts General Hospital

Center of Excellence

Augusta University

Barrow Neurological Institute

Cincinnati Children's Hospital

Cleveland Clinic

Johns Hopkins Hospital

Massachusetts General Hospital

Mayo Clinic

NY Presbyterian-Columbia

Oregon Health and Sciences University (OHSU)

Stanford University

Texas Childrens Hospital

University of Alabama

University of Arkansas

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 North Carolina (UNC)

University of Pennsylvania (PENN)

University of Pittsburgh Medical Center

University of Texas Southwestern Medical Center (UTSW)

University of Utah

Universtiy of Wisconsin-Frodert

Washington University

Yale University Hospital

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 a natural history study that we created

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Platform, Natural History Study

IAMRARE

Other

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Yes

Clinical/Treatment Guidelines

Yes

Organizational Roles

Director of Operations/Director of Development

Executive Director

Patient Engagement Manager/Director

Registry Coordinator

Research/Scientific Director

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Research Roadmap

Yes we have a Research Roadmap, and will share policies

International Chapters

None

International Partners

Asia

Europe

Middle East

Oceania

South America