NCT03538639

Vascular Disease Discovery Protocol

Recruiting now Last updated 8 April 2026

What this trial tests

trial in Vascular Dysfunction in 1,000 participants. Currently enrolling.

Timeline

30 July 2018

Primary endpoint
30 November 2027

15 May 2037

Quick facts

Lead sponsor	National Heart, Lung, and Blood Institute (NHLBI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	1,000
Start date	30 July 2018
Primary completion	30 November 2027
Estimated completion	15 May 2037
Sites	1 location across United States

Conditions studied

• Vascular Dysfunction — all drugs for Vascular Dysfunction →
• Genetic Mutations — all drugs for Genetic Mutations →
• Genetic Predisposition — all drugs for Genetic Predisposition →

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Who can join

Adults 2 to 100, any sex, with Vascular Dysfunction or Genetic Mutations. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Background:

Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels. They want to collect data and specimens from affected people, their family members, and healthy people.

Objective:

To study diseases of the heart and/or blood vessels.

Eligibility:

People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives

Healthy volunteers

Design:

Participants will be screened with a medical history, physical exams, and imaging tests. Participants may have a few visits or visits for 2 weeks or more. This will depend on their age and disease status. Visits may include:

Photographs of the face and body

Heart tests

Samples taken of blood, urine, saliva, skin, and/or tissue

Scans. For some, a dye may be injected into a vein.

A six-minute walk test

Lung tests. For some, participants will blow into a tube. For others, they will breathe in a gas from a mask, have a small injection, then have a scan.

Stress tests while walking on a treadmill or riding a stationary bike

Ultrasound of veins and arteries

Devices outside the body testing the stiffness and function of arteries

Eye exam and eye tests. For some, a dye may be injected in a vein.

Blood pressure tests

Measurements of blood flow under the skin and in the arms and fingernail blood vessels

Devices outside the body testing flexibility of the blood vessels and skin, and skin temperature

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).
   Ferrante EA, Cudrici CD, Rashidi M, Fu YP, et al · · 2024 · cited 11× · PMID 38568107 · DOI 10.1177/1358863x241235669
2. Multifocal calcific periarthritis with distinctive clinical and radiological features in patients with CD73 deficiency.
   Cudrici CD, Newman KA, Ferrante EA, Huffstutler R, et al · · 2021 · cited 8× · PMID 33744914 · DOI 10.1093/rheumatology/keab270
3. Enhanced accuracy of NIRS-vascular occlusion testing through incorporation of conduit artery diameter.
   Park S, Mathew J, Leifer E, Osgood S, et al · · 2026 · PMID 41769178 · DOI 10.1088/2515-7647/ae4862