Etidronate for Arterial Calcifications Due to Deficiency in CD73 (ACDC)
Status:
Completed
Trial end date:
2021-08-06
Target enrollment:
Participant gender:
Summary
Background:
- Arterial Calcifications due to Deficiency in CD73 (ACDC) is a rare genetic disease.
People with ACDC develop calcium deposits in the arteries and joints of the fingers,
wrists, ankles and feet. These deposits cause severe pain in the hands and feet, even
when the person is at rest, and may lead to loss of the affected hand or foot.
Currently, there are no standard treatments for ACDC.
- Etidronate is a drug that helps to slow or stop the natural process that dissolves bone
tissue. It is approved to treat Paget s disease, a condition in which the bones are soft
and weak and may be deformed, painful, or easily broken. It is also used to treat high
blood calcium levels. Researchers want to see if it can be used to treat the symptoms of
ACDC and improve pain and blood flow in the hands and feet.
Objectives:
- To see if etridronate is a safe and effective treatment for ACDC.
Eligibility:
- People between 18 and 80 years of age who have been diagnosed with ACDC.
Design:
- Participants will be screened with a physical exam and medical history. They will also
have imaging studies, including x-rays and DEXA bone scans, before starting treatment.
Blood and urine samples will be collected. An exercise tolerance test will also be
given.
- Participants will take etridronate by mouth once a day for 14 days every 3 months. They
will be assigned an individualized 6-month drug schedule to follow. Participants should
not eat foods that are high in calcium for at least 2 hours after taking the study drug.
- Participants will have regular study visits throughout the treatment period. These
visits will involve imaging studies, full dental exams, and blood and urine tests.
Participants will also have exercise tolerance tests and arm and leg blood pressure
tests to measure pain and blood flow.
- Participants may also provide tissue samples for further study.
- Treatment will continue for up to 3 years as long as the side effects are not severe and
the condition does not become worse. Participants will have a final follow-up visit
after stopping treatment.