This study is NOT currently recruiting participants.
Number
12-H-0110
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 18 Years Max Age: 80 Years
Referral Letter Required
No
Population Exclusion(s)
Children
Keywords
NT5E; Bisphosphonates; Vascular Calcifications; Joint Capsule Calcifications; Inherited Disease
Recruitment Keyword(s)
None
Condition(s)
Arterial Calcification; CD73 Deficiency
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Drug: Etidronate Device: MRI Scan
Supporting Site
National Heart, Lung and Blood Institute
- Arterial Calcifications due to Deficiency in CD73 (ACDC) is a rare genetic disease. People with ACDC develop calcification in the arteries of the lower extremities as well as calcium deposit in the joints of the fingers, wrists, ankles and feet. The lower extremities calcification causes claudication because of severe ischemia requiring at time revascularization procedures. the calcium deposits in the joints causes severe debilitating pain in the hands and feet. Currently, there are no standard treatments for ACDC.
- Etidronate is a bisphosphonate that interferes with bone metabolism. 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 calcifications of ACDC and improve pain and blood flow in the lower extremities and arthritic pain of the hands and feet.
Objectives:
- To see if etidronate 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 CT scan of the lower extremities, x-rays and DEXA bone scans, before starting treatment. Blood and urine samples will be collected. An exercise tolerance test will also be given and ABI (ankle brachial index will be measured.
-Participants will take etidronate by mouth once a day for 14 days every 3 months. They will be assigned an individualized 6- month drug schedule to follow.
-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 ABIs measured.
-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.
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INCLUSION CRITERIA Inclusion and exclusion criteria are to be assessed at Screening and Baseline prior to starting study drug. Each subject must meet the following criteria to be enrolled in this study: -Subjects must be diagnosed with ACDC based on genetic tests confirming mutation(s) in NT5E and evidence of lower extremity arterial calcifications. -Either gender and any ethnic background or race -Age 18-80 years -Willingness and legal ability to give and sign informed study consent -Willingness to travel to NIH and local sites for scheduled protocol studies and treatment EXCLUSION CRITERIA Subjects who meet any of the following criteria will be excluded from the study: -Subjects not diagnosed with ACDC -Subjects <18 or >80 years of age -Subjects who are unable or unwilling to sign an informed consent -Severe renal impairment (estimated creatinine clearance/eGFR of < 30ml/min calculated using CKD-EPI equation) -Longstanding diabetes mellitus (more than 10 years) -Known abnormality of the esophagus that would interfere with the passage of the drug -Known sensitivity to etidronate -Pregnancy -Any other medical or social condition that, in the opinion of the Principal Investigator, might put the subject at risk of harm during the study or might adversely affect the interpretation of the study data.
Inclusion and exclusion criteria are to be assessed at Screening and Baseline prior to starting study drug. Each subject must meet the following criteria to be enrolled in this study:
-Subjects must be diagnosed with ACDC based on genetic tests confirming mutation(s) in NT5E and evidence of lower extremity arterial calcifications.
-Either gender and any ethnic background or race
-Age 18-80 years
-Willingness and legal ability to give and sign informed study consent
-Willingness to travel to NIH and local sites for scheduled protocol studies and treatment
EXCLUSION CRITERIA
Subjects who meet any of the following criteria will be excluded from the study:
-Subjects not diagnosed with ACDC
-Subjects <18 or >80 years of age
-Subjects who are unable or unwilling to sign an informed consent
-Severe renal impairment (estimated creatinine clearance/eGFR of < 30ml/min calculated using CKD-EPI equation)
-Longstanding diabetes mellitus (more than 10 years)
-Known abnormality of the esophagus that would interfere with the passage of the drug
-Known sensitivity to etidronate
-Pregnancy
-Any other medical or social condition that, in the opinion of the Principal Investigator, might put the subject at risk of harm during the study or might adversely affect the interpretation of the study data.
Principal Investigator
Referral Contact
For more information: