Promising New Drug for Rare and Painful Genetic Disease

A recent clinical trial funded by the National Heart, Lung, and Blood Institute (NHLBI) shows promise for treating a rare and painful genetic disease called Arterial Calcification Due to Deficiency of CD73 (ACDC). This is the first potential effective treatment for the condition.

Understanding ACDC

ACDC is an extremely rare, debilitating disease affecting only about 20 people worldwide. It disrupts the body’s natural calcium regulation, leading to excessive calcium buildup in the arteries, primarily in the legs, and in the joints of the hands. This buildup restricts blood flow, causing severe pain, difficulty walking, and in severe cases, potential limb loss. The disease typically presents in a person’s late teens or 20s, significantly impacting their quality of life.

Etidronate: A Potential Treatment

Researchers were able to identify the ACDC gene and the underlying cause of the disease. This knowledge led them to investigate an existing drug called etidronate, typically used for bone diseases, as a potential treatment for ACDC. The initial clinical trial involved seven ACDC patients – a significant portion of all known cases worldwide.

Over a three-year period, the trial participants received etidronate orally for 14 days every three months. The researchers monitored the patients’ progress using CT scans to track the development of new calcium deposits and an ankle brachial index to assess blood flow in the legs.

Early Signs of Efficacy

The study results are encouraging. Etidronate appears to be safe with no reported side effects. More importantly, it seems to slow down the formation of new calcium deposits and the worsening of blood flow problems in the legs. This suggests that etidronate could potentially help manage the progression of ACDC and improve patients’ long-term outcomes. However, the drug did not reverse existing calcium buildup or significantly improve current blood flow. Interestingly, questionnaires administered to the patients suggested subjective improvements in pain and mobility. This indicates that etidronate might offer symptomatic relief in addition to slowing disease progression.

Looking Forward: A Brighter Future for ACDC Research

This groundbreaking study paves the way for developing better treatments for ACDC. The lessons learned from this initial trial can inform the design of larger clinical trials with more participants. Additionally, the research findings might provide valuable insights into other diseases involving excessive arterial calcium buildup, such as peripheral artery disease and atherosclerosis. This knowledge could lead to the development of new treatment strategies for a broader range of vascular conditions.

Further Information

The research is published in the journal Vascular Medicine ([reference information]). This study was led by Dr. Elisa Ferrante and Dr. Alessandra Brofferio of the NHLBI. Their work offers significant hope for ACDC patients and advancements in the field of vascular medicine.

Posted April 2024.

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