Enrollment begins in natural history study of hypoparathyroidism
One aim of study is understanding how the disease evolves
A natural history study of hypoparathyroidism taking place at Columbia University Irving Medical Center in New York has started to enroll adult patients.
The study, called SHINE (NCT05793853), is recruiting an estimated 94 people, ages 18 and older, with any hypoparathyroidism subtype and undergoing any type of treatment — including conventional management or parathyroid hormone (PTH) replacement therapy. More information can be obtained by contacting Joana Gjeci at [email protected].
Its aim is to prospectively collect data on the natural history of hypoparathyroidism to understand how the disease evolves, determine its long-term complications, and assess the impact of current disease management strategies.
Led by Mishaela Rubin, MD, associate professor of medicine at Columbia University Vagelos College of Physician and Surgeons, the study is sponsored by the Office of Orphan Products Development at the U.S. Food and Drug Administration.
Retrospective studies, meaning when the analysis is conducted on data collected in the past, suggest standard strategies to manage hypoparathyroidism, namely high-dose calcium and active vitamin D, may contribute to certain complications.
The insights from the natural history study are expected to help ease disease impact on patients’ quality of life and long-term health.
“With new treatment options on the horizon, understanding the long-term complications of hypoparathyroidism can help both physicians and patients make informed decisions about their care pathways, including whether conventional treatment of calcium and vitamin D is appropriate for them. There is no ‘one size fits all approach’ in my opinion, and we are grateful to Dr. Rubin for her dedication to the hypoparathyroidism community,” Bari Vapnek, director of marketing and public relations for the Hypoparathyroidism Association, said in a press release.
Patients will be followed for three years, with annual assessments to determine the development of kidney, brain, blood vessel, and bone complications. Tests include a physical examination, as well as blood and urine work to test novel markers — including genetic factors — of calcification (calcium accumulation in tissues).
Hypoparathyroidism is caused by a deficiency in PTH and marked by low levels of calcium (hypocalcemia) and high levels of phosphorus (hyperphosphatemia) in the blood.
“We lack knowledge about the risk of long-term calcification in hypoparathyroidism,” Rubin said. “Understanding how frequent it is, who is likely to develop it, and how likely it is to progress can help us determine the best treatment approach with the goal of preventing it from occurring.”
Electrocardiograms to evaluate heart health, as well as cognitive and motor function tests also will be performed.