How does hypoparathyroidism evolve and progress over time? Are available treatment and management strategies providing efficacious disease control? What are the long-term effects of hypoparathyroidism on overall health—and are there any potential complications from calcium buildup in body tissues (calcification)? These are all questions that researchers hope to answer in the SHINE study, a natural history study. 

The SHINE study aims to develop a more comprehensive understanding of hypoparathyroidism. Altogether, an estimated 94 adult participants will enroll. Participants may have any subtype of hypoparathyroidism and can be on any type of treatment; this includes parathyroid hormone (PTH) replacement therapy. Ultimately, data from the study could be used to alter treatment and help both doctors and patients make more informed care decisions. 

Participants within the study will be followed for a 3-year period. Each year, they will undergo a number of different tests and visits to identify potential underlying genetic elements relating to hypoparathyroidism, markers of calcification in bodily fluids, and how well various organs are functioning.

If you are interested in learning more about the SHINE study, please contact Joana Gjeci at Columbia University. 

What is Hypoparathyroidism?

Hypoparathyroidism is a rare condition in which the four parathyroid glands fail to secrete enough PTH. Normally, PTH helps to balance calcium and phosphorus levels in the body. When you don’t have enough PTH, it causes these levels to become abnormally high (phosphorus) or abnormally low (calcium). This may result from surgical removal of the thyroid or parathyroid glands, autoimmune diseases, extensive cancer treatment around the head and neck, or low levels of blood magnesium. If anyone in your family has hypoparathyroidism, you are also more likely to have this condition. Treatment often hinges on PTH, vitamin D supplementation, or high-calcium and low-phosphorus diets.

Symptoms may include:

• Fatigue and general weakness
• Patchy hair loss
• Tingling and numbness in the fingers, toes, and lips
• Tetany (painful and uncontrollable twitching and spasms, often around the mouth, hands, arms, and throat)
• Difficulty breathing
• Muscle pain and cramping in the legs, abdomen, feet, and face
• Nail brittleness
• Dry, coarse skin
• Seizures (complication)
• Dental malformations (complication)
• Impaired kidney function (complication)
• Cataracts (complication)