The European Commission has granted orphan drug designation to AZP-3601, Amolyt Pharma’s investigational therapy to treat hypoparathyroidism. Orphan designation is given to promising treatment candidates for life-threatening and debilitating rare diseases, those affecting not more than five in every 10,000 people in the European Union. The designation will…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
A woman in China developed rare changes in her heartbeat, which were associated with low blood calcium caused by hypoparathyroidism, according to a case report. Using an electrocardiogram (ECG) — a line graph that shows how the electrical activity of the heart changes over time — scientists were able…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Hypoparathyroidism caused a buildup of pressure around a young girl’s brain, according to a report from Italy focused on a difficult diagnosis. “Our case report is of particular interest, since the child did not present with typical neurological hypoparathyroidism symptoms,” the researchers wrote. “Therefore, we recommend that hypoparathyroidism should…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Transplanting parathyroid gland cells into the forearms of a hypoparathyroidism rat model restored hormone and calcium levels, a study reported. These findings support further developing a parathyroid cell transplant for people with hypoparathyroidism caused by the removal of the parathyroid glands, the scientists said.
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Six months of treatment with Forteo (teriparatide) — a lab-made parathyroid hormone fragment approved for osteoporosis — safely led to calcium and phosphate control in a 4-month old girl with severe hypoparathyroidism, a case report found. These findings highlight the potential of this off-label medication to treat infants with…
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