Atypical kidney lesions in adult patients may be caused by a mutation associated with a rare type of hypoparathyroidism, according to a case report. The study,“Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with…
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As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…
Screening for asymptomatic hypoparathyroidism should be considered in transfusion-dependent thalassemia patients to allow for early disease detection and intervention, researchers suggest. Their study, “Under-recognized Hypoparathyroidism in Thalassemia,” was published in the Journal of Clinical Research in Pediatric Endocrinology. The occurrence of asymptomatic hypoparathyroidism, defined as low levels…
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
Transplant surgery that moves two or more parathyroid glands and places them elsewhere in a patient — a process called autotransplantation — can prevent postoperative hypoparathyroidism after the thyroid is totally removed in people with cancer in that gland, researchers report. Their study, “Postoperative hypoparathyroidism after total thyroidectomy for thyroid cance…
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…
Lower doses of a previously approved treatment for hypoparathyroidism are effective and safe to treat a subset of patients, according to Phase 3 clinical study. The study “Safety and Efficacy of Recombinant Human Parathyroid Hormone in Adults With Hypoparathyroidism Randomly Assigned to Receive Fixed 25-μg or 50-μg Daily Doses”…
Mirror-image versions of existing, naturally-occurring molecules called peptides, can lead to longer-lasting therapeutics, new research shows. For patients, including those with hypoparathyroidism, the discovery could translate into less frequent injections and possibly more therapies being developed in a pill form. The study with those findings, “Method to generate highly…
Shire presented new data on its approved therapy Natpara for the treatment of patients with chronic hypoparathyroidism at ENDO 2018, the Endocrine Society’s 100th Annual Meeting and Exposition held March 17-20 in Chicago. Natpara is a recombinant human parathyroid hormone (rhPTH) that’s designed to replace the natural hormone, called PTH,…
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