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2 articles from the last 90 days matching "disease overview"

Clinical trialCLINICALTRIALSMay 7

Trial Results Posted: Calcitriol Monotherapy for X-Linked Hypophosphatemia (NCT03748966)

Researchers at Massachusetts General Hospital completed a small study testing whether a vitamin D medication called calcitriol could help people with X-linked hypophosphatemia (XLH), a rare genetic condition that causes weak bones and low phosphate levels in the blood. Sixteen children and adults took calcitriol alone for one year to see if it could improve their phosphate levels and bone strength without causing kidney problems. The study also looked at whether the treatment helped children grow taller.

WHY IT MATTERSThis completed trial tested a simpler treatment approach for XLH using calcitriol monotherapy, which could potentially reduce the pill burden for patients who typically need both calcitriol and phosphate supplements.
💬 Ask your doctorX-linked HypophosphatemiaHypophosphatemic Rickets, X-Linked
Clinical trialCLINICALTRIALSApr 14

Trial Now Recruiting: Monogenic Kidney Stone - Genetic Testing (NCT03305835)

Researchers at Mayo Clinic are looking for 6,000 people with rare kidney stone diseases caused by a single gene mutation to join a study. The study will identify which specific genes and genetic changes cause these kidney stones. By understanding the genetics behind these stones, scientists hope to develop better treatments in the future.

WHY IT MATTERSIf you have a rare monogenic kidney stone disease, this trial could help identify the genetic cause of your condition and accelerate development of targeted treatments — and you can enroll now.
You can act on thisMonogenic kidney stone diseasePrimary hyperoxaluriaDent disease

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