Rickets

This study tested whether giving only calcitriol (a form of vitamin D) to 16 children and adults with X-linked hypophosphatemia (XLH) could raise blood phosphate levels and improve bone growth without causing kidney stones. Participants took increasing doses of calcitriol for one…

This study tested a drug called burosumab in 12 people with fibrous dysplasia who also had low blood phosphate, which can make bones weaker. Participants injected the drug at home once or twice a month for 48 weeks. The main goal was to see if the drug could raise phosphate level…

This study tested whether taking a high dose of vitamin D3 daily for 12 weeks could improve muscle strength and mass in older adults with obesity. Researchers enrolled 29 participants aged 60 and older in southern Mexico. They measured handgrip strength, muscle mass, and physical…

This study looks back at medical records of people with two rare genetic conditions—ENPP1 deficiency and the early-onset form of ABCC6 deficiency—to map how these diseases progress over time. By collecting information on symptoms, imaging, and growth, researchers hope to better u…

This completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over…

This study follows about 25 adolescents aged 12–17 with X-Linked Hypophosphatemia (XLH) who are being treated with burosumab and are nearing the end of their skeletal growth. Researchers will track symptoms, activity levels, and overall burden through surveys and interviews over …

This study follows children aged 2 to 18 with confirmed ENPP1 deficiency or early-onset ABCC6 deficiency to understand how these rare diseases progress. Researchers will measure blood markers, check for calcification in arteries and organs, and track bone health and movement over…

This study tested a new device to collect urine from premature newborns in a gentler way. The goal was to see if it is easy for nurses to use and comfortable for babies. Twenty babies took part, and the device was compared to current methods. The study focused on how well the dev…

This study looked at 167 adults with chronic kidney disease on either hemodialysis or peritoneal dialysis to compare their blood levels of calcium, phosphorus, and other minerals linked to bone health. The goal was to see if one dialysis method is associated with fewer mineral an…