Vitamin D hydroxylation-deficient rickets, type 1B
MONDO:0010810An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.
Also known as: CYP2R1 vitamin D-dependent rickets, type 1, Vitam D hydroxylation-deficient rickets type 1b, rickets due to defect in vitamin D 25-hydroxylation deficiency, vitamin D 25-Hydroxylase deficiency, vitamin D hydroxylation-deficient rickets type 1b, vitamin D hydroxylation-deficient rickets, type 1B, vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1, 25-Hydroxyvitamin D3 deficiency, selective
84 clinical trials for this condition and its sub-types.
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New scoring system aims to cut child deaths from malnutrition in chad
Disease control CompletedThis study tested a simple scoring system called RISQ to help healthcare workers quickly identify which severely malnourished children are most at risk of dying. Over 14,600 children aged 6 to 59 months in Chad took part. The goal was to see if using the RISQ system could lower d…
Phase: NA • Sponsor: The Hospital for Sick Children • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New drug shows promise for Long-Term cholesterol control
Disease control CompletedThis study looked at the long-term safety of a drug called ARO-APOC3 in adults with dyslipidemia (abnormal fat levels in the blood). Participants who completed a previous 12-month study could continue receiving the drug every 3 or 6 months. The goal was to see if the drug remains…
Phase: PHASE2 • Sponsor: Arrowhead Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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Low-Dose statin shows promise for korean heart patients
Disease control CompletedThis study tested a low dose (10 mg) of the statin drug rosuvastatin in 242 Korean adults with high cholesterol or heart disease risk. The goal was to see how much it lowered 'bad' LDL cholesterol after 8 weeks. Results help guide cholesterol treatment in this population.
Sponsor: Seoul National University Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:24 UTC
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Can cookies fight malnutrition? new study tests a tasty solution
Disease control CompletedThis study tested whether special cookies made from soy, chickpea, and peanut flour could improve the health of malnourished children. Sixty children aged 3 to 10 years were split into two groups: one group ate the cookies daily for three months along with their regular diet, whi…
Phase: NA • Sponsor: Mairaj Noor • Aim: Disease control
Last updated Jun 27, 2026 12:02 UTC
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HIV heart risk targeted: new drug shows promise in reducing arterial inflammation
Disease control CompletedThis study tested whether a drug called alirocumab, which lowers cholesterol, can reduce heart disease risk in people with HIV. The trial involved 118 adults aged 40 and older with well-controlled HIV and high heart disease risk. Participants received either alirocumab or a place…
Phase: PHASE3 • Sponsor: University of California, San Francisco • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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New drug aims to lower dangerous fats in the blood
Disease control CompletedThis early-stage study tested a new medicine called ARO-ANG3 in 93 people, including healthy volunteers and patients with high cholesterol or high triglycerides. The main goal was to check if the drug is safe and how the body processes it. This research helps determine if the dru…
Phase: PHASE1 • Sponsor: Arrowhead Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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New chemo combo may lower death risk in child stem cell transplants
Disease control CompletedThis study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…
Phase: PHASE2 • Sponsor: medac GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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New scale could help predict fall risk for hospital patients in turkey
Diagnosis CompletedThis study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…
Sponsor: Sisli Hamidiye Etfal Training and Research Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 09:08 UTC
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New metabolomic test could spot rare metabolic diseases faster
Diagnosis CompletedThis study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…
Sponsor: Mayo Clinic • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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Physiotherapy students test muscle relief techniques on themselves
Symptom relief CompletedThis study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…
Phase: NA • Sponsor: Charles University, Czech Republic • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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Vitamin d pills tested as muscle saver for seniors with obesity
Symptom relief CompletedThis 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…
Phase: NA • Sponsor: Universidad Autónoma Benito Juárez de Oaxaca • Aim: Symptom relief
Last updated Jun 27, 2026 08:03 UTC
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Who should control your sedation during surgery? new study compares options
Symptom relief CompletedThis study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…
Phase: NA • Sponsor: GCS Ramsay Santé pour l'Enseignement et la Recherche • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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New registry tracks pregnancy in women with rare metabolic diseases
Knowledge-focused CompletedThis study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Gene hunt for rare cholesterol problems
Knowledge-focused CompletedThis study aimed to find new gene changes that cause rare lipid disorders. Researchers used advanced genetic testing to look at many genes at once in 140 people and their relatives. The goal was to discover causes that older methods missed.
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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New turkish health survey could improve care for muscle and joint problems
Knowledge-focused CompletedThis study translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…
Sponsor: Istanbul Bilgi University • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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Scientists probe fat particles to unlock heart disease secrets
Knowledge-focused CompletedThis study looked at how fat-carrying particles called lipoproteins work in healthy people and those with high cholesterol or other lipid disorders. Researchers injected tiny, safe amounts of radioactive lipoproteins to track them in the body. The goal was to better understand ho…
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC
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Researchers measure breathing, strength, and quality of life in hospitalized endocrine patients
Knowledge-focused CompletedThis completed observational study at Uşak University examined 150 adults hospitalized in the endocrinology department. Researchers measured breathing, muscle strength, pain, fatigue, sleep quality, physical activity, balance, and nerve function. The goal was to better understand…
Sponsor: Uşak University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Scientists probe hidden link between blood protein and heart disease
Knowledge-focused CompletedThis study looked at 99 people with high heart risk to understand how a protein called CETP affects plaque buildup in arteries. Researchers measured CETP activity, artery thickness, and calcium scores. The goal was to learn more about heart disease, not to test a new treatment.
Phase: NA • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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Physios take on ER duty: study tests if they can replace doctors for back pain
Knowledge-focused CompletedThis study tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…
Phase: NA • Sponsor: Bern University of Applied Sciences • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Can CRPS patients imagine movement? new study investigates
Knowledge-focused CompletedThis completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nīmes • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Study reveals HPV vaccine gaps in teens with chronic illness
Knowledge-focused CompletedThis study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC
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Hidden gut infections may sabotage TB recovery, study suggests
Knowledge-focused CompletedThis completed study looked at 141 people being treated for tuberculosis (TB) to see if intestinal parasites or poor nutrition made their recovery harder. Researchers checked stool samples for parasites and measured weight gain and treatment success. Some participants received nu…
Sponsor: Boston Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC
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Mind, spirit, and pain: new study explores what chronic pain patients really believe
Knowledge-focused CompletedThis study surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …
Sponsor: Gulseren Demir Karakilic • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC