[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"x-linked-hypophosphatemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:x-linked-hypophosphatemia":116},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,52,85,104],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":46,"leadSponsor":48,"locationsCount":51},"100556479","phase-1-a-first-in-human-study-of-kk8123-in-adults-with-x-linked-hypophosphatemia-100556479",false,"NCT06525636","A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia","A Multicenter, Open-label, Phase 1\u002F2, Dose-escalation and Subsequent Safety Extension Study of Subcutaneous KK8123 in Adult Patients With X-linked Hypophosphatemia","Inclusion Criteria:\n\n* Part 1: Inclusion Criteria:\n\n  1. Male or female patients aged 18 to 65 years inclusive at the time of signing the ICF.\n  2. Body weight is at least 40 kg.\n  3. Diagnosed with XLH (as documented by the investigator).\n  4. Have a value of fasting serum phosphorus \\\u003C 2.5 mg\u002FdL (0.81 mmol\u002FL) at Screening.\n  5. Have a value of renal TmP\u002FGFR \\\u003C 2.5 mg\u002FdL (0.81 mmol\u002FL) at Screening.\n  6. eGFR ≥ 60 mL\u002Fmin (using the Chronic Kidney Disease Epidemiology Collaboration equation \\[Inker, 2021\\]) at Screening.\n  7. Have a corrected serum calcium level \\\u003C 10.8 mg\u002FdL (2.7 mmol\u002FL) at Screening.\n  8. Provide a signed ICF.\n  9. Agree not to change diet and exercise regimen from one week prior to dosing to end of study.\n  10. Have a negative pregnancy test at Screening and be willing to have additional pregnancy tests during the study (female participants only).\n  11. If taking chronic pain medications (including narcotic pain medications\u002Fopioids), must be on a stable regimen for at least 21 days prior to the Screening visit, and be willing to maintain medications at the same stable dose(s) and schedule throughout the clinical trial. The dose must not exceed 60 mg oral morphine equivalents\u002Fday.\n  12. Be willing to use a method of contraception following local country guidelines while participating in the study and for 5 months after the last dose (all sexually active participants of childbearing potential).\n\n      Women of non-childbearing potential are defined as permanently sterile (i.e., due to tubal ligation at least one year before Screening, hysterectomy or bilateral oophorectomy) or postmenopausal (defined as at least 12 months post cessation of menses without an alternative medical cause).\n\n      Postmenopausal status of female participants will be confirmed with a Screening serum follicle-stimulating hormone level \\>40 mIU\u002FmL.\n  13. Must, in the opinion of the investigator, be willing and able to complete all aspects of the study, adhere to the study visit schedule and comply with the assessments.\n\nExclusion Criteria:\n\n* Part 1: Exclusion Criteria:\n\n  1. For XLH patients previously treated with burosumab, use of burosumab within 7 months prior to ICF signature.\n  2. Prior history of positive test for human immunodeficiency virus antibody, positive test for hepatitis B surface antigen, and\u002For hepatitis C virus antibody at Screening.\n  3. History of hypersensitivity to any ingredient of any therapeutic monoclonal antibody.\n  4. Have an active infection.\n  5. Grade 3 or greater nephrocalcinosis as confirmed by renal ultrasound.\n  6. Uncontrolled diabetes mellitus at Screening.\n  7. History of known immunodeficiency.\n  8. History of alcoholism or drug abuse.\n  9. History of donation of blood within 60 days prior to Screening.\n  10. Use of any IP or investigational medical device within 30 days prior to Screening, or requirement for any investigational agent prior to completion of all scheduled study assessments.\n  11. Use of any therapeutic mAb within 90 days prior to Screening.\n  12. Use of pharmacologically active vitamin D, its metabolites or analogs, oral phosphate for treatment of XLH, aluminum hydroxide antacids, acetazolamide, thiazide diuretics, and\u002For systemic corticosteroids within 14 days prior to Screening. If the participant takes any of these medications, a washout period of 14 days will be required after signing the ICF and before any other screeening assessments begin.\n  13. Use of medication to suppress PTH (e.g., calcimimetics) within 2 months prior to Screening and for the duration of the study.\n  14. Use of denosumab within 6 months prior to Screening.\n  15. Use of oral bisphosphonates in the 2 years prior to Screening.\n  16. Use of teriparatide or abaloparatide in the 2 months prior to Screening.\n  17. Plasma iPTH ≥ 2.5 × ULN at Screening.\n  18. Planned or recommended orthopedic surgery during the study.\n  19. History of traumatic fracture or orthopedic surgery within 6 months prior to Screening.\n  20. Participants who are lactating.\n  21. Current active and symptomatic COVID-19 infection at Day -1.\n  22. Presence or history of any condition that, in the view of the investigator, places the participant at high risk of poor treatment compliance or of not completing the study, or that would confound safety or interpretation of results.\n\nPart 2: Inclusion Criteria:\n\n1. Completion of relevant cohort in Part 1 of the study.\n2. Provide a signed informed consent after the nature of Part 2 of the study has been explained.\n3. Body weight is at least 40 kg.\n4. Negative pregnancy test at Week 0 of Part 2 and willing to have additional pregnancy tests until the end of the study (female participants only).\n5. If taking chronic pain medications (including narcotic pain medications\u002Fopioids), must be on a stable regimen for at least 21 days prior to Week 0 of Part 2, and be willing to maintain medications at the same stable dose(s) and schedule throughout the study. The dose must not exceed 60 mg oral morphine equivalents\u002Fday.\n6. Be willing to use a method of contraception following local country guidelines while participating in the study and for 5 months after the last dose (all sexually active participants of childbearing potential). Women of non-childbearing potential are defined as permanently sterile (i.e., due to tubal ligation at least one year before Screening, hysterectomy or bilateral oophorectomy) or postmenopausal (defined as at least 12 months post cessation of menses without an alternative medical cause). Postmenopausal status of female participants will be confirmed with a Week 0 serum follicle-stimulating hormone level \\>40 mIU\u002FmL.\n7. Must, in the opinion of the investigator, be willing and able to complete all aspects of the study, adhere to the study visit schedule and comply with all the assessments.\n\nPart 2: Exclusion Criteria:\n\n1. Use of burosumab following completion of Part 1 of the study.\n2. Have an active infection.\n3. Donation of blood within 60 days prior to Week 0 of Part 2.\n4. Use of any investigational product other than KK8123, or investigational medical device, within 30 days prior to Week 0 of Part 2, or requirement for any investigational agent prior to completion of all scheduled study assessments.\n5. Use of any therapeutic mAb other than KK8123 within 90 days prior to Week 0 of Part 2.\n6. Use of pharmacologically active vitamin D, its metabolites or analogs, oral phosphate for treatment of XLH, aluminum hydroxide antacids, acetazolamide, thiazide diuretics, and\u002For systemic corticosteroids within 14 days prior to Week 0 of Part 2.\n7. Use of medication to suppress PTH (e.g., calcimimetics) within 2 months prior to Week 0 of Part 2.\n8. Use of oral bisphosphonates following completion of Part 1 of the study.\n9. Use of teriparatide or abaloparatide in the 2 months prior to Week 0 of Part 2.\n10. Planned or recommended orthopedic surgery during the study.\n11. History of traumatic fracture or orthopedic surgery within 6 months prior to Week 0 of Part 2.\n12. Participants who are lactating.\n13. Current active and symptomatic COVID-19 infection, or a history of suffering any long-term sequalae from COVID-19 infection.\n14. Presence or history of any condition that, in the view of the investigator, places the participant at high risk of poor treatment compliance or of not completing the study.","ALL","18 Years","65 Years",{"count":20,"type":21},24,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","A first-in-human study of KK8123 in adults with X-linked hypophosphatemia.",[28],"X-linked Hypophosphatemia",[30,31,32,33,34,35,36,37,38],"Gene Mutation","Bone Disease","Metabolic Disease","Musculoskeletal Disease,","Rare Disease","Hypophosphatemia","Familial Renal Tubular Transport","Inborn Errors","Kidney Diseases","RECRUITING","2025-11-12",{"date":42,"type":43},"2025-11-14","ACTUAL",{"date":45,"type":43},"2024-10-09",{"date":47,"type":21},"2028-05-10",{"name":49,"class":50},"Kyowa Kirin Co., Ltd.","INDUSTRY",9,{"id":53,"slug":54,"hasResults":11,"nctId":55,"briefTitle":56,"officialTitle":57,"acronym":58,"eligibilityCriteria":59,"healthyVolunteers":11,"sex":16,"minAge":60,"maxAge":4,"enrollmentInfo":61,"targetDuration":4,"studyType":22,"phases":63,"briefSummary":65,"conditions":66,"keywords":68,"overallStatus":73,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":84},"100586925","phosphorus-31-spectroscopy-in-phosphate-diabetes-100586925","NCT06921720","Phosphorus-31 Spectroscopy in Phosphate Diabetes","ATP (Adenosine Triphosphate) Concentration Measurement by Phosphorus-31 Spectroscopy in Phosphate Diabetes","Phos-ATP","Inclusion Criteria:\n\n* Inclusion Criteria for Patients:\n* Patient ≥ 10 years old with phosphate diabetes, i.e., genetically confirmed XLH or phosphate diabetes of another origin characterized by hypophosphatemia with a decreased Tm\u002FGFR.\n* Patient has given consent to participate in the study.\n* Signed consent (by both legal representatives for minor patients).\n* Patient regularly followed up within the pediatric nephrology services at the Femme Mère Enfant hospital and the nephrology-functional exploration services at the Edouard Herriot hospital.\n\nInclusion Criteria for Pediatric Controls:\n\n* Patient aged 10 to 17 years, without chronic kidney disease, without hypophosphatemia, without muscular abnormalities, and without growth disorders.\n* Patient has given consent to participate in the study.\n* Signed consent (by both legal representatives for minor patients).\n* Patient regularly followed up within the pediatric nephrology services at the Femme Mère Enfant hospital.\n\nInclusion Criteria for Adult Controls:\n\n* Patient without chronic kidney disease, without hypophosphatemia, without muscular abnormalities, and without malnutrition.\n* Patient has given consent to participate in the study.\n* Signed consent.\n* Patient regularly followed up within the renal functional exploration services at the Edouard Herriot hospital.\n\nExclusion Criteria:\n\n* Pregnant, parturient, or breastfeeding women\n* Individuals deprived of liberty by a judicial or administrative decision\n* Individuals receiving psychiatric care\n* Individuals admitted to a healthcare or social institution for purposes other than research\n* Adults under legal protection (guardianship, curators)\n* Individuals not affiliated with a social security system or benefiting from a similar scheme\n* Subjects participating in another interventional study with an exclusion period still in effect at pre-inclusion\n* General contraindications for MRI: wearing a pacemaker\u002FICD (implantable cardiac device) or mechanical heart valves not MRI-compatible, presence of non-MRI-compatible equipment, presence of metallic objects.","10 Years",{"count":62,"type":21},65,[64],"NA","Phosphate diabetes is defined by urinary phosphate wasting due to impaired tubular reabsorption. It can be classified based on either a genetic or acquired origin. Chronic hypophosphatemia causes rickets in children, leading to growth disorders, bone deformities, and bone pain. In adults, it results in osteomalacia, pseudofractures, as well as muscle fatigue and weakness during exertion.\n\nX-linked hypophosphatemia (XLH) is a common cause of hereditary rickets linked to renal phosphate loss due to elevated FGF23 levels, most often caused by mutations in the PHEX (Phosphate Regulating Endopeptidase X-Linked) gene. Clinical trials have already demonstrated significant improvements in the quality of life of patients with XLH following the approval of the anti-FGF23 antibody, Burosumab.\n\nHowever, there are other causes of phosphate diabetes, such as tumor-induced osteomalacia (TIO), proximal tubulopathies (Dent disease, cystinosis), or mutations in Npt2a\u002FC.\n\nAs described above, patients with phosphate diabetes report bone pain and variable muscle fatigue depending on the underlying cause. These symptoms can significantly impact quality of life by limiting physical activities early on. However, standard quality-of-life questionnaires often lack the specificity to accurately assess these symptom-related impairments. At present, the investigators lack objective biomarkers that can quantitatively assess subclinical metabolic abnormalities at the muscular level in these patients.\n\nVarious data from animal models and preclinical studies suggest direct links between serum phosphate levels, intracellular phosphate (Pi), ATP production, and altered muscle metabolism. Muscle tissue requires energy, primarily derived from ATP hydrolysis. ATP is synthesized via mitochondrial oxidative phosphorylation, which is regulated by intracellular phosphate levels.\n\nIn five XLH patients, older studies compared intracellular Pi levels to those of five healthy controls and showed a decrease in Pi without a change in intracellular ATP. Smith et al. found ATP concentrations within the lower limit of normal at rest, while Pesta et al. reported a decrease in muscle ATP concentration in hypophosphatemic mice, which normalized after correcting serum phosphate levels.\n\nTwo recent studies using 31-phosphorus magnetic resonance spectroscopy (31P-MRS) showed no change in intracellular ATP levels in XLH patients, both before muscle activity and after burosumab treatment. However, these studies were conducted at rest. Yet, the main issue for patients lies in physical activity, as quality-of-life impairments often begin with limitations in daily physical tasks. Moreover, no current data are available on intracellular Pi or ATP levels in other forms of phosphate diabetes.\n\nThese parameters can be measured in vivo, non-invasively, using 31P-MRS. This technique employs a standard 3T MRI scanner equipped with a multinuclear coil to detect phosphorus instead of protons. It allows for ATP, Pi, and phosphocreatine concentrations to be measured every 2 minutes and 45 seconds. The procedure is non-irradiating, requires no contrast injection, and focuses on the patient's leg, meaning the whole body does not need to be inside the MRI scanner.\n\nAdditionally, in FGF23-mediated phosphate diabetes, calcitriol suppression leads to renin-angiotensin-aldosterone system (RAAS) activation and hypertension. In contrast, proximal tubulopathies cause salt wasting. The third sodium compartment (non-osmotically active sodium stored in subcutaneous and muscle tissue) can be assessed non-invasively using 23Na-MRI (sodium-23 MRI), which also uses a 3T (3 tesla) MRI scanner and a multinuclear coil to detect sodium signals under the same conditions as 31P-MRS.\n\nPatients with XLH also exhibit a distinct metabolic profile, with an increased risk of obesity, hypertension, left ventricular hypertrophy, and elevated uric acid levels.\n\nThe goal of the study is to quantitatively measure intramuscular ATP, intracellular phosphate (Pi), intracellular pH, and phosphocreatine both before and during exercise in patients with phosphate diabetes. The study also aims to characterize the mitochondrial and metabolic profile of these patients and assess the non-osmotically active third sodium compartment in these disorders.",[67,28],"Phosphate Diabetes",[35,69,70,71,72],"XLH","phosphate diabetes","muscle","31P-MRS","NOT_YET_RECRUITING","2025-04-10",{"date":76,"type":43},"2025-04-13",{"date":78,"type":21},"2025-05-01",{"date":80,"type":21},"2027-05-01",{"name":82,"class":83},"Hospices Civils de Lyon","OTHER",2,{"id":86,"slug":87,"hasResults":11,"nctId":88,"briefTitle":89,"officialTitle":4,"acronym":4,"eligibilityCriteria":90,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":91,"phases":4,"briefSummary":92,"conditions":93,"keywords":95,"overallStatus":99,"whyStopped":4,"lastUpdateSubmitDate":100,"lastUpdatePostDateStruct":101,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":103,"locationsCount":4},"100345245","expanded-access-to-burosumab-100345245","NCT03775187","Expanded Access to Burosumab","Inclusion Criteria:\n\n\\-\n\nExclusion Criteria:\n\n\\-","EXPANDED_ACCESS","Individual patient expanded access requests may be considered for patients who have no other treatment options",[28,94],"Tumor-Induced Osteomalacia",[96,97,69,98],"Expanded Access","Compassionate Use","TIO","AVAILABLE","2025-02-28",{"date":102,"type":43},"2025-03-05",{"name":49,"class":50},{"id":105,"slug":106,"hasResults":11,"nctId":107,"briefTitle":108,"officialTitle":109,"acronym":4,"eligibilityCriteria":110,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":111,"targetDuration":60,"studyType":113,"phases":4,"briefSummary":114,"conditions":115,"keywords":117,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":123,"lastUpdatePostDateStruct":124,"startDateStruct":126,"completionDateStruct":128,"leadSponsor":130,"locationsCount":132},"100300623","registry-for-patients-with-x-linked-hypophosphatemia-100300623","NCT03193476","Registry for Patients With X-Linked Hypophosphatemia","An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH)","A patient must meet the following criteria at the enrolment visit (baseline) to be eligible for inclusion into this XLH Registry\n\nInclusion Criteria:\n\n1. Patients aged from ≥0 years of age at baseline\n2. In the opinion of the treating physician the patient has a clinical presentation, radiological, biochemical or genetic investigation results that support diagnosis of XLH\n3. Patient is not currently participating in an interventional clinical trial\n\nA patient who meets any of the following criteria at the enrolment visit (baseline) will be excluded from this XLH Registry\n\nExclusion Criteria:\n\n1. Patient or their legally designated representative does not have the cognitive capacity to provide informed consent.\n2. Patient is currently participating in an interventional clinical trial. Patients will be approached for inclusion into the registry once their involvement in the trial ends (including the completion of all trial follow up assessments).\n3. Participation in a Compassionate Use Program, Pre-commercial Program (i.e. Named Patient Sales, Nominative ATU) or Investigator Initiated Study does not preclude a patient from participation in this XLH Registry",{"count":112,"type":21},1343,"OBSERVATIONAL","This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH). The main objective of this XLH Registry is to collect data to characterise the treatment, progression and long-term outcomes of XLH in both adult and paediatric settings.",[116],"X-Linked Hypophosphatemia",[118,119,120,121,122],"Crysvita","Burosumab","X-linked Hypophosphatemia (XLH)","PHEX Gene Mutation","XLH Registry","2024-09-04",{"date":125,"type":43},"2024-09-19",{"date":127,"type":43},"2017-09-12",{"date":129,"type":21},"2029-07-01",{"name":131,"class":50},"Kyowa Kirin Pharmaceutical Development Ltd",118]