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| Name | Class |
|---|---|
| National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) | NIH |
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Children and adults with XLH recruited will be treated with calcitriol alone (without phosphate supplementation) for one year, during which the calcitriol dose will be escalated during the first 3 months of therapy. The investigators hypothesize that treatment of adults and children with XLH alone will improve serum phosphate levels and skeletal mineralization without causing an increase in kidney calcifications. The study will also examine if calcitriol therapy will improve growth in children.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Adults with XLH | Experimental | Adults with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year |
|
| Children with XLH | Experimental | Children (age 3-17) with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Calcitriol | Drug | Adults and children (age 3-17) with X-linked hypophosphatemia will be treated with calcitriol therapy without phosphate supplementation. Doses of calcitriol will be escalated and optimized in the first three months of the study. Calcitriol is an oral medication taken once a day. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Serum Phosphate in Adults and Children With XLH Between Baseline and 12 Months | serum phosphate | baseline and 12 months |
| Change From Baseline in TmP/GFR in Adults and Children With XLH | a measure of kidney resorption of phosphate | baseline and 12 months |
| Rickets Score for Children With XLH | a score of rickets severity determined by reading x-rays of wrists and knees (10 point Thacher score with 0 being normal and 10 being severe) | baseline and 12 months |
| Change From Baseline in Nephrocalcinosis Grade | determine if there is change in amount of calcifications in the kidneys: graded from grade 0 (normal) to grade IV (stone formation, solitary focus of echos at the tip of the renal pyramid) | baseline and 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| Growth in Children With XLH | Z-score of growth (this is full name of variable)- number represents standard deviation above or below the known mean of the general population at the corresponding age. Z score that is positive is above the mean, negative is below the mean. | baseline and 12 months |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Eva Liu, MD | Massachusetts General Hospital and Brigham and Women's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 26751835 | Background | Liu ES, Martins JS, Raimann A, Chae BT, Brooks DJ, Jorgetti V, Bouxsein ML, Demay MB. 1,25-Dihydroxyvitamin D Alone Improves Skeletal Growth, Microarchitecture, and Strength in a Murine Model of XLH, Despite Enhanced FGF23 Expression. J Bone Miner Res. 2016 May;31(5):929-39. doi: 10.1002/jbmr.2783. Epub 2016 Feb 2. |
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6 children with XLH were enrolled - Due to COVID and approval of burosumab, difficult to recruit children with XLH into trial
10 adults with XLH were enrolled
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| ID | Title | Description |
|---|---|---|
| FG000 | Adults With XLH | Adults with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year |
| FG001 | Children With XLH | Children (age 3-17) with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year |
| Title | Milestones | Reasons Not Completed | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Adults With XLH | Adults with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year |
| BG001 | Children With XLH |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Change in Serum Phosphate in Adults and Children With XLH Between Baseline and 12 Months | serum phosphate | Posted | Mean | Standard Deviation | mg/dl | baseline and 12 months |
|
from enrollment visit through 12 months
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Adults With XLH | Adults with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Tooth abscess | Musculoskeletal and connective tissue disorders | Non-systematic Assessment |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| bubble in gums that looks like tooth abscess but did not require treatment | Musculoskeletal and connective tissue disorders | Non-systematic Assessment |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Eva Liu | Mass General Brigham | 6175255412 | esliu@bwh.harvard.edu |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Oct 24, 2025 | Mar 20, 2026 | Prot_SAP_000.pdf |
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| ID | Term |
|---|---|
| D053098 | Familial Hypophosphatemic Rickets |
| D063730 | Rickets, Hypophosphatemic |
| D012279 | Rickets |
| D001847 | Bone Diseases |
| ID | Term |
|---|---|
| D001851 | Bone Diseases, Metabolic |
| D009140 | Musculoskeletal Diseases |
| D007015 | Hypophosphatemia, Familial |
| D015499 | Renal Tubular Transport, Inborn Errors |
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| ID | Term |
|---|---|
| D002117 | Calcitriol |
| C097949 | 1,25-dihydroxyvitamin D |
| ID | Term |
|---|---|
| D004100 | Dihydroxycholecalciferols |
| D006887 | Hydroxycholecalciferols |
| D002762 | Cholecalciferol |
| D002782 | Cholestenes |
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Adults or children (age 3-17) with X-linked hypophosphatemia (XLH) will be enrolled the study. All research subjects will be treated with optimized doses of calcitriol alone (without phosphate supplementation) for one year.
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|
|
Children (age 3-17) with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year
| BG002 | Total | Total of all reporting groups |
| years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Units | Counts |
|---|---|
| Participants |
|
|
|
| Primary | Change From Baseline in TmP/GFR in Adults and Children With XLH | a measure of kidney resorption of phosphate | Posted | Mean | Standard Deviation | percent | baseline and 12 months |
|
|
|
|
| Primary | Rickets Score for Children With XLH | a score of rickets severity determined by reading x-rays of wrists and knees (10 point Thacher score with 0 being normal and 10 being severe) | Posted | Mean | Standard Deviation | rickets score | baseline and 12 months |
|
|
|
|
| Primary | Change From Baseline in Nephrocalcinosis Grade | determine if there is change in amount of calcifications in the kidneys: graded from grade 0 (normal) to grade IV (stone formation, solitary focus of echos at the tip of the renal pyramid) | Posted | Mean | Standard Deviation | nephrocalcinosis score | baseline and 12 months |
|
|
|
|
| Secondary | Growth in Children With XLH | Z-score of growth (this is full name of variable)- number represents standard deviation above or below the known mean of the general population at the corresponding age. Z score that is positive is above the mean, negative is below the mean. | Posted | Mean | Standard Deviation | z score | baseline and 12 months |
|
|
|
|
| 0 |
| 10 |
| 0 |
| 10 |
| 2 |
| 10 |
| EG001 | Children With XLH | Children (age 3-17) with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year | 0 | 6 | 1 | 6 | 5 | 6 |
|
| gingival inflammation | Musculoskeletal and connective tissue disorders | Non-systematic Assessment |
|
| Constipation | Gastrointestinal disorders | Non-systematic Assessment |
|
| elevated LFTs | Musculoskeletal and connective tissue disorders | Non-systematic Assessment |
|
| strep pharyngitis | Infections and infestations | Non-systematic Assessment |
|
| fatigue | General disorders | Non-systematic Assessment |
|
| stable fibrous cortical defect in right femur | Musculoskeletal and connective tissue disorders | Non-systematic Assessment |
|
| Hypercalciuria | Renal and urinary disorders | Non-systematic Assessment |
|
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| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D008664 | Metal Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D002128 | Calcium Metabolism Disorders |
| D017674 | Hypophosphatemia |
| D010760 | Phosphorus Metabolism Disorders |
| D014808 | Vitamin D Deficiency |
| D001361 | Avitaminosis |
| D003677 | Deficiency Diseases |
| D044342 | Malnutrition |
| D009748 | Nutrition Disorders |
| D002776 |
| Cholestanes |
| D013256 | Steroids |
| D000072473 | Fused-Ring Compounds |
| D011083 | Polycyclic Compounds |
| D013261 | Sterols |
| D014807 | Vitamin D |
| D012632 | Secosteroids |
| D008563 | Membrane Lipids |
| D008055 | Lipids |
| Other |
| Other |