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Currently, large oral doses of phosphate and 1,25(OH)2D (calcitriol) are the standard treatment of patients with familial hypophosphatemic rickets (XLH). While this therapy is effective in healing the rickets, it is often limited by development of complications due to the high dose of medications required to achieve cure. Among them are the development of calcifications in the kidneys and secondary hyperparathyroidism (HPT) which in some patients may cause complications like high blood calcium level, high blood pressure and damage to the kidney. A drug to treat secondary hyperparathyroidism was just developed. In a short term study we found that it might help the treatment of XLH, by allowing the use of lower doses of the both phosphate and calcitriol. In the present study we will learn if indeed the addition of this new medicine (Cinacalcet) to the long-term treatment will allow the use of lower doses of both phosphate and calcitriol and consequently lower the risk of complications.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cinacalcet | Experimental | Stable patients with XLH already treated with Phosphate and calcitriol will add Cinacalcet to their treatment regimen. Sequential monitoring of blood and urine biochemical variables will follow, based on which adjustments to the doses of the 3 medications will be done. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Cinacalcet | Drug | Stable patients with XLH already treated with Phosphate and calcitriol will add Cinacalcet to their treatment regimen. Sequential monitoring of blood nand urine biochemical variables will follow, based on which adjustments to the doses of the 3 medications will be done. |
| Measure | Description | Time Frame |
|---|---|---|
| doses of phosphate and calcitriol required to sustain goals of blood and urine chemistries | 9 months |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Mercy Hospital | Kansas City | Missouri | 64108 | United States |
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| ID | Term |
|---|---|
| D053098 | Familial Hypophosphatemic Rickets |
| D006961 | Hyperparathyroidism |
| ID | Term |
|---|---|
| D063730 | Rickets, Hypophosphatemic |
| D012279 | Rickets |
| D001851 | Bone Diseases, Metabolic |
| D001847 | Bone Diseases |
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| ID | Term |
|---|---|
| D000069449 | Cinacalcet |
| ID | Term |
|---|---|
| D009281 | Naphthalenes |
| D011084 | Polycyclic Aromatic Hydrocarbons |
| D006841 | Hydrocarbons, Aromatic |
| D006844 | Hydrocarbons, Cyclic |
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|
|
| D009140 |
| Musculoskeletal Diseases |
| D007015 | Hypophosphatemia, Familial |
| D015499 | Renal Tubular Transport, Inborn Errors |
| 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 |
| D010279 | Parathyroid Diseases |
| D004700 | Endocrine System Diseases |
| D006838 | Hydrocarbons |
| D009930 | Organic Chemicals |
| D011083 | Polycyclic Compounds |