Last updated on November 2019

Resistance to Vitamin D or Parathyroid Hormone


Brief description of study

Patients with confirmed or suspected conditions with a resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis and treatment, and inclusion in other studies pertaining to similar conditions.

This study will provide information about problems relating to calcium in the blood, urine, and bones. Patients in this study will undergo a general evaluation / check-up to give researchers an idea of each person's condition or disease. Patients will receive treatment based on their diagnosis and asked to provide specimen samples for further research studies.

Detailed Study Description

Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis and treatment and for inclusion in other protocols. These states include hypocalcemia, rickets, osteomalacia, pseudohypoparathyroidism. Resistance to a factor is manifested by deficient bioeffect despite high levels of the factor in blood. Patients will be tested with multiple indices of mineral metabolism to establish the diagnosis and examine the spectrum of the underlying disorder. The principal therapies will be combinations of calcium, phosphate, and a vitamin D analog. Selected patients will have localization and surgery to remove a tumor that causes renal wasting of phosphate. Patients will be considered for entry into other research protocols.

Clinical Study Identifier: NCT00001242

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