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Resistance to Vitamin D or Parathyroid Hormone



Resistance to Vitamin D or Parathyroid Hormone

For Condition: Hypocalcemia,Osteomalacia,Pseudohypoparathyroidism,Pseudopseudohypoparathyroidism,Rickets
Status: Recruiting
Sponsor(s): National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ,
Synopsis: 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.
Details: 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 also undergo research tests which may include skin biopsy or apheresis and will be considered for entry into other protocols.
Eligibility:
Study Type:
  Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA Patients of any age or sex with vitamin D resistance, rickets, osteomalacia, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, or suspicion of these or related disorders based upon the appropriateness of their problem to ongoing investigations. Current investigations are focused primarily upon subjects with target tissue resistance to 1,25-dihydroxyvitamin D, pseudohypoparathyroidism, and pseudo-pseudohypoparathyroidism.
Total Enrollment: 9999

Location and Contact Information:

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) *Recruiting*
Bethesda,  Maryland,  20892
United States
Recruiting Patient  and Public Liaison Office 1-800-411-1222


Additional Information:
Study ID Numbers:
  890173;  89-DK-0173
Study Start Date: September 29, 1989
Record last reviewed: August 11, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001242

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