Resistance to Vitamin D or Parathyroid Hormone

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by National Institutes of Health Clinical Center (CC)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: June 13, 2014
Last verified: May 2014

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.


Study Type: Observational
Official Title: Studies of States With Resistance to Vitamin D and Parathyroid Hormone

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 99999999
Study Start Date: September 1989
Detailed 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, pseudohypoparathyroisim. 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.


Ages Eligible for Study:   1 Year and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001242

Contact: Lee S Weinstein, M.D. (301) 402-2923

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Principal Investigator: Lee S Weinstein, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  More Information

Additional Information:
Publications: Identifier: NCT00001242     History of Changes
Other Study ID Numbers: 890173, 89-DK-0173
Study First Received: November 3, 1999
Last Updated: June 13, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Vitamin D
Cyclic AMP

Additional relevant MeSH terms:
Bone Diseases
Bone Diseases, Metabolic
Calcium Metabolism Disorders
Deficiency Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Musculoskeletal Diseases
Nutrition Disorders
Vitamin D Deficiency
Water-Electrolyte Imbalance
Vitamin D
Bone Density Conservation Agents
Growth Substances
Pharmacologic Actions
Physiological Effects of Drugs processed this record on October 22, 2014