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Resistance to Vitamin D or Parathyroid Hormone

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00001242
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : March 17, 2020
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) )

Brief Summary:

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.


Condition or disease
Hypocalcemia Pseudohypoparathyroidism Osteomalacia Rickets Pseudopseudohpoparathyroidism

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, 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.

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Study Type : Observational
Estimated Enrollment : 99999999 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Studies of States With Resistance to Vitamin D and Parathyroid Hormone
Actual Study Start Date : August 12, 1997


Group/Cohort
Study Cohort
Patients of any age or sex with vitamin D resistance, rickets, osteomalacia, pseudohypoparathyroidism, pseudo- pseudohypoparathyroidism, or suspicion of these or related disorders



Primary Outcome Measures :
  1. This study will provide information about problems relating to calcium in the blood, urine, and bones [ Time Frame: take one to two weeks ]
    This is a natural history protocol, directed at diagnosing and managing the general clinical features in these patients. In addition the full clinical expression of certain rare disorders (target resistance to 1,25(OH)2D, pseudohypoparathyroidism, and pseudo- pseudohypoparathyroidism) will be characterized further. Some of these patients or their relatives will be entered into additional protocols, where appropriate for example, protocols to characterize the molecular causes of these disorders.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH)
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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001242


Contacts
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Contact: Lee S Weinstein, M.D. (301) 402-2923 leew@mail.nih.gov

Locations
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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 Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Investigators
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Principal Investigator: Lee S Weinstein, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Additional Information:
Publications:
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Responsible Party: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
ClinicalTrials.gov Identifier: NCT00001242    
Other Study ID Numbers: 890173
89-DK-0173
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: March 17, 2020
Last Verified: October 23, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ):
Rickets
Hypocalcemia
Albright Hereditary Osteodystrophy
Pseudohypoaldosteronism
Additional relevant MeSH terms:
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Rickets
Osteomalacia
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Hypocalcemia
Calcium Metabolism Disorders
Metabolic Diseases
Water-Electrolyte Imbalance
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Vitamin D Deficiency
Avitaminosis
Deficiency Diseases
Malnutrition
Nutrition Disorders
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Vitamin D
Ergocalciferols
Vitamins
Parathyroid Hormone
Hormones
Micronutrients
Nutrients
Growth Substances
Physiological Effects of Drugs
Bone Density Conservation Agents
Calcium-Regulating Hormones and Agents