Studies of States With Resistance to Vitamin D and Parathyroid Hormone

NCT00001242 | Completed

• 2 other identifiers: 89017389-DK-0173
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 1

Brief Summary

Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis, treatment review with suggestions for modifications to the current or new 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 be considered for entry into other research protocols.

Conditions

Hypocalcemia; Pseudohypoparathyroidism; Osteomalacia; Rickets; Pseudopseudohpoparathyroidism

Keywords

Rickets; Hypocalcemia; Albright Hereditary Osteodystrophy; Pseudohypoaldosteronism; Natural History

Outcome Measures

Primary Outcomes (1)

• This study will provide information about problems relating to calcium in the blood, urine, and bones

  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.

  take one to two weeks

Study Arms (1)

Study Cohort

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

Eligibility Criteria

• Age: 2 Months - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH)

You may qualify if:

• Patients, from 2 months to 100 years of age, of either sex M or F, 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.

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• Marx SJ, Swart EG Jr, Hamstra AJ, DeLuca HF. Normal intrauterine development of the fetus of a woman receiving extraordinarily high doses of 1,25-dihydroxyvitamin D3. J Clin Endocrinol Metab. 1980 Nov;51(5):1138-42. doi: 10.1210/jcem-51-5-1138.

  PMID: 6893458 BACKGROUND

• Nemeth AJ, Eaglstein WH, Falanga V, Hevia O, Taylor JR. Methods to speed healing after skin biopsy or trichloroacetic acid chemical peel. Prog Clin Biol Res. 1991;365:267-77. No abstract available.

  PMID: 1862138 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Hypocalcemia; Pseudohypoparathyroidism; Osteomalacia; Rickets; Pseudohypoaldosteronism

Condition Hierarchy (Ancestors)

Calcium Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Water-Electrolyte Imbalance; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Vitamin D Deficiency; Avitaminosis; Deficiency Diseases; Malnutrition; Nutrition Disorders; Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases

Study Officials

• Lee S Weinstein, M.D.

  National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: August 12, 1997
• Primary Completion: December 12, 2022
• Study Completion: December 12, 2022
• Last Updated: January 20, 2023

Record last verified: 2023-01

Locations

US (1)