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Protocol Details

Studies of States with Resistance to Vitamin D and Parathyroid Hormone

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

89-DK-0173

Sponsoring Institute

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

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 mo
Max Age: 100

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Rickets;
Hypocalcemia;
Albright Hereditary Osteodystrophy;
Pseudohypoaldosteronism

Recruitment Keyword(s)

None

Condition(s)

Hypocalcemia;
Pseudohypoparathyroidism;
Osteomalacia;
Rickets;
Pseudopseudohpoparathyroidism

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Diabetes and Digestive and Kidney Diseases

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.

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Eligibility

INCLUSION CRITERIA:

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.

Current investigations are focused principally upon the inclusion of subjects with, or suspected of having, hypocalcemia likely due to a resistance to parathyroid hormone, including subjects who have a diagnosis, or likely diagnosis, of pseudohypoparathyroidism or pseudopseudohypoparathyroidism.


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Citations:

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.

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.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Lee S. Weinstein, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
BG 10 RM 8C101
10 CENTER DR
BETHESDA MD 20814
(301) 402-2923
leew@mail.nih.gov

Craig S. Cochran, R.N.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Building 5
Room 1604
5 Center Drive
Bethesda, Maryland 20892
(301) 402-1880
craigc@bdg10.niddk.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001242

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