Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| 76-DK-0081 | Other Identifier | 76-DK-0081 |
Not provided
Not provided
Not provided
Terminated because of lack of drug supply
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Vitamin D in the diet undergoes changes in the liver and kidneys to several forms. Patients suffering from disorders with Vitamin D resistance are unable to absorb calcium from food. Patients diagnosed with these disorders will be evaluated and treated with high doses of another form of Vitamin D (1,25-dihydroxyvitamin D3). Patients will be monitored and observed throughout the study to avoid experiencing side effects from the medication.
Patients with extreme resistance to 1,25-dihydroxyvitamin D will be evaluated and treated with high doses of 1,25-dihydroxyvitamin D3.
Plan: In previously untreated patients the study will be divided into a control and one or more treatment periods. During the control period, parathyroid status will be assessed by parameters nos. 1& 2 (below). In previously treated patients maintenance vitamin D will be gradually replaced with 1,25(OH)2D3. This will be accomplished by withdrawal of vitamin D and institution of 1,25(OH)2D3 when the serum calcium shows a downward trend.
1,25(OH)2D3 as 0.25 or 0.5 ug capsules (though IND 20,889) or as a solution of I microgram per ml will be administered orally. In most cases, because of consideration of time and expense, the cooperation of the patient's local physician will be enlisted. The following will be monitored:
The dose of 1,25(OH)2D3 will be 0.125 to 50.0 ug/day. Serum calcium will not be allowed to rise above the normal range (2.0 -2.4 mM at NIH). Should hypercalcemia occur, appropriate treatment will be initiated and the drug dosage will be decreased.
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Drug treatment | Experimental | 1,25-Dihydroxycholecalciferol 5 ug orally per day for 2 years |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 1,25-Dihydroxycholecalciferol | Drug | Usual doses of 1,25-dihydroycholecalciferol are 0.25-1 ug per day. All patients in this study received very high doses or 5-20 ug per day. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of Participants With Normal Serum Calcium Concentrations | Normal calcium concentration 8.2-10.6 mg/dL | 1 year average |
Not provided
Not provided
Patients with hereditary resistance to calcitrol.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Stephen J Marx, MD | NIDDK/NIH | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 6893458 | Background | 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. | |
| 4357855 | Background | Fraser D, Kooh SW, Kind HP, Holick MF, Tanaka Y, DeLuca HF. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N Engl J Med. 1973 Oct 18;289(16):817-22. doi: 10.1056/NEJM197310182891601. No abstract available. |
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Title | Description |
|---|---|---|
| FG000 | Group 1 | Patient has rickets (child) or osteomalacia (adult) of bone |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
Not provided
Not provided
| ID | Title | Description |
|---|---|---|
| BG000 | Group 1 | Patient has rickets (cild) or osteomalacia (adult) of bone |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Number of Participants With Normal Serum Calcium Concentrations | Normal calcium concentration 8.2-10.6 mg/dL | Posted | Number | participants | 1 year average |
|
|
Not provided
Not provided
Not provided
| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Group 1 | Patient has rickets (cild) or osteomalacia (adult) of bone |
Not provided
Not provided
Not provided
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Stephen J. Marx, M.D./National Institute of Diabetes and Digestive and Kidney Diseases | NIH | 3014965051 | marxs@mail.nih.gov |
Not provided
| ID | Term |
|---|---|
| D006996 | Hypocalcemia |
| D012279 | Rickets |
| ID | Term |
|---|---|
| D002128 | Calcium Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D014883 | Water-Electrolyte Imbalance |
Not provided
Not provided
| ID | Term |
|---|---|
| D002117 | Calcitriol |
| ID | Term |
|---|---|
| D004100 | Dihydroxycholecalciferols |
| D006887 | Hydroxycholecalciferols |
| D002762 | Cholecalciferol |
| D002782 | Cholestenes |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| 233695 | Background | Marx SJ, Spiegel AM, Brown EM, Gardner DG, Downs RW Jr, Attie M, Hamstra AJ, DeLuca HF. A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. J Clin Endocrinol Metab. 1978 Dec;47(6):1303-10. doi: 10.1210/jcem-47-6-1303. |
| years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
|
| 0 |
| 6 |
| 0 |
| 6 |
Not provided
Not provided
Not provided
| D001851 | Bone Diseases, Metabolic |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D014808 | Vitamin D Deficiency |
| D001361 | Avitaminosis |
| D003677 | Deficiency Diseases |
| D044342 | Malnutrition |
| D009748 | Nutrition Disorders |
| D002776 |
| Cholestanes |
| D013256 | Steroids |
| D000072473 | Fused-Ring Compounds |
| D011083 | Polycyclic Compounds |
| D013261 | Sterols |
| D014807 | Vitamin D |
| D012632 | Secosteroids |
| D008563 | Membrane Lipids |
| D008055 | Lipids |