Clinical trial NCT02016235: Role Of Phosphorus And FGF 23 In Patients With Dent Disease
Official title: Role Of Phosphorus And FGF 23 In Patients With Dent Disease
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
PHASE2
Conditions: Dent Disease
Keywords: Dent
Dents
Dent Disease
Phosphorus Supplements
FGF 23
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
First posted: 2013-12-19
Enrollment: 30
Sex: MALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: Patients with Dent disease have suppressed levels of FGF 23 which contributes to hypercalciuria, kidney stones, nephrocalcinosis and renal failure. Supplementation with phosphorus may reduce hypercalciuria.


Eligibility criteria: Inclusion Criteria:

Patients will be recruited from those in the RKSC Dent Registry

1. Diagnostic criteria for Dent disease Observational arm include:

   1. \<18 years old
   2. LMWP (at least 5 times above the upper limit of normal) and at least 1 of the following criteria: 1. Hypercalciuria, 2. Kidney stones, 3. Nephrocalcinosis, 4. Hypophosphatemia, 5. Renal phosphate leak, 6. Aminoaciduria, 7. Glucosuria without diabetes mellitus, 8. Hematuria, 9. Renal insufficiency, 10. Family history with x-linked inheritance or
   3. 1 of the above criteria (1-9) and confirmed genetic mutation of CLCN5 or OCRL1.
2. Diagnostic criteria for Dent disease Intervention arm include:

   1. \>18 years old
   2. LMWP (at least 5 times above the upper limit of normal) and at least 1 of the following criteria: 1. Hypercalciuria, 2. Kidney stones, 3. Nephrocalcinosis, 4. Hypophosphatemia, 5. Renal phosphate leak, 6. Aminoaciduria, 7. Glucosuria without diabetes mellitus, 8. Hematuria, 9. Renal insufficiency, 10. Family history with x-linked inheritance or
   3. 1 of the above criteria (1-9) and confirmed genetic mutation of CLCN5 or OCRL1.
3. Idiopathic calcium nephrolithiasis with renal phosphate leak

   1. Male patients \> 18 years old
   2. History of symptomatic calcium oxalate or calcium phosphate stone, hypercalciuria (\>250 mg/24 hrs), renal phosphate leak (TMP/GFR \<2.07 mg/dl)
4. Idiopathic calcium nephrolithiasis without renal phosphate leak

   1. Male patients \> 18 years old
   2. History of symptomatic calcium oxalate or calcium phosphate stone, hypercalciuria (\>250 mg/24 hrs), renal phosphate leak (TMP/GFR \<2.07 mg/dl)

Exclusion Criteria:

1. Exclusion for Dent disease include: primary or secondary hyperparathyroidism, hyperthyroidism, chronic diarrhea states; intake of thiazide diuretics, glucocorticoids, or estrogens within one month of the study.
2. Exclusion criteria for calcium stone formers include: primary or secondary hyperparathyroidism, hyperthyroidism, estimated GFR \<40 ml/mn/1.73m2, chronic diarrhea states; intake of thiazide diuretics, glucocorticoids, or estrogens within one month of the study.
3. Exclusion criteria include history of symptomatic or asymptomatic kidney stone disease; primary or secondary hyperparathyroidism; estimated GFR \<40 ml/min/1.73m2, chronic diarrhea states; intake of thiazide diuretics, glucocorticoids, or estrogens within one month of the study.

Primary outcomes:
measure: Change in Urine Total Protein
timeFrame: baseline, day 7
Secondary outcomes:
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
Study officials:
affiliation: Mayo Clinic
name: John C Lieske, M.D.
role: PRINCIPAL_INVESTIGATOR
References: