Trial record 2 of 3 for:    "Adenine phosphoribosyltransferase deficiency"

Biobank Protocol, Rare Diseases Clinical Research Network

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by Mayo Clinic
Sponsor:
Information provided by (Responsible Party):
Dawn S. Milliner, M.D., Mayo Clinic
ClinicalTrials.gov Identifier:
NCT02026388
First received: December 30, 2013
Last updated: December 31, 2013
Last verified: December 2013
  Purpose

This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.


Condition
Primary Hyperoxaluria
Dent Disease
APRT Deficiency
Cystinuria

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biobank Protocol, Rare Diseases Clinical Research Network

Resource links provided by NLM:


Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • Number of samples stored in tissue bank [ Time Frame: 4 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Urine, blood and tissue samples


Estimated Enrollment: 400
Study Start Date: May 2013
Estimated Study Completion Date: June 2020
Estimated Primary Completion Date: June 2020 (Final data collection date for primary outcome measure)
Groups/Cohorts
Primary Hyperoxaluria
Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.
Dent Disease
Diagnosis of Dent Disease, or a family member of someone with this diagnosis.
Cystinuria
Diagnosis of Cystinuria, or a family member of someone with this diagnosis.
APRT deficiency
Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis.

Detailed Description:

Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with a confirmed Diagnosis of Primary Hyperoxaluria, Dent Disease, APRT deficiency or Cystinuria. Family members of individuals with these four diseases.

Criteria

Inclusion Criteria:

  • Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:

    1. Liver biopsy documenting alanine-glyoxylate aminotransferase (AGT) activity below the normal reference range confirming PH type 1 OR Liver biopsy documenting glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) activity below the normal reference range confirming PH type 2
    2. Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 3
    3. Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day) in the absence of a identifiable causes of secondary hyperoxaluria, including gastrointestinal disease known to cause enteric hyperoxaluria
    4. A patient in end stage kidney failure, in whom neither a liver biopsy nor mutational analysis are available must have: (a) A plasma oxalate concentration of greater than 60 umol/L and a kidney biopsy confirming extensive oxalate deposits OR (b) Evidence of systemic oxalosis
    5. Participants in the previous protocol "Tissue Bank of Urine, Blood, and Tissue Samples Collected from the Patients with Primary Hyperoxaluria" 'Mayo IRB #' #80-04. They have already consented to bank their samples and that consent will serve to enroll them in this study.
  • Diagnosis of Dent disease meeting one or more of the following criteria:

    1. Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5)
    2. Low molecular weight proteinuria and hypercalciuria
    3. Low molecular weight proteinuria and nephrocalcinosis
  • Diagnosis of APRT disease meeting one or more of the following criteria:

    1. Suspected dihydroxyadeninuria and absent APRT enzyme activity measured in red blood cells (RBCs).
    2. Homozygosity, or compound heterozygosity, for known disease-causing APRT mutations.
    3. Passage of dihydroxyadenine stones (confirmed with stone analysis).
  • Diagnosis of Cystinuria meeting one or more of the following criteria:

    1. Stone analysis demonstrating that the stone contains cystine
    2. Increased urinary cystine excretion (>250 mg/gm creatinine)
  • Relative of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency (also known as dihydroxyadeninuria), or cystinuria

Exclusion Criteria:

  1. Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.
  2. Unwilling or unable to provide consent/assent.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02026388

Contacts
Contact: Alicia M Meek 507-255-4347 meek.alicia@mayo.edu
Contact: Barbara M Seide 507-255-0387 seide.barbara@mayo.edu

Locations
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Alicia M Meek    507-255-4347    meek.alicia@mayo.edu   
Contact: Barbara M Seide    507-255-0387    seide.barbara@mayo.edu   
Principal Investigator: Dawn S Milliner, M.D.         
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: Dawn S Milliner, M.D. Mayo Clinic
  More Information

Additional Information:
No publications provided

Responsible Party: Dawn S. Milliner, M.D., M.D., Mayo Clinic
ClinicalTrials.gov Identifier: NCT02026388     History of Changes
Other Study ID Numbers: 11-005413
Study First Received: December 30, 2013
Last Updated: December 31, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Mayo Clinic:
APRT deficiency
PH
primary hyperoxaluria
hyperoxaluria
primary oxalosis
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
Dent
Dents
Dent Disease
Dent 1
Dent 2
Cystinuria
APRT
Biobank

Additional relevant MeSH terms:
Cystinuria
Hyperoxaluria
Hyperoxaluria, Primary
Metabolism, Inborn Errors
Urolithiasis
Rare Diseases
Dent Disease
Renal Aminoacidurias
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Carbohydrate Metabolism, Inborn Errors
Disease Attributes
Pathologic Processes
Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on August 01, 2014