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24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

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ClinicalTrials.gov Identifier: NCT03478761
Recruitment Status : Recruiting
First Posted : March 27, 2018
Last Update Posted : March 27, 2018
Sponsor:
Information provided by (Responsible Party):
David J. Sas, Mayo Clinic

Brief Summary:
You are being asked to take part in this research registry because you or your family member is suspected to have a 24-hydroxylase deficiency.

Condition or disease
24-hydroxylase Deficiency

Detailed Description:
In this registry we propose to establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency in an effort to collect data for further investigation. This would be the first and only known registry of its kind. These resources would be made widely available to clinicians and research scientists within Mayo to stimulate advances in the diagnosis and treatment of patients with this disease.

Study Type : Observational [Patient Registry]
Estimated Enrollment : 600 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 1 Year
Official Title: 24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
Actual Study Start Date : October 19, 2017
Estimated Primary Completion Date : December 30, 2020
Estimated Study Completion Date : December 30, 2021



Primary Outcome Measures :
  1. establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency [ Time Frame: yearly ]
    This patient registry will expand knowledge of the clinical expression of this disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date.


Secondary Outcome Measures :
  1. Improved understanding of symptoms and progression of this disease [ Time Frame: yearly ]
    The goal of the patient registry is to collect data about this rare diseases, provide a better understanding of this conditions and help to develop new treatments.


Biospecimen Retention:   Samples Without DNA
24,25 Vitamin D testing


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
24-hydroxylase deficiency and CYP24A1 mutation patient
Criteria

Inclusion Criteria:

Patients who have undergone genetic testing for a CYP24A1 mutation with at least 3 of the following:

  • Urinary Stone Disease
  • Nephrocalcinosis
  • Metabolic Bone Disease
  • Serum Calcium >/= 9.6 mg/dL
  • Parathyroid hormone (PTH) < 30 pg/mL
  • 1,25-dihydroxyvitamin D > 40 pg/mL OR a family member of a patient who meets the above criteria

Exclusion Criteria:

Patients who have tested negative for a CYP24A1 mutation with an alternative diagnosis that might explain hypercalcemia/hypercalciuria/stone disease:

  • Sarcoidosis
  • Lymphoma
  • Tuberculosis
  • Fungal infections
  • Excessive exogenous calcium or vitamin D intake

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03478761


Contacts
Contact: Barb M Seide, CCRP 507-255-0387 seide.barbara@mayo.edu
Contact: Rare Kidney Stone Consortium 800-270-4637 RareKidneyStones@mayo.edu

Locations
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Barbara M Seide, CCRP    800-270-4637    rarekidneystones@mayo.edu   
Contact: Carly Banks, CCRP    800-270-4637    rarekidneystones@mayo.edu   
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: David Sas, MD Mayo Clinic
Study Director: Peter Tebben, MD Mayo Clinic

Responsible Party: David J. Sas, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT03478761     History of Changes
Other Study ID Numbers: 17-003972
First Posted: March 27, 2018    Key Record Dates
Last Update Posted: March 27, 2018
Last Verified: March 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by David J. Sas, Mayo Clinic:
CYP24A1 mutation
CYP24A1
24-hydroxylase deficiency