CLARIFY: ADH1 And ADH2 Disease Monitoring Study (DMS)

Overview

About this study

The purpose iof this study is to determine the biochemical manifestations and progression of Autosomal Dominant Hypocalcemia Types 1 and 2 Disease (ADH1/2) over time.

 

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

  • Participants from birth to age 90 years must meet all the following criteria for inclusion during screening:
    • Have a documented activating variant of the CASR gene for ADH1 or documented activating variant of the GNA11 gene for ADH2 associated with a clinical syndrome of hypoparathyroidism prior to enrollment
      • Note: Acceptable documentation includes CASR or GNA11 genetic analysis report. If no prior documented CASR or GNA11 gene variant, potential participants can undergo CASR and GNA11 gene variant analysis at Screening.
    • Be willing and able to provide informed consent or assent after the nature of the study has been explained, and prior to any research-related procedures.
    • Be willing to provide access to prior medical records including imaging, biochemical, and diagnostic and medical history data, if available.
    • Be willing and able to comply with the study visit schedule and study procedures.

Eligibility last updated 11/17/21. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Robert Wermers, M.D.

Closed for enrollment

Contact information:

Department of Medicine (DOM) Research Hub

(507) 266-1944

DOMRESEARCHHUB@mayo.edu

More information

Publications

Publications are currently not available