CLARIFY: ADH1 and ADH2 Disease Monitoring Study (DMS)
E
Erik Imel, MD
Primary Investigator
Enrolling By Invitation
90 years or below
All
Phase
N/A
60 participants needed
2 Locations
Brief description of study
A global, multi-center, Disease Monitoring Study (DMS) in participants with Autosomal
Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designedharacterize ADH1 and ADH2 disease presentation and progression through retrospective
(past) and longitudinal prospective (over time into the future) data collection.
Detailed description of study
The ADH1 and ADH2 DMS is designed to better understand the disease burden of ADH1 and ADH2,
how participants with ADH1 or ADH2 are managed with standard of care practices in aworld setting, and how standard of care treatment impacts ADH1 and ADH2 symptoms.
The study will include adult and pediatric participants with a confirmed clinical diagnosisADH1 or ADH2. Each participant's data will be collected over a period of up to 5 years. Inddition, retrospective (or past) data will be collected.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Autosomal Dominant Hypocalcemia, Riley
-
Age: 90 years or below
-
Gender: All
Inclusion Criteria:
- Have a documented activating variant or variant of uncertain significance of the CASRgene causative of ADH1 or documented activating variant or variant of uncertaingnificance of the GNA11 gene causative of ADH2 associated with a clinical syndromehypoparathyroidism prior to enrollment
- Be willing and able to provide informed consent or assent after the nature of theudy and its details have been explained, and prior to any research-relateddures
- Be willing to provide access to prior medical records including imaging, biochemical,d diagnostic and medical history data, if available
- Be willing and able to comply with the study visit schedule and study procedures
Exclusion Criteria:
- Have serious medical or psychiatric comorbidity that, in the opinion of thevestigator, would present a concern for participant safety or compromise the abilityvide consent or assent, or comply with the study visit schedule and studydures
- Enrollment in an ADH1 or ADH2 interventional clinical study at the time of DMSg visit or at any point during the DMS
Updated on
13 Dec 2024.
Study ID: CLTX-305-901, ENDO-CALCILYTIX-901, 14167
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