Étude de suivi de l’hypocalcémie autosomique dominante de types 1 et 2 (HAD1/2)
Date de révision : 16/01/2025
14 participants
Femme Homme
Tout âge
Date de début de recrutement : 09/10/2025
Date de fin de recrutement : 09/10/2025
La durée de participation est de: 60 mois
Résumé de l'essai
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 a real-world setting, and how standard of care treatment impacts ADH1 and ADH2 symptoms. The study will include adult and pediatric participants with a confirmed clinical diagnosis of ADH1 or ADH2. Each participant's data will be collected over a period of up to 5 years. In addition, retrospective (or past) data will be collected.
Objectif principal
A global, multi-center, Disease Monitoring Study (DMS) in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designed to characterize ADH1 and ADH2 disease presentation and progression through retrospective (past) and longitudinal prospective (over time into the future) data collection.
Critères :
Critères d'inclusion :
- Have a documented activating variant or variant of uncertain significance of the CASR gene causative of ADH1 or documented activating variant or variant of uncertain significance of the GNA11 gene causative of ADH2
- Be willing and able to provide informed consent or assent after the nature of the study and its details have been explained, and prior to any research-related procedures
- Be willing and able to comply with the study visit schedule and study procedures
- Be willing and able to provide access to prior medical records including imaging, biochemical, and diagnostic and medical history data, if available
Critères d'exclusion :
- Have serious medical or psychiatric comorbidity that, in the opinion of the Investigator, would present a concern for participant safety or compromise the ability to provide consent, or comply with the study visit schedule and study procedures
- Enrollment in an interventional clinical study at the time of DMS Screening visit
Lieux et contacts
Sites des essais
Adresse
CHRU de Lille
59000 Lille France
Hôpital Femme Mère Enfant
69500 Bron France
CHU Bicetre
94270 Le Kremlin-Bicêtre France