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Активно (без набиране) NCT05227287

ADH1 and ADH2 Disease Monitoring Study (DMS)

Заболявания: Autosomal Dominant Hypocalcemia

Спонсор: Calcilytix Therapeutics, Inc., a BridgeBio company

Налично на: БГ
Обобщение
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.
Описание
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.
Кой може да участва
Key Inclusion Criteria: * 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 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 or variant of uncertain significance, 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 and its details have been explained, and prior to any research-related procedures * Be willing and able 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 Key Exclusion Criteria: * 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 assent, or comply with the study visit schedule and study procedures * Enrollment in an interventional clinical study at the time of DMS Screening visit Note: Other protocol defined Inclusion/Exclusion criteria may apply.
Места на провеждане 12
Австралия (1)
Royal North Shore Hospital
Saint Leonards , New South Wales
Белгия (1)
Universitaire Ziekenhuizen Leuven
Leuven , Flemish Brabant
Канада (1)
Bone Research and Education Centre
Oakville , Ontario
Дания (1)
Aarhus University Hospital
Aarhus
Финландия (1)
Helsinki University Hospital (HUS) - The New Children's Hospital
Helsinki
Франция (1)
HCL Hopital Femme Mere Enfant
Bron , Auvergne-Rhône-Alpes
Италия (1)
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
Milan , Lombardy
Япония (1)
Osaka University Hospital
Osaka
Нидерландия (1)
Erasmus MC
Rotterdam
Португалия (1)
Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria
Lisbon
Великобритания (1)
Royal Manchester Children's Hospital
Manchester
САЩ (1)
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland
Oakland , California
Технически детайли
Статус
Активно (без набиране)
Вид изследване
OBSERVATIONAL
Пол
Мъже и жени
Максимална възраст
90 Years
Здрави доброволци
Не
Начална дата
20.01.2022
Крайна дата
01.12.2028
Регистрационен номер
NCT05227287
Източник
anzctr
Запитване за медицински туризъм

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