Phase
Condition
Hypoparathyroidism
Parathyroid Disorders
Treatment
N/AClinical Study ID
Ages < 90 All Genders
Study Summary
Eligibility Criteria
Inclusion
Key Inclusion Criteria:
- Have a documented activating variant or variant of uncertain significance of theCASR gene causative of ADH1 or documented activating variant or variant of uncertainsignificance of the GNA11 gene causative of ADH2 associated with a clinical syndromeof 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 thestudy and its details have been explained, and prior to any research-relatedprocedures
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
Exclusion
Key Exclusion Criteria:
Have serious medical or psychiatric comorbidity that, in the opinion of theInvestigator, would present a concern for participant safety or compromise theability to provide consent or assent, or comply with the study visit schedule andstudy procedures
Enrollment in an interventional clinical study at the time of DMS Screening visit
Note: Other protocol defined Inclusion/Exclusion criteria may apply.
Study Design
Study Description
Connect with a study center
Royal North Shore Hospital
Saint Leonards, New South Wales 2065
AustraliaSite Not Available
Universitair Ziekenhuis Brussel
Jette, Brussels-Capital 1090
BelgiumSite Not Available
Universitaire Ziekenhuizen Leuven
Leuven, Flemish Brabant 3000
BelgiumSite Not Available
Bone Research and Education Centre
Oakville, Ontario L6M 1M1
CanadaSite Not Available
Aarhus University Hospital
Aarhus, 8200
DenmarkSite Not Available
Helsinki University Hospital (HUS) - The New Children's Hospital
Helsinki, 00290
FinlandSite Not Available
HCL Hopital Femme Mere Enfant
Bron, Auvergne-Rhône-Alpes 69500
FranceSite Not Available
HCL Hopital Edouard Herriot
Lyon, Auvergne-Rhône-Alpes 69003
FranceSite Not Available
Departement d'Endocrinologie et Diabetes pour Enfants - AP-HP Hopital Bicetre
Le Kremlin-Bicêtre, Île-de-France 94270
FranceSite Not Available
CHU de Lille
Lille, 59000
FranceSite Not Available
Endokrinologikum Gottingen
Göttingen, 37075
GermanySite Not Available
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
Milano, Lombardy 20122
ItalySite Not Available
IRCCS Ospedale San Raffaele
Milano, Lombardy 20132
ItalySite Not Available
Policlinico Universitario Campus Bio-Medico
Rome, 00128
ItalySite Not Available
Osaka University Hospital
Osaka, 565-0871
JapanSite Not Available
The University of Tokyo Hospital
Tokyo, 113-8655
JapanSite Not Available
Erasmus MC
Rotterdam, 3015 GD
NetherlandsSite Not Available
Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria
Lisbon, 1649-028
PortugalSite Not Available
Royal Manchester Children's Hospital
Manchester, M13 9WL
United KingdomSite Not Available
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland
Oakland, California 94609
United StatesSite Not Available
Children's Hospital Colorado
Aurora, Colorado 80045
United StatesSite Not Available
Nemours Children's Clinic
Jacksonville, Florida 32207
United StatesSite Not Available
Indiana University (IU) School of Medicine - University Hospital
Indianapolis, Indiana 46202
United StatesSite Not Available
Johns Hopkins Bayview Medical Center
Baltimore, Maryland 21224
United StatesSite Not Available
Boston Children's Hospital
Boston, Massachusetts 02115
United StatesSite Not Available
Mayo Clinic
Rochester, Minnesota 55902
United StatesSite Not Available
Physician's East Endocrinology
Greenville, North Carolina 27834
United StatesSite Not Available
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio 45229
United StatesSite Not Available
Ohio State University Medical Center (OSUMC)
Columbus, Ohio 43210
United StatesSite Not Available
The Diabetes & Thyroid Center of Fort Worth (DTC)
Fort Worth, Texas 76132
United StatesSite Not Available
Houston Methodist Hospital
Houston, Texas 77030
United StatesSite Not Available
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