CLARIFY: ADH1 and ADH2 Disease Monitoring Study (DMS)

Overview

Información sobre este estudio

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.

 

Elegibilidad para la participación

Los requisitos de elegibilidad de los participantes incluyen la edad, el sexo, el tipo y el estadio de la enfermedad, y los problemas de salud o tratamientos previos. Las pautas difieren de un estudio a otro e identifican quiénes pueden o no pueden participar. No hay garantía de que cada persona elegible que desee participar en un ensayo se inscribirá. Comunícate con el equipo del estudio para analizar la elegibilidad del estudio y la posible participación.

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

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.

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 3/19/2024. Questions regarding updates should be directed to the study team contact.

Sedes participantes de Mayo Clinic

Los estatus de los estudios cambian con frecuencia. Comunícate con el equipo del estudio para obtener la información más actualizada acerca de la posibilidad de participar.

Sede de Mayo Clinic Estatus Contacto

Rochester, Minn.

Investigador principal de Mayo Clinic

Peter Tebben, M.D.

Cerrado para la inscripción

Contact information:

Department of Medicine (DOM) Research Hub

(507) 266-1944

DOMRESEARCHHUB@mayo.edu

More information

Publicaciones

Publications are currently not available
.
CLS-20536108

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