Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder

Recruiting

• Conditions: TANGO2-related Disorder
• Interventions: Genetic: Observation

• Registration Number: NCT05374616
• Lead Sponsor: Baylor College of Medicine

Brief Summary

The study aims to establish a biorepository of individuals with TANGO2 deficiency to support scientific research and establish a comprehensive clinical database of affected individuals to understand the disease course.

Detailed Description

TANGO2-related disorder is a rare autosomal recessive genetic disorder that can cause recurrent rhabdomyolysis and life-threatening cardiac arrhythmias. Metabolic crises can be triggered by prolonged fasting and dehydration. Intellectual disability, seizures, hypothyroidism, and gait abnormalities are observed frequently. The function of TANGO2 is unknown and the pathogenesis of this disease is poorly understood. Understanding disease mechanism requires studying disease cells/samples and thus establishing a biobank of tissues (blood and fibroblasts) of individuals affected with TANGO2 deficiency is paramount. Natural History Study of TANGO2-related disorder will allow investigators to understand the course of the disease and develop new therapies in the future to decrease morbidity associated with this genetic condition.

Study Timeline

• Study Start: 2018-05-18
• Study First Submitted: 2022-05-10
• Study First Submitted QC: 2022-05-13
• Study First Posted: 2022-05-16
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-20
• Last Update Posted: 2024-06-24
• Primary Completion: 2030-01-01
• Study Completion: 2030-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

All patients with pathogenic TANGO2 variants will be included.

Exclusion Criteria

Patients who do not have TANGO2-related disease will be excluded.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Individuals with TANGO2 deficiency	Observation	Individuals with TANGO2 deficiency known to have disease causing variants in TANGO2

Primary Outcome Measures

Name	Time	Method
Number of participants with metabolic and cardiac crisis assessed by the number of hospitalizations	10 years	Detailed interview with participants and review of medical records will be used to assess the frequency and triggers of metabolic and cardiac crises

Trial Locations

Locations (1)

Baylor College of Medicine; 🇺🇸 Houston, Texas, United States