NCT05374616

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: Baylor College of Medicine · Academic / Other
• Sex: All
• Age: 0 Days
• Healthy volunteers: Not accepted

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.

Conditions

• TANGO2-related Disorder

Interventions

Type	Name	Description
GENETIC	Observation	Retrospective and prospective Natural History Study

Timeline

• Start date: 2018-05-18
• Primary completion: 2030-01-01
• Completion: 2030-01-01
• First posted: 2022-05-16
• Last updated: 2025-10-01

Locations

1 site across 1 country: United States