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NCT Number: NCT05374616

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

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.

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Key information

Conditions

TANGO2-related Disorder

Age range

0 day and older

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

All patients with pathogenic TANGO2 variants will be included.

Exclusion criteria

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

Treatment and study plan

Observation

Genetic

Retrospective and prospective Natural History Study

Primary outcomes

  1. Number of participants with metabolic and cardiac crisis assessed by the number of hospitalizations

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Baylor College of Medicine

Other

Registry information

Important dates

Study start
2018
Primary completion
2030
Study completion
2030
First posted
May 16, 2022
Registry last updated
Oct 1, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.