Clinical trial NCT05374616: Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder
Official title: Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: TANGO2-related Disorder
Lead sponsor: Baylor College of Medicine
Sponsor class: OTHER
Collaborators: name: Tango2 Research Foundation
First posted: 2022-05-16
Enrollment: 300
Sex: ALL
Minimum age (years): 0
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: PROBABILITY_SAMPLE
Study population: Individuals with TANGO2-related disorder with any of the following conditions will be recruited: Recurrent rhabdomyolysis, cardiac arrhythmias, muscle weakness, ataxia, progressively unsteady gait, intellectual disability, hypothyroidism, and seizures.

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.

Eligibility criteria: Inclusion Criteria:

All patients with pathogenic TANGO2 variants will be included.

Exclusion Criteria:

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

Primary outcomes:
measure: Number of participants with metabolic and cardiac crisis assessed by the number of hospitalizations
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
Study officials:
References:
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