TANGO2-related Disorder
Conditions
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.
Interventions
GENETICObservation
Retrospective and prospective Natural History Study
Sponsors
Baylor College of Medicine
Study design
Observational model
CASE_ONLY
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
0 Days to No maximum
Healthy volunteers
No
Inclusion criteria
All patients with pathogenic TANGO2 variants will be included.
Exclusion criteria
Patients who do not have TANGO2-related disease will be excluded.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
United States
Outcome results
None listed