Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder
Purpose
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.
Condition
- TANGO2-related Disorder
Eligibility
- Eligible Ages
- Over 0 Days
- Eligible Sex
- All
- Accepts 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.
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Case-Only
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Individuals with TANGO2 deficiency | Individuals with TANGO2 deficiency known to have disease causing variants in TANGO2 |
|
Recruiting Locations
Houston 4699066, Texas 4736286 77030
More Details
- NCT ID
- NCT05374616
- Status
- Recruiting
- Sponsor
- Baylor College of Medicine
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.