Recruiting

Observational Study

Sponsor:

Baylor College of Medicine

Code:

NCT05374616

Conditions

TANGO2-related Disorder

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Observation

Study Details

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.

Conditions

TANGO2-related Disorder

Study ID

NCT05374616

Start date

May 18, 2018

Status verified date

Sep, 2025

Completion date

Jan 1, 2030

Anticipated

Primary completion date

Jan 1, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

Individuals with TANGO2 deficiency

Individuals with TANGO2 deficiency known to have disease causing variants in TANGO2

Interventions

Observation

Retrospective and prospective Natural History Study

Primary outcome measure

  • Number of participants with metabolic and cardiac crisis assessed by the number of hospitalizations [ Time Frame: 10 years ]

Central Contacts and Locations

Locations

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Christina Miyake, MD

832-824-3278cymiyake@bcm.edu

Seema Lalani, MD

832-822-4280seemal@bcm.edu

More Information

Sponsor

Baylor College of Medicine

Last update posted

Oct 1, 2025

Last verified

Sep, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2025-10-01.