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NCT05374616

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

Recruiting now Last updated 1 October 2025
What this trial tests

trial testing Observation in TANGO2-related Disorder in 300 participants. Currently enrolling.

Timeline
18 May 2018
Primary endpoint
1 January 2030
1 January 2030

Quick facts

Lead sponsorBaylor College of Medicine
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment300
Start date18 May 2018
Primary completion1 January 2030
Estimated completion1 January 2030
Sites1 location across United States

Drugs / interventions tested

Conditions studied

Sponsor

Baylor College of Medicine

Who can join

0 Days and older, any sex, with TANGO2-related Disorder. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

  1. Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism.
    Lujan AL, Foresti O, Sugden C, Brouwers N, et al · · 2023 · cited 28× · PMID 36961129 · DOI 10.7554/elife.85345
  2. Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
    Miyake CY, Ehsan SA, Zhang L, Mackenzie SJ, et al · · 2023 · cited 11× · PMID 37421366 · DOI 10.1002/ajmg.a.63331
  3. Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder.
    Xu W, Cao Y, Stephens SB, Arredondo MJ, et al · · 2024 · cited 5× · PMID 38855866 · DOI 10.1172/jci.insight.171005

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