Scientists launch major study to unravel rare genetic disorder

NCT ID NCT05374616

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to collect medical information and biological samples from 300 people with TANGO2-related disorder, a rare genetic condition. By tracking health events like metabolic and cardiac crises over time, researchers hope to better understand the disease course. The goal is to build a comprehensive database and biorepository to support future research and potential treatments.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this study will provide crucial insights into TANGO2 deficiency, potentially guiding future treatments and improving care for affected individuals.

What could go wrong

This is an observational study, not a treatment trial. It will not directly benefit participants and may take years to yield meaningful results.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Baylor College of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••