Could a simple diet change help kids with Ultra-Rare metabolic disorder?

NCT ID NCT06845501

First seen May 26, 2026 · Last updated Jun 23, 2026 · Updated 4 times

Summary

This study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise, but this is a very small trial.

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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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Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

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

Locations

  • Chu Saint-Etienne

    RECRUITING

    Saint-Etienne, 42055, France

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

What this could mean

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

Active substance

purine-rich diet

What this could lead to

If it works, this diet could help control symptoms and reduce hospitalizations for people with this rare disease.

What could go wrong

This is a very small, early study with only 10 participants. Success in one patient may not apply to others, and the diet may not work for everyone.

Conditions

The condition(s) this trial relates to.

AICA-ribosiduria

As listed by the trial registrant

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