New hope for kids with rare seizure disorder: vitamin B6 therapy in final testing phase

NCT ID NCT04706013

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

Summary

This study tests an oral form of pyridoxal 5'-phosphate (P5P), a vitamin B6 derivative, for people with a rare genetic condition called PNPO deficiency. The condition causes hard-to-control seizures. The study will enroll 15 patients aged 2 years and older who already take P5P to manage seizures. Researchers will compare survival and seizure frequency to historical data from untreated patients. The goal is to provide a reliable pharmaceutical-grade P5P option.

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for PYRIDOX(AM)INE 5'-PHOSPHATE OXIDASE DEFICIENCY are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

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

Locations

  • Akron's Children's Hospital

    RECRUITING

    Akron, Ohio, 44308, United States

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

    Contact

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

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

    Contact

  • Children's Hospital Colorado

    RECRUITING

    Aurora, Colorado, 80045, United States

    Contact

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

  • Children's Hospital of Alabama

    RECRUITING

    Birmingham, Alabama, 35233, United States

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

    Contact

  • Duke Children's Hospital

    ACTIVE_NOT_RECRUITING

    Durham, North Carolina, 27705, United States

  • Lucile Packard Children's Hospital

    RECRUITING

    Palo Alto, California, 94304, United States

    Contact

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

  • Queensland Children's Hospital

    ACTIVE_NOT_RECRUITING

    South Brisbane, Queensland, Australia