New study aims to unlock clues for rare childhood disease

NCT ID NCT07432880

First seen Feb 27, 2026 · Last updated May 20, 2026 · Updated 11 times

Summary

This study follows up to 30 children (up to age 16) with a rare genetic condition called methylmalonic acidemia (MMA). The goal is to track how the disease progresses over time by looking at blood tests and other health signs. No new treatments are tested here; instead, the information gathered will help design future therapies. Some children who have had a liver transplant are also included.

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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

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

  • Contact

    Email: •••••@•••••

Locations

  • CHOP (Children's hospital of Philadelphia)

    Philadelphia, Pennsylvania, 19104, United States

    Contact Email: •••••@•••••

    Contact

  • GOSH NHS (Great Ormond Street Hospital for Children)

    London, WC1N 3JH, United Kingdom

    Contact Email: •••••@•••••

    Contact

  • Hospital Universitario 12 de Octubre

    Madrid, 28041, Spain

    Contact Email: •••••@•••••

    Contact

  • OBGP (Bambino Gesu Ospedale Pediatrico)

    Roma, 00146, Italy

    Contact Email: •••••@•••••

    Contact

  • OSR_San Raffaele

    Milan, 20132, Italy

    Contact Email: •••••@•••••

    Contact

  • Royal Manchester Children Hospital

    Manchester, M13 9WL, United Kingdom

    Contact Email: •••••@•••••

    Contact

  • SJD_San Joan de Deù Children's Hospital

    Barcelona, 08950, Spain

    Contact Email: •••••@•••••

    Contact

  • UPMC (Children's hospital of Pittsburgh)

    Pittsburgh, Pennsylvania, 15224, United States

    Contact Email: •••••@•••••

    Contact

Conditions

Explore the condition pages connected to this study.