Scientists track rare childhood disease to pave way for future cures

NCT ID NCT07432880

Summary

This study aims to better understand how a rare and severe genetic disorder called Methylmalonic Acidemia (MMA) progresses in children. Researchers will follow up to 30 children, aged 16 or younger, who have a severe form of the disease, with or without a liver transplant. The goal is to identify reliable signs and blood test results that show how active the disease is, which will help guide the development of future treatments.

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.