First human trial aims to lengthen telomeres, offering hope for rare genetic diseases

NCT ID NCT06817590

Summary

This early-stage trial is testing whether a combination of two oral compounds (deoxycytidine and deoxythymidine) is safe for people with rare genetic disorders called telomere biology disorders. These disorders cause very short telomeres (protective caps on chromosomes), leading to bone marrow failure, lung disease, and other serious health problems. The study will enroll 36 patients aged 1-70 to take the medication three times daily for 24 weeks, monitoring for side effects and checking for changes in blood counts and lung function.

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Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • Boston Childrens Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

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

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

    Contact

Conditions

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