Developing personalized gene therapies for rare genetic diseases in children

Providing ethical guidance for the development of individualized genomic medicine as rare as n-of-1

NIH-funded research Boston Children's Hospital · NIH-10888228

This study is working on personalized treatments for kids with rare genetic diseases that don’t have any approved medicines yet, using special tools to target their unique genetic needs and ensuring that these treatments are safe and ethical.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionBoston Children's Hospital NIH-funded
Lab location1 site (Boston, United States)
Project IDNIH-10888228 on NIH RePORTER

What this research studies

This research focuses on creating individualized gene-targeted treatments for children with rare genetic diseases, known as orphan diseases, which currently have no approved therapies. The approach involves designing specific antisense oligonucleotides (ASOs) that can target unique genetic variants in individual patients. By addressing the ethical, legal, and social implications of these personalized treatments, the research aims to provide a framework for safely and effectively delivering these therapies to children who need them most.

Who could benefit from this research

Good fit: Ideal candidates for this research are children under 11 years old diagnosed with rare genetic diseases that currently lack approved treatments.

Not a fit: Patients with common genetic disorders or those over the age of 11 may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to effective, personalized treatments for children suffering from rare genetic disorders.

How similar studies have performed: Other research has shown promise in developing individualized therapies for rare diseases, particularly using antisense oligonucleotides, indicating a growing field with potential for success.

Where this research is happening

Boston, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions Batten DiseaseBatten-Mayou DiseaseBatten-Spielmeyer-Vogt Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.