Genetics of infant seizures and how a genetic diagnosis can help
Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis
['FUNDING_OTHER'] · BOSTON CHILDREN'S HOSPITAL · NIH-11248426
This project uses advanced genetic testing for babies who had seizures in their first year to find causes and follows families to see how a genetic diagnosis changes care and outcomes.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BOSTON CHILDREN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11248426 on ClinicalTrials.gov |
What this research studies
If your baby had seizures that started in the first year of life and no cause is known, the team will perform thorough genetic testing including short- and long-read whole genome sequencing and deep sequencing to look for mosaic changes. Infants will be enrolled into a prospective, longitudinal follow-up to track seizures, development, and collect blood samples. Parents will complete surveys and interviews so researchers can measure parent-perceived usefulness, caregiver burden, and any changes in medical care after a genetic diagnosis. The goal is to discover new genetic causes and to understand how getting a diagnosis affects your child's care and your family.
Who could benefit from this research
Good fit: Ideal participants are infants with unexplained epilepsy that began in the first year of life, whose families can provide blood samples and take part in follow-up visits and interviews.
Not a fit: Children with seizures that started after infancy, those with an already-known genetic diagnosis, or families unable to participate in testing and follow-up are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could lead to more accurate diagnoses, targeted treatment options, and better information and support for families of infants with epilepsy.
How similar studies have performed: Previous genetic testing has solved some infantile epilepsy cases and improved care, but using long-read sequencing and deep mosaic searches is a newer approach that may find additional causes.
Where this research is happening
BOSTON, UNITED STATES
- BOSTON CHILDREN'S HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: D'GAMA, ALISSA MARIA — BOSTON CHILDREN'S HOSPITAL
- Study coordinator: D'GAMA, ALISSA MARIA
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.