Assessing Development in Infants with Rare Genetic Disorders
Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
Boston Children's Hospital · NCT03967743
This study is testing a new way to track the development of infants under 4 years old with rare genetic disorders to see how they are growing and what support they need.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | N/A to 4 Years |
| Sex | All |
| Sponsor | Boston Children's Hospital (other) |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT03967743 on ClinicalTrials.gov |
What this trial studies
This study aims to apply a developmental surveillance model, originally designed for very low birth weight infants, to infants with rare genetic disorders. Conducted at Boston Children's Hospital, it will enroll infants under 4 years of age with genetic syndromes to evaluate their developmental profiles and needs through a prospective, longitudinal approach. The study will also assess related factors such as parental stress and quality of life, and identify gaps in care based on developmental evaluations. The findings are expected to inform future targeted interventions to enhance developmental outcomes for these high-risk infants.
Who should consider this trial
Good fit: Ideal candidates for this study are infants under 4 years of age diagnosed with genetic disorders who are receiving care in the NICU GraDS program.
Not a fit: Patients who are 4 years of age or older will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved developmental support and outcomes for infants with rare genetic disorders.
How similar studies have performed: While the approach of applying developmental surveillance to this specific population is novel, similar methodologies have shown promise in other high-risk infant populations.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Eligible patients are infants under 4 years of age with genetic disorders undergoing developmental surveillance in the NICU GraDS program. Exclusion Criteria: * Children 4 years of age or older will be excluded.
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (RECRUITING)
Study contacts
- Principal investigator: Monica Wojcik, MD — Boston Children's Hospital
- Study coordinator: Monica H Wojcik, MD
- Email: Monica.Wojcik@childrens.harvard.edu
- Phone: 617-355-5355
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant, Development, Child, Genetics, Infant Development