Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

Completed

Conditions studied: Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease, Development, Infant, Development, Child

In brief

The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs.

Key facts

Study ID
NCT03967743
Run by
Boston Children's Hospital
People needed
43
Starts
2019-08-26
Expected to finish
2026-05-01
Last updated by the study team
2026-06-02

Who can join

Age: any, up to 4. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

You may not qualify if…

Where it is running

Full record on ClinicalTrials.gov

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