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

Genetic Disease Clinical Trial

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

Clinical Trial Summary

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.

Clinical Trial Description

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. Related factors such as quality of life and parental stress will also be assessed which will complement the evaluation of the role of a "developmental home" for these high risk infants. It is also hypothesized that gaps in care - mismatches between services received and services indicated based upon the developmental evaluation - will be identified. The results of this study will be used to inform future research efforts utilizing targeted approaches to improve developmental outcomes. For infants with rare genetic disorders, the aims are as follows: Aim 1: Characterize physical and psychosocial development using standardized longitudinal assessments. Aim 2: Identify developmental service needs, prescription, and utilization. Aim 3: Assess parental stress and health-related quality of life. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT03967743
Study type Observational [Patient Registry]
Source Boston Children's Hospital
Contact Monica H Wojcik, MD
Phone 617-355-5355
Email Monica.Wojcik@childrens.harvard.edu
Status Recruiting
Phase
Start date August 26, 2019
Completion date December 1, 2025
View Details
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