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

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.

Study Overview

• Status: Recruiting
• Conditions: Genetic Predisposition to Disease; Genetic Disease; Development, Infant; Genetic Syndrome; Development, Child

Detailed 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 Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

• Study Contact: Name: Monica H Wojcik, MD; Phone Number: 617-355-5355; Email: Monica.Wojcik@childrens.harvard.edu
• Study Contact Backup: Name: Jonathan Litt, MD; Email: jonathan.litt@childrens.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital
      • Contact: Monica Wojcik; Phone Number: 617-355-5355; Email: monica.wojcik@childrens.harvard.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 4 years (Child)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

This is a prospective, registry study of infants under 4 years of age with genetic disorders being seen clinically in the NICU GraDS program.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Infants with rare genetic disorders; This is a prospective, registry study of infants with genetic disorders being seen clinically in the NICU GraDS program.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Registry of infants with rare genetic disorders	Study subjects will be followed in the NICU GraDS program until approximately 3 years of age, though there will be prospective review of medical records until a maximum age of 18 years.	Up to 18 years

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Investigators: Principal Investigator: Monica Wojcik, MD, Boston Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): August 26, 2019
• Primary Completion (Estimated): June 1, 2024
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: May 28, 2019
• First Submitted That Met QC Criteria: May 28, 2019
• First Posted (Actual): May 30, 2019

Study Record Updates

• Last Update Posted (Actual): August 30, 2023
• Last Update Submitted That Met QC Criteria: August 29, 2023
• Last Verified: August 1, 2023

More Information

Terms related to this study

• Keywords: Genetics; Infant Development
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Diseases, Inborn; Genetic Predisposition to Disease
• Other Study ID Numbers: IRB-P00031382

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No