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NCT03967743 Clinical Trial

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 Details — Status: Recruiting

Administrative data
NCT number NCT03967743
Other study ID # IRB-P00031382
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date August 26, 2019
Est. completion date December 1, 2025

Study information
Verified date June 2024
Source Boston Children's Hospital
Contact Monica H Wojcik, MD
Phone 617-355-5355
Email Monica.Wojcik@childrens.harvard.edu
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

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.

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 150
Est. completion date December 1, 2025
Est. primary completion date June 1, 2025
Accepts healthy volunteers No
Gender All
Age group N/A to 4 Years
Eligibility 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 Design

Related Conditions & MeSH terms

Locations
Country Name City State
United States Boston Children's Hospital Boston Massachusetts

Sponsors (1)
Lead Sponsor Collaborator
Boston Children's Hospital

Country where clinical trial is conducted

United States, 

Outcome
Type Measure Description Time frame Safety issue
Primary 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
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