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

Sponsor
Boston Children's Hospital (Other)
Overall Status
Recruiting
CT.gov ID
NCT03967743
Collaborator
(none)
150
Enrollment
1
Location
63.2
Anticipated Duration (Months)
2.4
Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    150 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Prospective
    Official Title:
    Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
    Actual Study Start Date :
    Aug 26, 2019
    Anticipated Primary Completion Date :
    Jun 1, 2024
    Anticipated Study Completion Date :
    Dec 1, 2024

    Arms and Interventions

    Arm Intervention/Treatment
    Infants with rare genetic disorders

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

    Outcome Measures

    Primary Outcome Measures

    1. Registry of infants with rare genetic disorders [Up to 18 years]

      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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A to 4 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Boston Children's Hospital Boston Massachusetts United States 02115

    Sponsors and Collaborators

    • Boston Children's Hospital

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Monica Wojcik, Instructor in Pediatrics, Boston Children's Hospital
    ClinicalTrials.gov Identifier:
    NCT03967743
    Other Study ID Numbers:
    • IRB-P00031382
    First Posted:
    May 30, 2019
    Last Update Posted:
    Oct 5, 2021
    Last Verified:
    Oct 1, 2021
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Monica Wojcik, Instructor in Pediatrics, Boston Children's Hospital
    Genetics
    Infant Development
    Additional relevant MeSH terms:
    Genetic Diseases, Inborn
    Disease Susceptibility
    Genetic Predisposition to Disease

    Study Results

    No Results Posted as of Oct 5, 2021