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

NCT ID: NCT03967743

Last Updated: 2024-06-21

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-08-26

Study Completion Date

2025-12-01

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Genetic Disease Genetic Syndrome Genetic Predisposition to Disease Development, Infant Development, Child

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Infants with rare genetic disorders

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

No interventions assigned to this group

Eligibility Criteria

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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.
Maximum Eligible Age

4 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Monica Wojcik

Instructor in Pediatrics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Monica Wojcik, MD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

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Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Monica H Wojcik, MD

Role: CONTACT

617-355-5355

Jonathan Litt, MD

Role: CONTACT

Facility Contacts

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Monica Wojcik

Role: primary

617-355-5355

Other Identifiers

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IRB-P00031382

Identifier Type: -

Identifier Source: org_study_id

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