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

NCT03967743 | Completed

• 1 other identifier: IRB-P00031382
• Study Type: observational
• Target: 43
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Genetics; Infant Development

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Infants with rare genetic disorders

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

Eligibility Criteria

• Age: Up to 4 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• Eligible patients are infants under 4 years of age with genetic disorders undergoing developmental surveillance in the NICU GraDS program.

You may not qualify if:

• Children 4 years of age or older will be excluded.

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn; Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Monica Wojcik, MD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Instructor in Pediatrics

Study Record Dates

• First Submitted: May 28, 2019
• First Posted: May 30, 2019
• Study Start: August 26, 2019
• Primary Completion: March 11, 2024
• Study Completion: May 1, 2026
• Last Updated: June 2, 2026

Record last verified: 2026-05

Locations

US (1)