Clinical trial NCT03967743: Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
Official title: Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Genetic Disease
Genetic Syndrome
Genetic Predisposition to Disease
Development, Infant
Development, Child
Keywords: Genetics
Infant Development
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
First posted: 2019-05-30
Enrollment: 150
Sex: ALL
Maximum age (years): 4
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Registry of infants with rare genetic disorders
timeFrame: Up to 18 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
affiliation: Boston Children's Hospital
name: Monica Wojcik, MD
role: PRINCIPAL_INVESTIGATOR
References: