Intervention and Outcomes in Duarte Galactosemia

NCT ID: NCT02519504

Last Updated: 2019-09-19

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 566 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-07-31
• Study Completion Date: 2017-11-12

Brief Summary

The purpose of this study is to learn about Duarte galactosemia (DG). This study will examine the possible effects of Duarte galactosemia (DG) in children, and determine whether dietary exposure to milk in infancy or early childhood is associated with developmental outcomes of school-age children with Duarte galactosemia (DG).

Detailed Description

Duarte galactosemia (DG) is an autosomal recessive genetic condition characterized by partial loss of galactose-1-phosphate uridylyltransferase (GALT), which results in partially impaired metabolism of the sugar, galactose, which is abundant in milk and also found at lower levels in many other foods. There is currently no consensus on long-term outcome prognosis for infants with Duarte galactosemia (DG) and some studies suggest these children might be at increased risk for developmental difficulties later in childhood. There is also no conclusive data on whether children with Duarte galactosemia (DG) might benefit from dietary restriction of galactose. The investigator will be assessing whether 6-12 year old children with Duarte galactosemia experience developmental disorders relative to controls, and if so, whether dietary exposure to milk in infancy or early childhood is associated with developmental outcomes in this patient population.

Conditions

Duarte Galactosemia

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Duarte galactosemia

Pediatric subjects with Duarte galactosemia will undergo direct assessments of cognitive skills (memory, executive function, and auditory processing), communication processes (speech and language), physical development (including motor skills, coordination, and occurrence of tremors), and social-emotional development.

No interventions assigned to this group

Control

Pediatric subjects without Duarte galactosemia will undergo direct assessments of cognitive skills (memory, executive function, and auditory processing), communication processes (speech and language), physical development (including motor skills, coordination, and occurrence of tremors), and social-emotional development.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

Healthy Children/Children with Duarte Galactosemia:

• Age between 6-12 years

Exclusion Criteria

• Chronic illness
• Any condition unrelated to Duarte Galactosemia but known to cause developmental problems
• Children who did not have the current parent/guardian as the primary caregiver when the child was an infant

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 12 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Patient-Centered Outcomes Research Institute

OTHER

Sponsor Role: collaborator

Emory University

OTHER

Sponsor Role: lead

Responsible Party

Judith Fridovich-Keil

Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Judith Fridovich-Keil, PhD

Role: PRINCIPAL_INVESTIGATOR

Emory University

Locations

Emory University

Atlanta, Georgia, United States

Countries

United States

Provided Documents

Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

IRB00081271

Identifier Type: -

Identifier Source: org_study_id