Intervention and Outcomes in Duarte Galactosemia

Emory University

Status: Completed

Conditions: Duarte Galactosemia

Study type: Observational

Funder types: Other

Identifiers

NCT02519504

IRB00081271

Details and patient eligibility

About

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).

Full 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.

Enrollment: 566 patients

Sex: All

Ages: 6 to 12 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

566 participants in 2 patient groups

Duarte galactosemia

Description:

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.

Control

Description:

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.