Clinical Trial: Intervention and Outcomes in Duarte Galactosemia

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Intervention and Outcomes in Duarte Galactosemia

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 Summary: 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.
Sponsor: Emory University

Current Primary Outcome:

  • Children's Memory Scale [ Time Frame: Baseline ]
    Memory will be tested using the Children's Memory Scale which provides indices of visual and verbal memory processes, immediate and delayed memory, working memory, and attention/concentration for individuals 5 to 16 years. Each of the eight subtests will be scored, with an average score being 100. Most children score between 85 and 115. Lower scores indicate impaired memory abilities.
  • Auditory working memory using Wechsler Intelligence Scale for Children IV-Integrated (WISC-IV-Integrated): Digit Span [ Time Frame: Baseline ]
    The digit span test forward assesses attention and short-term memory. The digit span test backward assesses measures working memory. For the forward test, the examinee is told to listen carefully because the examiner will say a series of numbers and ask him/her to repeat them back to in the same order. For the backward test, hte examiner will ask the examinee to repeat the numbers backwards, that is, by starting with the last number said and going backwards to the first number said. This process continues until the examinee can no longer remember either the full sequence of numbers or the correct order. Both forward and reverse trials are given twice. The Digit Span test is scored by the amount of numbers the examinee was able to remember in each test. The examiner must add the total number of correct sequences, backwards and forwards. Scores could range from 0 to 16 with higher scores indicating better performance.
  • Spatial working memory using Wechsler Intelligence Scale for Children IV-Integrated (WISC-IV-Integrated): Spatial Span [ Time Frame: Baseline ]
  • Children's Memory Scale [ Time Frame: Baseline ]
    Memory will be tested using the Children's Memory Scale which provides indices of visual and verbal memory processes, immediate and delayed memory, working memory, and attention/concentration for individuals 5 to 16 years. Each of the eight subtests will be scored, with an average score being 100. Most children score between 85 and 115. Lower scores indicate impaired memory abilities.
  • Auditory working memory using Wechsler Intelligence Scale for Children IV-Integrated (WISC-IV-Integrated): Digit Span [ Time Frame: Baseline ]
    The digit span test forward assesses attention and short-term memory. The digit span test backward assesses measures working memory. For the forward test, the examinee is told to listen carefully because the examiner will say a series of numbers and ask him/her to repeat them back to in the same order. For the backward test, hte examiner will ask the examinee to repeat the numbers backwards, that is, by starting with the last number said and going backwards to the first number said. This process continues until the examinee can no longer remember either the full sequence of numbers or the correct order. Both forward and reverse trials are given twice. The Digit Span test is scored by the amount of numbers the examinee was able to remember in each test. The examiner must add the total number of correct sequences, backwards and forwards. Scores could range from 0 to 16 with higher scores indicating better performance.
  • Spatial working memory using Wechsler Intelligence Scale for Children IV-Integrated (WISC-IV-Integrated): Spatial Span [ Time Frame: Baseline ]