Clinical trial NCT02519504: Intervention and Outcomes in Duarte Galactosemia
Official title: Intervention and Outcomes in Duarte Galactosemia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Duarte Galactosemia
Keywords: Galactose-1-phosphate uridylyltransferase deficiency
Cognitive disorders
Lead sponsor: Emory University
Sponsor class: OTHER
Collaborators: name: Patient-Centered Outcomes Research Institute
First posted: 2015-08-11
Enrollment: 566
Sex: ALL
Minimum age (years): 6
Maximum age (years): 12
Standard ages: CHILD
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Study participants will be recruited in multiple collaborating states from records of infants born in that state who were diagnosed with Duarte Galactosemia detected by newborn screening (NBS). The current list of collaborating states includes: AL, CA, GA, IA, IL, MI, MO, NC, NJ, OR, SC, TX, WA, and WI but this list may change.

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.

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

Primary outcomes:
measure: Children's Memory Scale Score
timeFrame: Baseline
measure: Wechsler Intelligence Scale for Children IV-Integrated (WISC-IV-Integrated): Digit Span Score
timeFrame: Baseline
measure: Wechsler Intelligence Scale for Children IV-Integrated (WISC-IV-Integrated): Spatial Span Score
timeFrame: Baseline
measure: Executive Functioning in Verbal Domain Using A Developmental NEuroPSYchological Assessment-II (NEPSY-II) - Number of Words Generated
timeFrame: Baseline
measure: Planning Ability in the Visual-Spatial Domain Using A Developmental NEuroPSYchological Assessment-II (NEPSY-II): Route-Finding Score
timeFrame: Baseline
measure: Behavior Rating Inventory of Executive Function (BRIEF) Score
timeFrame: Baseline
measure: Wechsler Abbreviated Scale of Intelligence-II (WASI-II): Vocabulary Score
timeFrame: Baseline
measure: Wechsler Abbreviated Scale of Intelligence-II (WASI-II): Matrix Reasoning Score
timeFrame: Baseline
measure: Brain Wave Latency Assessment Value
timeFrame: Baseline
measure: Number of Participants Who Failed Pure-tone Hearing Assessment
timeFrame: Baseline
measure: Diagnostic Evaluation of Articulation and Phonology (DEAP) Score
timeFrame: Baseline
measure: Diadochokinetic (DDK) Speech Rate
timeFrame: Baseline
measure: Acoustic Voice Quality Index (AVQI) Score
timeFrame: Baseline
measure: Oral and Written Language (2nd Edition (OWLS-II): Listening Comprehension (LC)) Scales Score
timeFrame: Baseline
measure: Oral and Written Language (2nd Edition (OWLS-II): Oral Expression (OE)) Scales Score
timeFrame: Baseline
measure: Movement Assessment Battery for Children-2 (Movement ABC-2): Performance Test Percentiles
timeFrame: Baseline
measure: Iowa Oral Performance Instrument (IOPI) Tongue Strength Value
timeFrame: Baseline
measure: Essential Tremor Rating Assessment Scale (TETRAS) Score
timeFrame: Baseline
measure: Social Skills Improvement System (SSIS) Rating Scales Score
timeFrame: Baseline
measure: Child Behavior Checklist for Ages 6-18 (CBCL/6-18) T-Scores
timeFrame: Baseline
measure: Revised Children's Manifest Anxiety Scale-2nd Edition (RCMAS-2) T-Scores
timeFrame: Baseline
measure: Number of Children Participating in Special Education or Other Intervention Experiences
timeFrame: Baseline
measure: Pediatric Adventitious Movement Scale - Upper Extremity Steadiness Score
timeFrame: Baseline
measure: Pediatric Adventitious Movement Scale - Archimedes Spiral Task Measurement
timeFrame: Baseline
measure: Hand Strength Value
timeFrame: Baseline
measure: The Goldman Fristoe Test of Articulation-3 (GFTA-3) Score
timeFrame: Baseline
measure: The Children's Depression Inventory-2 (CDI-2) Score
timeFrame: Baseline
measure: Structure-Function-Praxis (SFP) Exam Score
timeFrame: Baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Atlanta
country: United States
facility: Emory University
state: Georgia
Study officials:
affiliation: Emory University
name: Judith Fridovich-Keil, PhD
role: PRINCIPAL_INVESTIGATOR
References: