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Trial record 1 of 1 for:    Duarte galactosemia
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Intervention and Outcomes in Duarte Galactosemia

This study is currently recruiting participants.
Verified July 2017 by Judith Fridovich-Keil, Emory University
Sponsor:
ClinicalTrials.gov Identifier:
NCT02519504
First Posted: August 11, 2015
Last Update Posted: July 26, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Patient-Centered Outcomes Research Institute
Information provided by (Responsible Party):
Judith Fridovich-Keil, Emory University
  Purpose
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).

Condition
Duarte Galactosemia

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Intervention and Outcomes in Duarte Galactosemia

Resource links provided by NLM:


Further study details as provided by Judith Fridovich-Keil, Emory University:

Primary Outcome Measures:
  • 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 ]
    The spatial span test assesses working memory. During this task, participants are presented with a board containing blue blocks randomly arranged. The rater first taps out a pattern of blocks, beginning with two blocks and increasing with participant proficiency, and the participant is tasked with tapping the same pattern. After discontinuation of this part of the subtest, the participant is then tasked with tapping out the reverse pattern after the rater's demonstration. These patterns also begin with two blocks and increase with participant proficiency. Scores could range from 0 to 16 with higher scores indicating better performance.

  • Executive Functioning in Verbal Domain using A Developmental NEuroPSYchological Assessment-II (NEPSY-II): Word Generation [ Time Frame: Baseline ]
    The word generation subtest is designed to assess verbal productivity through the ability to generate words within specific semantic and initial letter categories. The participant is given a semantic or initial letter category and asked to produce as many words as possible in 60 seconds. Scores could range from 0 to 20 with higher scores indicating better executive control of language production, better inhibition and ideation, or better vocabulary knowledge.

  • Planning Ability in the Visual-Spatial Domain using A Developmental NEuroPSYchological Assessment-II (NEPSY-II): Route-Finding [ Time Frame: Baseline ]
    The route finding subtest is designed to assess knowledge of visual spatial relations and directionality, as well as the ability to use this knowledge to transfer a route from a simple schematic map to a more complex one. The participant is shown a schematic map with a target house and asked to find that house in a larger map with other houses and streets. Scores could range from 0 to 20 with higher scores indicating better performance with visuospatial relations and orientation.

  • Behavior Rating Inventory of Executive Function (BRIEF) [ Time Frame: Baseline ]
    Behavior Rating Inventory of Executive Function (BRIEF) is a questionnaire composed of three indices: Global Executive Composite, Behavioral Regulation Index, and Metacognition Index. Items are rated in a Likert-scale with 1 (never), 2 (sometimes), and 3 (often). The Global Executive Composite consists of 72 items with scoring ranging from 72 to 216. The Behavioral Regulation Index score is the total of 28 items and ranges from 28 to 84. The Metacognition Index score is the total of 44 items and ranges from 44 to 132. Lower scores reflect better functioning.

  • Wechsler Abbreviated Scale of Intelligence-II (WASI-II): Vocabulary [ Time Frame: Baseline ]
    The WASI: Vocabulary subtest is a quick estimate of an individual's level of intellectual functioning. The subtest is compromised of 42 total items that require the subject to orally define 4 images and 37 words presented both orally and visually. Higher scores indicate greater intellectual ability.

  • Wechsler Abbreviated Scale of Intelligence-II (WASI-II): Matrix Reasoning [ Time Frame: Baseline ]
    The WASI: Matrix Reasoning subtest is a quick estimate of an individual's level of intellectual functioning. The subtest is compromised of 35 incomplete grid patterns that require the participant to select the correct response from five possible choices. Higher scores indicate greater intellectual ability.

  • Auditory Brainstem Evoked Response (ABER) [ Time Frame: Baseline ]
    The ABER measures the initial response of the auditory pathway to sounds by quantifying the cranial nerve 8 conduction and brain wave latency and amplitude. For this test, three electrodes are attached to the child with removable adhesive, one on the forehead and one on each earlobe, to assess response to stimulation. Responses to a clicking sound are recorded by a computerized software system.

  • Pure-tone hearing assessment [ Time Frame: Baseline ]
    Pure-tone hearing test measures both conductive and sensorineural hearing loss. In this procedure, sounds are presented at different frequencies and volumes through speakers, headphones, and small devices placed behind the ear while the participant stands in a soundproof booth. Pure-tone average (PTA) will be calculated for each ear by averaging the pure-tone threshold values at different frequencies and volumes.

  • Diagnostic Evaluation of Articulation and Phonology (DEAP) [ Time Frame: Baseline ]

    The DEAP evaluates both articulation and phonological processes. The DEAP includes a Diagnostic Screen, a diagnostic Articulation Assessment, a diagnostic Phonology Assessment (with a phonological analysis), and an Oral Motor Screen. The Diagnostic Screen can determine whether a child has a speech difficulty. If a problem is present, can determine which aspects of the child's system needs further exploration using the other assessments:

    • Articulation Assessment: samples all English speech sounds (consonants and vowels) in initial and final position
    • Oro-motor assessment: DDK (diadochokinetic) task for sequencing, intelligibility and fluency. Isolated and sequenced movements looked at
    • Phonological Assessment: word production sampled. Picture naming and picture description tasks

  • Word repetition task [ Time Frame: Baseline ]
    Accuracy of spoken word repetition for trained and untrained words will be assessed

  • A connected speech sample [ Time Frame: Baseline ]
    A connected speech sample of at least 50 utterances recorded over at least 10 minutes in connected speech and calculation of articulation rate.

  • Oral and Written Language Scales, 2nd edition (OWLS-II): Listening Comprehension (LC) [ Time Frame: Baseline ]
    OWLS-II: LC measures oral language reception, which is the understanding of spoken language. The examiner orally presents increasingly difficult words, phrases, and sentences to the participant and he/she responds by pointing to or stating which of four pictures is correct. The derived mean standard score for this test is 100 and higher scores indicate better listening comprehension.

  • Oral and Written Language Scales, 2nd edition (OWLS-II): Oral Expression (OE) [ Time Frame: Baseline ]
    OWLS-II: OE measures oral language expression, which is the use of spoken language. The examiner presents a verbal prompt along with a picture and the participant must respond orally to the prompt with increasingly difficult language. The derived mean standard score for this test is 100 and higher scores indicate better oral expression.

  • Movement Assessment Battery for Children-2 (Movement ABC-2): Performance Test [ Time Frame: Baseline ]
    Movement ABC-2: Performance Test is designed to identify and describe impairments in motor performance of children and adolescents 3 through 16 years of age. The Performance Test involves children completing a series of fine and gross motor tasks grouped in three categories: Manual Dexterity, Aiming and Catching, and Balance. A psychologist will observe and record how the child performs the tasks. Norms are provided for three Age Bands (3:0-6:11 years, 7:0-10:11 years, and 11:0-16:11 years).

  • Strength assessed using the Iowa Oral Performance Instrument (IOPI) [ Time Frame: Baseline ]
    IOPI is a hand held manometer which measures intraoral pressure generated by compression of an air filled bulb by the tongue against the palate. Strength is measured in kilopascal (kPa). Typically, strength is decreased in subjects with classic galactosemia and can contribute to speech disorders.

  • Essential Tremor Rating Assessment Scale (TETRAS) [ Time Frame: Baseline ]
    TETRAS consists of 10 items that evaluate tremor in the head, arms, and legs. The rater assigns a score of 0 to 4 for each item, in ascending order of severity.

  • Social Skills Improvement System (SSIS) Rating Scales [ Time Frame: Baseline ]
    SSIS Rating Scales is a parent-reported measure that evaluates social skills, problem behaviors, and academic competence. 38 items are rated in a Likert-scale of 0 (Never) to 3 (very often). The social skills score is norm-referenced with a mean of 100 with higher scores is indicative of better social skills.

  • Child Behavior Checklist for Ages 6-18 (CBCL/6-18) [ Time Frame: Baseline ]
    The CBCL is a parent-reported measure that evaluates a child internalizing and externalizing behaviors and total problems. It consists of 140 questions on a Likert-scale: 0 = Not True, 1 = Somewhat or Sometimes True, 2 = Very True or Often True. The range of possible values was 0-280 (0=good to 280=worst) with higher scores indicative of better behavior and less problems.

  • Revised Children's Manifest Anxiety Scale-2nd edition (RCMAS-2) [ Time Frame: Baseline ]
    RCMAS measures for the presence of academic stress, test anxiety, peer and family conflicts, and drug problems in children. The test consists of 49 yes/no items and a total score is calculated by summing the number of yes responses. Scores range from 0-40 with higher scores implying more symptoms of anxiety.

  • Participation in Special Education or Other Intervention Experiences [ Time Frame: Baseline ]
    Questionnaire developed by project staff based on experiences of children with classic galactosemia with questions on specific problems experienced, when identified, placement or intervention, other problems.

  • Parenting Stress Index - Short Form (PSI-SF) [ Time Frame: Baseline ]
    The Parenting Stress Index-Short Form (PSI-SF) is a 36-item scale measuring caregiver stress and inappropriate parenting. Each statement is rated using a 5-point Likert scale indicating how much that item disturbed the caregiver in the past week and yields scores for Parental Distress (contributing parental factors), Difficult Child (contributing child factors related to parenting stress and dysfunction). Higher scores indicate higher levels of caregiver stress.

  • Upper extremity steadiness [ Time Frame: Baseline ]
    One of the TETRAS tasks involves drawing Archimedes spirals. The spiral will be drawn on a piece of paper placed on a Wacom Intuos5 electronic tablet, which records pen movements and pressure. Upper extremity steadiness will be recorded on the Wacom tablet and quantified using NeuroGlyphics software .

  • Pen pressure [ Time Frame: Baseline ]
    One of the TETRAS tasks involves drawing Archimedes spirals. The spiral will be drawn on a piece of paper placed on a Wacom Intuos5 electronic tablet, which records pen movements and pressure. Pen pressure will be recorded on the Wacom tablet and quantified using NeuroGlyphics software .

  • Hand strength measurements [ Time Frame: Baseline ]
    Hand strength will be assessed with a standard pediatric dynamometer.

  • The Goldman Fristoe Test of Articulation-3 (GFTA-3) Score [ Time Frame: Baseline ]
    The Goldman Fristoe Test of Articulation-3 (GFTA-3) is a systematic measure of articulate consonant and vowel sounds for children. The derived mean standard score for this test is 100 and higher scores indicate better articulation.

  • The Children's Depression Inventory-2 (CDI-2) Score [ Time Frame: Baseline ]
    The Children's Depression Inventory-2 (CDI-2) is a screening measure for symptoms of depression in children. It is a self-report form and the short form includes 12 items. Each item receives a score of 0-2. A higher score indicates more depressive symptoms.


Biospecimen Retention:   Samples With DNA
DNA isolated from saliva samples

Estimated Enrollment: 1200
Study Start Date: July 2015
Estimated Study Completion Date: July 2018
Estimated Primary Completion Date: November 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.
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.
Parent/Caregiver
Parents/caregivers of children with Duarte galactosemia or parents/caregivers of healthy children will participate in focus groups or complete ratings of child emotional and behavioral outcomes, child social skills, child special education or other intervention experiences, if any (a possible covariate), and their own (caregiver) stress levels.

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   6 Years to 12 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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, IL, MI, NC, NJ, OR, SC, TX, WA, and WI but this list may change.
Criteria

Inclusion Criteria:

Healthy Children/Children with Duarte Galactosemia:

  • Age between 6-12 years

Parents/Caregivers:

  • Primary caregiver to a child age between 6-12 years of age with/without Duarte Galactosemia

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
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02519504


Contacts
Contact: Judith Fridovich-Keil, PhD 404-727-3924 jfridov@emory.edu

Locations
United States, Georgia
Emory University Recruiting
Atlanta, Georgia, United States, 30322
Contact: Judith Fridovich-Keil, PhD    404-727-3924    jfridov@emory.edu   
Sponsors and Collaborators
Emory University
Patient-Centered Outcomes Research Institute
Investigators
Principal Investigator: Judith Fridovich-Keil, PhD Emory University
  More Information

Responsible Party: Judith Fridovich-Keil, Professor, Emory University
ClinicalTrials.gov Identifier: NCT02519504     History of Changes
Other Study ID Numbers: IRB00081271
First Submitted: August 6, 2015
First Posted: August 11, 2015
Last Update Posted: July 26, 2017
Last Verified: July 2017

Keywords provided by Judith Fridovich-Keil, Emory University:
Galactose-1-phosphate uridylyltransferase deficiency
Cognitive disorders

Additional relevant MeSH terms:
Galactosemias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases