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Classic GalactosemiaEarly Phase 1NCT03838016

Preventing Speech and Language Disorders in Children With Classic Galactosemia

A Early Phase 1 study testing Babble Boot Camp in people with Classic Galactosemia and Speech Disorders in Children, run by Arizona State University at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

A critical knowledge gap is whether proactive intervention can improve speech and language outcomes in infants at known risk for communication disorders. Speech and language assessments and treatments are usually not initiated until deficits can be diagnosed, no earlier than age 2-3 years. Read more about this study

Who is it for?
Ages 2 to 54 months
What is being tested?
Babble Boot Camp
Could I receive a placebo?
No, everyone receives an active treatment
How many people
285 participants
Where
1 siteUnited States
Study dates
1 May 2019to 31 Aug 2025
Phase
Early Phase 1
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 2 to 54 months
  • All sexes
  • No healthy volunteers
  • Child

Who may be able to join

  • Newborn diagnosis of classic galactosemia
  • Any ethnic or racial background
  • Primary language in the home is English
  • Any geographic region in the US and other countries because the intervention is done online
  • Computer and internet access (we can help if a family wants to participate but doesn't have this access)
  • At least one parent must have at least an 8th grade education to be able to fill out the questionnaires

Who cannot join

  • Other forms of galactosemia outside of classic galactosemia
  • Medical, sensory, or psychiatric condition that could introduce confounding, e.g., Trisomy 21 or deafness

Trial locations and contacts

1 site in 1 country.

United States1 site
  • Arizona State University

    Tempe, Arizona, 85287

Other trials in United States

About this study

Official title: Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia

A critical knowledge gap is whether proactive intervention can improve speech and language outcomes in infants at known risk for communication disorders. Speech and language assessments and treatments are usually not initiated until deficits can be diagnosed, no earlier than age 2-3 years. Preventive services are not available. Children with classic galactosemia (CG) hold the keys towards investigating whether proactive services are more effective than conventional management. CG is a recessively inherited inborn error of metabolism characterized by defective conversion of galactose. Despite early detection and strict adherence to lactose-restricted diets, children with CG are at very high risk not only for motor and learning disabilities but also for severe speech sound disorder and language impairment. Delays are evident from earliest signals of communication and persist into adulthood in many cases but speech/language assessment and treatment are usually not initiated until deficits manifest. However, because CG is diagnosed via newborn screening, the known genotype-phenotype association can be leveraged to investigate the efficacy of proactive interventions during the acquisition of prespeech (2 to 12 months) and early communication skills (13 to 24 months). If this proactive intervention is more effective than standard care regarding speech and language outcomes in children with CG, this will change their clinical management from deficit-based to proactive services. It will also motivate investigating this approach in infants with other types of known risk factors, e.g., various genetic causes and very low birth weight.

The Babble Boot Camp is a program for children with CG, ages 2 to 24 months. The intervention is implemented by a pediatric speech-language pathologist (SLP) via parent training. Activities and routines are designed to foster earliest signals of communication, increase coo and babble behaviors, support the emergence of first words and word combinations, and expand syntactic complexity. The SLP meets with parents online every week for 10 to 15 minutes to provide instruction, feedback, and guidance. Close monitoring of progress is achieved via regularly administered questionnaires, a monthly day-long audio recording, and the SLPs weekly progress notes. At age 24 months, the active phase of the Babble Boot Camp ends. The children receive a professional speech/language assessment at ages 2 1/2, 3 1/2, and 4 1/2 years.

Read the detailed description

Speech and language assessments and treatments are usually not initiated until deficits can be diagnosed, which occurs at age 2-3 years at the earliest. Preventive services are not available. Children with classic galactosemia (CG) hold the keys towards investigating whether proactive services are more effective than conventional management. CG is a recessively inherited inborn error of metabolism characterized by defective conversion of galactose. Despite early detection and strict adherence to lactose-restricted diets, children with CG are at very high risk not only for motor and learning disabilities but also for severe speech sound disorder and language impairment. Delays are evident from earliest signals of communication and persist into adulthood in many cases. As with most other children, speech and language assessments and treatment are usually not initiated until deficits manifest. However, because CG is diagnosed via newborn screening, the known genotype-phenotype association can be leveraged to investigate whether proactive interventions during the acquisition of prespeech (2 to 12 months) and early communication skills (13 to 24 months) can mitigate the speech and language deficits. If the investigators show that interventions during the first two years of life are more effecting in improving speech and language outcomes in children with CG, compared to traditional care, this will change their clinical management from deficit-based to proactive services. It will also motivate investigating this approach in infants with other types of known risk factors for communication disorders, e.g., various genetic causes and very low birth weight.

The investigators created an intervention program designed to support communication abilities during the prespeech and early speech and language stages for ages 2 to 24 months. The Babble Boot Camp (BBC) is implemented via parent training by a speech-language pathologist (SLP) with expertise in early childhood using Zoom, a HIPAA-compliant telepractice software provided for free by the PI's institution, to connect with the families. Zoom runs on computers, tablets, and smartphones. Parents learn about the typical milestones of prespeech, speech, and language development, potential red flags for delays, and importantly, activities that support typical development for all stages of the program. Following an orientation to the program, the SLP meets with each family once per week for training and consultation the relevant activities given the child's current speech/language status. Examples of activities are stimulating and reinforcing coos and babble, enriching the child's linguistic environment with joint book reading and pointing out the names of objects, and expanding child utterances to provide slightly more complex model sentences. The key principle underlying all activities is the zone of proximal development, also referred to as scaffolding, where parents provide speech and language models that bridge what the child can already to and what is slightly beyond the child's skill set: the model is in the zone of skills that the child can do with help. One key skill that is targeted throughout the program is imitation. The program brochure includes the rationale, instructions, and examples for each activity, such as (direct quote from the brochure): "Expanding on your child's utterance will provide a model for more complex sentence structures as well as increase her/his vocabulary. An added benefit is to let your child hear words in their correctly produced forms when her/his own productions are showing some incorrect speech sounds. This will build your child's awareness of what the word should sound like and get her/him ready to try the correct form. Throughout your daily routine, listen to your child's utterances and expand upon them slightly. You can add descriptive words or fill in some missing words to make a more complete sentence without overwhelming your child's ability to comprehend your sentence.

Examples: Child: "Goggie bye-bye." Parent: "Yeah, that doggie is going bye-bye!" - Child:

"Mommy doing?" Parent: "What is Mommy doing? She is taking Sammie outside."

Being tested
Babble Boot Camp
Medical subject headings
Galactosemias

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Babble Boot CampBehavioural

    The Babble Boot Camp is an experimental study to investigate whether earliest and proactive activities and routines can positively influence the speech and language development of children who were diagnosed with classic galactosemia at birth. A speech-language pathologists implements the intervention by teaching parents to foster and expand earliest signals of communication, prespeech activities such as coo and babble, vocabulary growth, sentence complexity, and use of language to communicate. Examples are intentional eye contact, reinforcing babble with rewarding play activities, and repeating a child's rudimentary sentence with slight expansions to scaffold longer sentences.

Study groups in NCT03838016
Study groupRoleWhat they receive
Treatment cohort with classic galactosemiaExperimentalThese children and their parents receive the Babble Boot Camp intervention and also participate in the close monitoring activities (progress reports that the speech-language pathologist generates during the online meeting with the family; monthly daylong audio recording; questionnaires that are sent out every three to six months; formal speech and language testing at ages 2 1/2, 3 1/2, and 4 1/2 years).
Receives: Behavioral: Babble Boot Camp
Treatment cohort with classic galactosemia, delayed startExperimentalThe children in the control cohort enter the study when they are younger than 5 months old and participate in the close monitoring until they are 24 months old. They start getting the same treatment type and intensity as the treatment cohort but at a delayed age, when they turn 15 months.
Receives: Behavioral: Babble Boot Camp
Older control cohort with classic galactosemiaNo interventionThe children in the older control cohort are 6 months to 4 1/2 years old and provide standardized test results in the area of speech and language development at child ages 2 1/2, 3 1/2, and 4 1/2 years. They receive no treatment and no close monitoring. These families provide questionnaire information every three months until child age 24 months.
Typical controlsNo interventionThese children are free of any medical or developmental diagnosis. They enter the study at ages 2 to 5 months and provide close monitoring data until they are 24 months old, then they receive standardized speech and language testing at ages 2 1/2, 3 1/2, and 4 1/2 years, just like the treatment cohort, but the typical controls receive no treatment under this study.

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Speech sound production accuracy

    Standardized testing of speech sounds using a published test of articulation

    Measured: Through study completion, an average of 4 years 2 months

  2. Expressive language skills

    Standardized testing of expressive language ability, using a published test of child language

    Measured: Through study completion, an average of 4 years 2 months

Secondary outcomes (3)
  1. Cognitive development

    Standardized testing of cognitive development, using a published test

    Measured: Through study completion, an average of 4 years 2 months

  2. Quality of life using the PedsQL questionnaires

    Questionnaire-based assessment of quality of life for the child and parent(s). Captures physical functioning, physical symptoms, emotional functioning, social functioning, and cognitive functioning for children. Captures physical functioning, emotional functioning, social functioning, and work/school function for adults.

    Measured: Through study completion, an average of 4 years 2 months

  3. Child health and development using the Ages and Stages Questionnaires 3

    Questionnaire-based assessment of child development in the areas of communication, gross motor, fine motor, problem solving, and personal-social development for children.

    Measured: Through study completion, an average of 4 years 2 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted12 Feb 2019
  2. Study start1 May 2019
  3. Primary completion31 May 2025
  4. Study completion31 Aug 2025

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Early Phase 1
Primary purpose
Treatment
Allocation
Randomised
Intervention model
Parallel groups
Model description
The investigators created an intervention program, Babble Boot Camp (BBC), designed to support communication skills during the prespeech and early speech and language stages. One cohort with classic galactosemia (CG) enters this treatment at age 2-5 months and is monitored closely using audio and video recordings and questionnaires. A second cohort with CG enters close monitoring at age 2-5 months but starts treatment at age 15 months. A typical cohort enters close monitoring at age 2-5 months. Treatment and close monitoring ends at age 24 months. Follow-up testing of speech and language skills and questionnaire data about child development and parent well-being is collected once a year at ages 2 ½, 3 ½, and 4 ½ years. A cohort with CG, age 6 months to 4 ½ years, too old for any treatment and close monitoring, provides the same data as the other cohorts at ages 2 ½, 3 ½, and 4 ½ years. Results will show whether the BBC is effective and, if yes, which start age is best.
Masking
Single blind
Who is masked
Outcomes assessor
Enrolment
285 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03838016
Sponsor's protocol ID
STUDY00004969
Status last verified
Sep 2024
First submitted
7 Feb 2019
Last updated
23 Jan 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Yes: Data will be de-identified. Only data that are reported in publications will be shared.

Publications

  • Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31.

    PubMed 29409891
  • Antshel KM, Epstein IO, Waisbren SE. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology. 2004 Oct;18(4):658-64. doi: 10.1037/0894-4105.18.4.658.

    PubMed 15506833
  • Potter NL, Nievergelt Y, Shriberg LD. Motor and speech disorders in classic galactosemia. JIMD Rep. 2013;11:31-41. doi: 10.1007/8904_2013_219. Epub 2013 Apr 2.

    PubMed 23546812
  • Waisbren SE, Norman TR, Schnell RR, Levy HL. Speech and language deficits in early-treated children with galactosemia. J Pediatr. 1983 Jan;102(1):75-7. doi: 10.1016/s0022-3476(83)80292-3. No abstract available.

    PubMed 6848731
  • Timmers I, van den Hurk J, Di Salle F, Rubio-Gozalbo ME, Jansma BM. Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions. J Inherit Metab Dis. 2011 Apr;34(2):367-76. doi: 10.1007/s10545-010-9266-4. Epub 2011 Feb 3.

    PubMed 21290187
  • Lewis FM, Coman DJ, Syrmis M, Kilcoyne S, Murdoch BE. Charting a seven-year trajectory of language outcomes for a child with galactosemia. J Dev Behav Pediatr. 2013 Jul-Aug;34(6):414-8. doi: 10.1097/DBP.0b013e31829a7be1.

    PubMed 23838587
  • Lewis FM, Coman DJ, Syrmis M, Kilcoyne S, Murdoch BE. Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases. JIMD Rep. 2013;10:45-52. doi: 10.1007/8904_2012_200. Epub 2012 Dec 29.

    PubMed 23430800
  • Potter NL, Lazarus JA, Johnson JM, Steiner RD, Shriberg LD. Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis. 2008 Aug;31(4):524-32. doi: 10.1007/s10545-008-0877-y. Epub 2008 Jul 12.

    PubMed 18649009
  • Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis. 1990;13(6):802-18. doi: 10.1007/BF01800204.

    PubMed 1706789
  • Storkel HL, Komesidou R, Fleming KK, Romine RS. Interactive Book Reading to Accelerate Word Learning by Kindergarten Children With Specific Language Impairment: Identifying Adequate Progress and Successful Learning Patterns. Lang Speech Hear Serv Sch. 2017 Apr 20;48(2):108-124. doi: 10.1044/2017_LSHSS-16-0058.

    PubMed 28419188
  • Dimitrova N, Ozcaliskan S, Adamson LB. Parents' Translations of Child Gesture Facilitate Word Learning in Children with Autism, Down Syndrome and Typical Development. J Autism Dev Disord. 2016 Jan;46(1):221-231. doi: 10.1007/s10803-015-2566-7.

    PubMed 26362150
  • Hassink JM, Leonard LB. Within-treatment factors as predictors of outcomes following conversational recasting. Am J Speech Lang Pathol. 2010 Aug;19(3):213-24. doi: 10.1044/1058-0360(2010/09-0083). Epub 2010 Mar 22.

    PubMed 20308290
  • Roy BC, Frank MC, DeCamp P, Miller M, Roy D. Predicting the birth of a spoken word. Proc Natl Acad Sci U S A. 2015 Oct 13;112(41):12663-8. doi: 10.1073/pnas.1419773112. Epub 2015 Sep 21.

    PubMed 26392523
  • Oller DK, Niyogi P, Gray S, Richards JA, Gilkerson J, Xu D, Yapanel U, Warren SF. Automated vocal analysis of naturalistic recordings from children with autism, language delay, and typical development. Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13354-9. doi: 10.1073/pnas.1003882107. Epub 2010 Jul 19.

    PubMed 20643944
  • Xu D, Richards JA, Gilkerson J. Automated analysis of child phonetic production using naturalistic recordings. J Speech Lang Hear Res. 2014 Oct;57(5):1638-50. doi: 10.1044/2014_JSLHR-S-13-0037.

    PubMed 24824489

Questions about this trial

What is this clinical trial studying?

A Early Phase 1 study testing Babble Boot Camp in people with Classic Galactosemia and Speech Disorders in Children, run by Arizona State University at 1 site in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 6 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 23 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this phase mean?

Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Speech sound production accuracy (time frame: Through study completion, an average of 4 years 2 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03838016, which also lists 31 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jan 2026.

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