The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy

N/ANot Yet RecruitingNCT07092540

University of Rochester105 enrolled

Overview

The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.

Study Type

OBSERVATIONAL

Enrollment

105

Conditions

Duchenne Muscular Dystrophy (DMD)

Eligibility

Sex: MALEMin age: 0 DaysMax age: 3 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Male child between birth and 3.0 years of age at time of enrollment. * A confirmed and documented pathogenic or likely pathogenic variant in the DMD gene following a positive newborn screen. * Ability of parent/guardian to understand and provide written informed consent (signing Parental Permission and Consent Form). * Willingness of parent/guardian to comply with the protocol Schedule of Activities, including all study site visits. Exclusion Criteria: * Female * Presence of any confirmed genetic disease, other than DMD, that could impact early development, which, in the opinion of the PI, may confound interpretation of developmental progress. * Presence of any significant medical condition (i.e., extreme prematurity, hypoxic ischemic encephalopathy) which, in the opinion of the PI, may confound interpretation of the clinical course of DMD. * Inability/unwillingness of parent/guardian to provide written permission (sign PPF) or to comply with the protocol Schedule of Activities.

Outcomes

Primary Outcomes

Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Gross Motor Standard Score

The Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4), Gross Motor domain measures age-appropriate motor abilities such as crawling, standing, and walking in children aged 1 to 42 months. The Gross Motor Standard Score is derived by converting raw scores to age-normed standard scores (mean = 100; standard deviation = 15). Higher scores indicate better gross motor development.

Time frame: Baseline to 36 months

Secondary Outcomes

Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Cognitive Standard Score

The Bayley-4 Cognitive domain measures early cognitive development, including attention, memory, and problem-solving abilities. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores reflect better cognitive performance.

Time frame: Baseline to 36 months

Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Fine Motor Standard Score

The Bayley-4 Fine Motor domain assesses hand and finger coordination tasks such as reaching and grasping. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores indicate better fine motor development.

Time frame: Baseline to 36 months

Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Expressive Language Standard Score

The Bayley-4 Expressive Language Standard Score is derived by converting raw scores to age-normed standard scores based on normative data for children ages 1 to 42 months. Standard scores range from 40 to 160, with a mean of 100 and a standard deviation of 15. Higher scores indicate more advanced expressive language abilities.

Time frame: Baseline to 36 months

Central Contacts

Kimberly A Hart, MA

CONTACT

585-275-3767 Kim_Hart@urmc.rochester.edu

Data from ClinicalTrials.gov

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Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Receptive Language Standard Score

The Bayley-4 Receptive Language domain assesses a child's ability to understand spoken language. Scores range from 40 to 160 (mean = 100; SD = 15). Higher scores reflect better language comprehension.

Time frame: Baseline to 36 months

Mean Change in World Health Organization Motor Milestone (WHOMM) Checklist Score

The WHO Motor Milestone (WHOMM) checklist records developmental attainment of 6 gross motor milestones, scored as achieved or not achieved. The score reflects the number of milestones achieved at each visit. Higher scores indicate greater motor milestone attainment for age.

Time frame: Baseline to 36 months

Percentage of Participants Receiving Early Intervention Services

This outcome measures the proportion of participants who have initiated any early intervention service (e.g., physical, occupational, or speech therapy), based on caregiver report or medical record review.

Time frame: Baseline to 36 months

Age at Initiation of Early Intervention Services

This outcome records the age (in months) at which participants first received early intervention services, based on caregiver report or documentation in the medical record.

Time frame: Baseline to 36 months

Percentage of Participants Initiating Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment

This outcome measures the proportion of participants who began any DMD-targeted pharmacologic treatment (e.g., corticosteroids, exon-skipping therapies) during the study period, based on caregiver report or medical records.

Time frame: Baseline to 36 months

Age at Initiation of Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment

This outcome records the age (in months) at which each participant initiated pharmacologic treatment for Duchenne Muscular Dystrophy, as reported by caregivers or documented in the medical record.

Time frame: Baseline to 36 months

Percentage of Participants With a Neurobehavioral Diagnosis

This outcome reports the percentage of participants diagnosed with a neurobehavioral condition (e.g., autism spectrum disorder, ADHD) during the study, based on caregiver report or medical record review.

Time frame: Baseline to 36 months

Age at First Neurobehavioral Diagnosis

This outcome records the age (in months) at which each participant received their first neurobehavioral diagnosis, as determined by caregiver report or medical record.

Time frame: Baseline to 36 months

Mean Change in Duchenne Muscular Dystrophy Caregiver Reported Health Index Short Form (DMD-HI-SF) Score

The DMD Caregiver Reported Health Index Short Form (DMD-HI-SF) is a caregiver-reported questionnaire assessing burden related to the child's health. Total score is derived by summing item responses and converting to a standardized T-score. Higher scores indicate greater symptom burden.

Time frame: Baseline to 36 months

Baseline North Star Ambulatory Assessment (NSAA) Total Score at Age 3 Years

The NSAA is a 17-item clinician-rated motor function scale validated for ambulant children with DMD. Each item is scored from 0 (unable) to 2 (normal), for a total score range of 0 to 34. A single NSAA total score will be recorded at the time of the participant's first assessment at age 3 years.

Time frame: Baseline to 36 months