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| ID | Type | Description | Link |
|---|---|---|---|
| US Department of Defense | Other Identifier | US Army Medical Research Acquisition Activity |
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| Name | Class |
|---|---|
| United States Department of Defense | FED |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Boys (0-3) of age diagnosed with DMD via new born screening |
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| Measure | Description | Time Frame |
|---|---|---|
| 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. | Baseline to 36 months |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Baseline to 36 months |
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Inclusion Criteria:
Exclusion Criteria:
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Males with genetically confirmed diagnosis of DMD (Duchenne Muscular Dystrophy)
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Kimberly A Hart, MA | Contact | 585-275-3767 | Kim_Hart@urmc.rochester.edu |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Rochester | Recruiting | Rochester | New York | 14618 | United States |
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| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| 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. | 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. | Baseline to 36 months |
| 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. | 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. | 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. | 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. | 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. | 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. | 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. | 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. | 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. | 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. | Baseline to 36 months |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |