Prospective Evaluation of Infants With Spinal Muscular Atrophy:
- Conditions
- Spinal Muscular Atrophy
- Registration Number
- NCT02831296
- Lead Sponsor
- Massachusetts General Hospital
- Brief Summary
SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3 and their healthy control siblings less than 36 months of age at the time of study enrollment. The main objective of the study is to prospectively collect longitudinal clinical outcomes and provide counseling and education to parents of newly diagnosed children. The study will assess the impact of current standard of care management paradigms and interventions on health outcomes in newly diagnosed SMA infants and children with type 1, 2 or 3 and age appropriate controls. There is no investigational drug and no specific intervention in this study. Rather, the investigators will document outcomes related to current therapies provided to participating subjects, and will educate participants about possible clinical trial opportunities.
- Detailed Description
Overview of data to be collected from enrolled infants followed longitudinally and entered into the NBSTRN Longitudinal Pediatric Data Resource
1. Past medical history relevant to pregnancy, delivery, complications in the immediate neonatal period, birth parameters, family history and any medical problems other than SMA (ie prematurity, etc)
2. Ongoing medical history indicating problems related to the following areas:
feeding, growth, respiratory status including use of cough assist and bilevel respiratory support, gastrointestinal issues, cardiac symptoms, neurologic symptoms or signs including muscle weakness, hospitalizations, ER visits, other adverse events
3. Assessment of dietary intake and use of nutritional supplements
4. Surgical history and ongoing documentation of assessments and need for g-tube, Nissen, tympanostomy, adenoidectomy/tonsillectomy or other airway surgeries, and orthopedic procedures
5. Caregiver obtained developmental history and documentation of newly acquired and/or loss of previously acquired gross motor skills at the time of each visit
6. Documentation of caregiver reported outcomes
7. Documentation of anthropometric measures, vital signs, general physical examination parameters
8. Neurological examination using standardized tools
9. Time to death, permanent invasive ventilation and/or need for \> 16 hours/day of bilevel respiratory support
10. Specific assessment of motor function as measured using age appropriate motor outcome measures such as: the Children's Hospital of Philadelphia Infant Tests of Neuromuscular Disorders (CHOP-INTEND), Test of Infant Motor Performance Screening Inventory, WHO motor milestones or others, and Hammersmith Functional Motor Scale for SMA Expanded for children 18 months and older
11. Electrophysiologic studies such as maximum ulnar compound muscle action potential (CMAP) amplitude and area
12. Documentation of range of motion, development of limb contractures and/or presence of scoliosis, lordosis, hip dysplasia or other orthopedic outcomes
13. Additional optional exploratory biomarker assessments
14. DEXA measurements to assess body composition and bone density
15. The option to enroll in an autopsy study at the time of death to contribute samples to a research biorepository
Normal control subjects such as unaffected siblings will undergo these same measurements, as applicable. Unaffected parents' participation will be limited to collection and banking of blood and cell lines.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 1000
- For affected subjects: genetic diagnosis of SMA
- For unaffected family members: parent or sibling of any age (without genetic diagnosis of SMA) of affected subject enrolled in study
- None
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Time to death and/or full time invasive ventilation or need for > 16 hours/day of bilevel respiratory support At each visit (every 1-6 months depending on age)
- Secondary Outcome Measures
Name Time Method Bone density Every 6 months DEXA scans
WHO Motor Milestones At each visit (every 1-6 months depending on age) Acquisition of gross motor milestones, per WHO guidelines
Body composition Every 6 months DEXA scans
Caregiver Questionnaire total score and subscores At each visit (every 1-3 months depending on age and SMA type) Hammersmith Functional Motor Scale - Expanded At each visit (every 1-6 months depending on age, beginning when deemed appropriate by PI/physical therapist) Assessment of motor function in subjects whose motor function exceeds that of an infant
Need for tube feeding At each visit (every 1-6 months depending on age) Maximum Ulnar CMAP Amplitude At each visit (every 1-6 months depending on age) Maximum ulnar compound muscle action potential (CMAP) amplitude and area
CHOP-INTEND At each visit (every 1-6 months depending on age, or until deemed no longer appropriate by PI/physical therapist) Assessment of motor function in infants and children functioning at an infant level
Hammersmith Infant Neurological Exam (HINE) At each visit (every 1-6 months depending on age, beginning when deemed appropriate by PI/physical therapist) Assessment of neuromotor function in infants, general neurologic exam in infants
Trial Locations
- Locations (1)
Massachusetts General Hospital
🇺🇸Boston, Massachusetts, United States