Last updated on March 2019

Prospective Evaluation of Infants With Spinal Muscular Atrophy:

Brief description of study

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 Study 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

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.

Clinical Study Identifier: NCT02831296

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Recruitment Status: Open

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