Prospective Evaluation of Infants With Spinal Muscular Atrophy:
Prospective Evaluation of Infants With Spinal Muscular Atrophy:
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.
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.
Inclusion Criteria:

 -  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

 Exclusion Criteria:

 -  None