Prospective Evaluation of Infants With Spinal Muscular Atrophy:
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology, Neurology, Orthopedic |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 3/8/2019 |
| Start Date: | February 2016 |
| Contact: | Maria S Herrmann, MD |
| Email: | ktrautman@mgh.harvard.edu |
| Phone: | 617-312-8318 |
Prospective Evaluation of Infants With Spinal Muscular Atrophy: SPOT SMA
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.
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.
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:
We found this trial at
1
site
185 Cambridge Street
Boston, Massachusetts 02114
Boston, Massachusetts 02114
617-724-5200
Principal Investigator: Kathryn J Swoboda, MD
Phone: 617-724-2523
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