Prospective Evaluation of Infants With Spinal Muscular Atrophy: (SPOTSMA)
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|ClinicalTrials.gov Identifier: NCT02831296|
Recruitment Status : Unknown
Verified August 2020 by Kathryn J Swoboda, Massachusetts General Hospital.
Recruitment status was: Recruiting
First Posted : July 13, 2016
Last Update Posted : September 2, 2020
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|Condition or disease|
|Spinal Muscular Atrophy|
Overview of data to be collected from enrolled infants followed longitudinally and entered into the NBSTRN Longitudinal Pediatric Data Resource
- 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)
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
- Assessment of dietary intake and use of nutritional supplements
- Surgical history and ongoing documentation of assessments and need for g-tube, Nissen, tympanostomy, adenoidectomy/tonsillectomy or other airway surgeries, and orthopedic procedures
- Caregiver obtained developmental history and documentation of newly acquired and/or loss of previously acquired gross motor skills at the time of each visit
- Documentation of caregiver reported outcomes
- Documentation of anthropometric measures, vital signs, general physical examination parameters
- Neurological examination using standardized tools
- Time to death, permanent invasive ventilation and/or need for > 16 hours/day of bilevel respiratory support
- 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
- Electrophysiologic studies such as maximum ulnar compound muscle action potential (CMAP) amplitude and area
- Documentation of range of motion, development of limb contractures and/or presence of scoliosis, lordosis, hip dysplasia or other orthopedic outcomes
- Additional optional exploratory biomarker assessments
- DEXA measurements to assess body composition and bone density
- 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.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||1000 participants|
|Target Follow-Up Duration:||10 Years|
|Official Title:||Prospective Evaluation of Infants With Spinal Muscular Atrophy: SPOT SMA|
|Study Start Date :||February 2016|
|Estimated Primary Completion Date :||March 2022|
Affected Subjects <36 Mos. of Age
Infants and children 36 months of age and younger at time of enrollment who have been genetically diagnosed with Spinal Muscular Atrophy (SMA)
The affected cohort will receive coordinated, multidisciplinary care including dietary intervention, respiratory monitoring, physical therapy, and genetic counseling. They will also undergo assessment of motor function, muscle action potential measurement, and body composition, as well as blood sample collection for DNA and biomarkers, and optional research skin biopsy.
Unaffected Subjects <36 Mos. of Age
Infants and children 36 months of age and younger who are not affected with SMA
The unaffected group will undergo the same assessments as the affected group.
Unaffected Family Members
Parents and siblings of any age, without genetic diagnosis of SMA, who have family members enrolled in either of the Affected Infants/Children/Adults cohorts.
The unaffected siblings will undergo the same assessments as the affected group, where age-appropriate. Unaffected parents' participation will be limited to blood sample collection and optional research skin biopsy.
Affected Subjects >36 Mos. of Age
Children and adults >36 months at time of enrollment who have been genetically diagnosed with Spinal Muscular Atrophy.
The older affected cohort will receive coordinated, multidisciplinary care including dietary intervention, respiratory monitoring, physical therapy, and genetic counseling. They will also undergo assessment of motor function, muscle action potential measurement, and body composition, as well as blood sample collection for DNA and biomarkers, and optional research skin biopsy. Where applicable, these participants will be considered Affected Control Subjects.
- Time to death and/or full time invasive ventilation or need for > 16 hours/day of bilevel respiratory support [ Time Frame: At each visit (every 1-6 months depending on age) ]
- Maximum Ulnar CMAP Amplitude [ Time Frame: At each visit (every 1-6 months depending on age) ]Maximum ulnar compound muscle action potential (CMAP) amplitude and area
- CHOP-INTEND [ Time Frame: 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
- WHO Motor Milestones [ Time Frame: At each visit (every 1-6 months depending on age) ]Acquisition of gross motor milestones, per WHO guidelines
- Hammersmith Functional Motor Scale - Expanded [ Time Frame: 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
- Hammersmith Infant Neurological Exam (HINE) [ Time Frame: 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
- Body composition [ Time Frame: Every 6 months ]DEXA scans
- Bone density [ Time Frame: Every 6 months ]DEXA scans
- Need for tube feeding [ Time Frame: At each visit (every 1-6 months depending on age) ]
- Caregiver Questionnaire total score and subscores [ Time Frame: At each visit (every 1-3 months depending on age and SMA type) ]
Biospecimen Retention: Samples With DNA
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
|Sampling Method:||Non-Probability Sample|
- 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02831296
|Contact: Maria S Herrmann, MDfirstname.lastname@example.org|
|Contact: Emma Rodriguesemail@example.com|
|United States, Massachusetts|
|Massachusetts General Hospital||Recruiting|
|Boston, Massachusetts, United States, 02114|
|Contact: Maria Herrmann 617-312-8318 firstname.lastname@example.org|
|Contact: Emma S Rodrigues, MD 617-312-8318 email@example.com|
|Principal Investigator: Kathryn J Swoboda, MD|
|Principal Investigator:||Kathryn J Swoboda, MD||Massachusetts General Hospital|
|Responsible Party:||Kathryn J Swoboda, Katherine B. Sims MD Endowed Chair in Neurogenetics, Massachusetts General Hospital|
|Other Study ID Numbers:||
R01HD069045 ( U.S. NIH Grant/Contract )
|First Posted:||July 13, 2016 Key Record Dates|
|Last Update Posted:||September 2, 2020|
|Last Verified:||August 2020|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Yes|
The National Institute of Child Health and Human Development has a contract with the American College of Medical Genomics and the Newborn Screening Translational Research Network (NBSTRN) in collaboration with the bioinformatics group at the Cincinnati Children's Hospital to develop a national database for data capture and management for all the follow-up data to be collected for those who agree to participate in the research study. The investigators will share deidentified data with the NBSTRN database.
The investigators will also submit relevant associated data (e.g., phenotype data) to an NIH-designated data repository in a timely manner, as indicated by the NIH Genomic Data Sharing policy.
Aggregate Data will be available for submission/general research use.
Clinical Study Report (CSR)
Muscular Atrophy, Spinal
Pathological Conditions, Anatomical
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease