Recruiting

Observational Study

Sponsor:

Massachusetts General Hospital

Code:

NCT02831296

Conditions

Spinal Muscular Atrophy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

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.

Conditions

Spinal Muscular Atrophy

Study ID

NCT02831296

Start date

Feb, 2016

Status verified date

Aug, 2020

Primary completion date

Mar, 2022

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • 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) ]

Central Contacts and Locations

Central contacts

Maria S Herrmann, MD

617-312-8318msherrmann@mgh.harvard.edu

Emma Rodrigues

617-726-2996erodrigues3@mgh.harvard.edu

Locations

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Maria Herrmann

617-312-8318msherrmann@mgh.harvard.edu

Emma S Rodrigues, MD

617-312-8318erodrigues3@mgh.harvard.edu

Principal Investigator:

Kathryn J Swoboda, MD

More Information

Sponsor

Massachusetts General Hospital

Last update posted

Sep 2, 2020

Last verified

Aug, 2020

Keywords

  • SMA
  • Werdnig-Hoffmann disease
  • Kugelberg-Welander disease

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Massachusetts General Hospital on 2020-09-02.