Spinal Muscular AtrophySPOTSMANCT02831296
Prospective Evaluation of Infants With Spinal Muscular Atrophy:
An observational study of Spinal Muscular Atrophy, run by Massachusetts General Hospital at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2016to Mar 2022
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Pre-symptomatic or newly diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3; OR unaffected parents and siblings of enrolled infants and children with SMA; OR control subjects: infants and children who are not affected with SMA
Who may be able to join
- 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
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02114
Maria Herrmann, 617-312-8318, msherrmann@mgh.harvard.edu
Emma S Rodrigues, MD, 617-312-8318, erodrigues3@mgh.harvard.edu
About this study
Official title: 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.
Read the detailed description
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.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- SMA, Werdnig-Hoffmann disease, Kugelberg-Welander disease
- Medical subject headings
- Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Time to death and/or full time invasive ventilation or need for > 16 hours/day of bilevel respiratory support
Measured: At each visit (every 1-6 months depending on age)
Secondary outcomes (9)
Maximum Ulnar CMAP Amplitude
Maximum ulnar compound muscle action potential (CMAP) amplitude and area
Measured: At each visit (every 1-6 months depending on age)
CHOP-INTEND
Assessment of motor function in infants and children functioning at an infant level
Measured: At each visit (every 1-6 months depending on age, or until deemed no longer appropriate by PI/physical therapist)
WHO Motor Milestones
Acquisition of gross motor milestones, per WHO guidelines
Measured: At each visit (every 1-6 months depending on age)
Hammersmith Functional Motor Scale - Expanded
Assessment of motor function in subjects whose motor function exceeds that of an infant
Measured: At each visit (every 1-6 months depending on age, beginning when deemed appropriate by PI/physical therapist)
Hammersmith Infant Neurological Exam (HINE)
Assessment of neuromotor function in infants, general neurologic exam in infants
Measured: At each visit (every 1-6 months depending on age, beginning when deemed appropriate by PI/physical therapist)
Body composition
DEXA scans
Measured: Every 6 months
Bone density
DEXA scans
Measured: Every 6 months
Need for tube feeding
Measured: At each visit (every 1-6 months depending on age)
Caregiver Questionnaire total score and subscores
Measured: At each visit (every 1-3 months depending on age and SMA type)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jul 2016 (estimated)
- Study startFeb 2016
- Primary completionMar 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (22)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), University of Utah, University of Massachusetts, Worcester, ARUP Laboratories, Newborn Screening Translational Research Network, American College of Medical Genetics and Genomics, Children's Hospital Medical Center, Cincinnati
- Responsible party
- Principal investigator, Kathryn J Swoboda, Massachusetts General Hospital
- Investigators
- Kathryn J Swoboda, MD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02831296
- Sponsor's protocol ID
- 2015P001934
- Other IDs
- R01HD069045
- Acronym
- SPOTSMA
- Status last verified
- Aug 2020
- First submitted
- 1 Jul 2016
- Last updated
- 2 Sep 2020
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- 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.
Publications
Bitton A, Martin C, Landon BE. A nationwide survey of patient centered medical home demonstration projects. J Gen Intern Med. 2010 Jun;25(6):584-92. doi: 10.1007/s11606-010-1262-8.
PubMed 20467907Butchbach ME, Rose FF Jr, Rhoades S, Marston J, McCrone JT, Sinnott R, Lorson CL. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010 Jan 1;391(1):835-40. doi: 10.1016/j.bbrc.2009.11.148. Epub 2009 Nov 27.
PubMed 19945425Butchbach ME, Singh J, Thorsteinsdottir M, Saieva L, Slominski E, Thurmond J, Andresson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet. 2010 Feb 1;19(3):454-67. doi: 10.1093/hmg/ddp510. Epub 2009 Nov 6.
PubMed 19897588Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004 Nov;114(5):e548-53. doi: 10.1542/peds.2004-0668. Epub 2004 Oct 18.
PubMed 15492357Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M. Survival in SMA type I: a prospective analysis of 34 consecutive cases. Neuromuscul Disord. 2008 Jul;18(7):541-4. doi: 10.1016/j.nmd.2008.05.008. Epub 2008 Jun 24.
PubMed 18579378Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3.
PubMed 7813012Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med. 2012 May;13(3):e161-5. doi: 10.1097/PCC.0b013e3182388ad1.
PubMed 22198810Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. doi: 10.1073/pnas.96.11.6307.
PubMed 10339583Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004.
PubMed 11839954Mannaa MM, Kalra M, Wong B, Cohen AP, Amin RS. Survival probabilities of patients with childhood spinal muscle atrophy. J Clin Neuromuscul Dis. 2009 Mar;10(3):85-9. doi: 10.1097/CND.0b013e318190310f.
PubMed 19258855Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007 Nov 13;69(20):1931-6. doi: 10.1212/01.wnl.0000290830.40544.b9.
PubMed 17998484Rudnik-Schoneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. Clin Genet. 2009 Aug;76(2):168-78. doi: 10.1111/j.1399-0004.2009.01200.x.
PubMed 19780763Stange KC, Nutting PA, Miller WL, Jaen CR, Crabtree BF, Flocke SA, Gill JM. Defining and measuring the patient-centered medical home. J Gen Intern Med. 2010 Jun;25(6):601-12. doi: 10.1007/s11606-010-1291-3.
PubMed 20467909Stille C, Turchi RM, Antonelli R, Cabana MD, Cheng TL, Laraque D, Perrin J; Academic Pediatric Association Task Force on Family-Centered Medical Home. The family-centered medical home: specific considerations for child health research and policy. Acad Pediatr. 2010 Jul-Aug;10(4):211-7. doi: 10.1016/j.acap.2010.05.002. No abstract available.
PubMed 20605546Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005 May;57(5):704-12. doi: 10.1002/ana.20473.
PubMed 15852397
Study at a glance
From the registry record, last updated by the sponsor on 2 Sep 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Evaluation of Infants With Spinal Muscular Atrophy: SPOT SMA
- ClinicalTrials.gov ID
- NCT02831296
- Acronym / sponsor ID
- SPOTSMA / 2015P001934
- Conditions
- Spinal Muscular Atrophy
- Keywords
- SMA, Werdnig-Hoffmann disease, Kugelberg-Welander disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), University of Utah, University of Massachusetts, Worcester, ARUP Laboratories, Newborn Screening Translational Research Network, American College of Medical Genetics and Genomics, Children's Hospital Medical Center, Cincinnati
- Study start
- Feb 2016
- Primary completion
- Mar 2022 (estimated)
- First posted
- 13 Jul 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 description
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pre-symptomatic or newly diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3; OR unaffected parents and siblings of enrolled infants and children with SMA; OR control subjects: infants and children who are not affected with SMA
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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)
9 secondary outcomes
Maximum Ulnar CMAP Amplitude
Time frame: At each visit (every 1-6 months depending on age)
CHOP-INTEND
Time frame: At each visit (every 1-6 months depending on age, or until deemed no longer appropriate by PI/physical therapist)
WHO Motor Milestones
Time frame: At each visit (every 1-6 months depending on age)
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)
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)
Body composition
Time frame: Every 6 months
Bone density
Time frame: Every 6 months
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)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Sep 2020.
- Background: PubMed 20467907Bitton A, Martin C, Landon BE. A nationwide survey of patient centered medical home demonstration projects. J Gen Intern Med. 2010 Jun;25(6):584-92. doi: 10.1007/s11606-010-1262-8.
- Background: PubMed 19945425Butchbach ME, Rose FF Jr, Rhoades S, Marston J, McCrone JT, Sinnott R, Lorson CL. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010 Jan 1;391(1):835-40. doi: 10.1016/j.bbrc.2009.11.148. Epub 2009 Nov 27.
- Background: PubMed 19897588Butchbach ME, Singh J, Thorsteinsdottir M, Saieva L, Slominski E, Thurmond J, Andresson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet. 2010 Feb 1;19(3):454-67. doi: 10.1093/hmg/ddp510. Epub 2009 Nov 6.
- Background: PubMed 15492357Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004 Nov;114(5):e548-53. doi: 10.1542/peds.2004-0668. Epub 2004 Oct 18.
- Background: PubMed 18579378Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M. Survival in SMA type I: a prospective analysis of 34 consecutive cases. Neuromuscul Disord. 2008 Jul;18(7):541-4. doi: 10.1016/j.nmd.2008.05.008. Epub 2008 Jun 24.
- Background: PubMed 7813012Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3.
- Background: PubMed 22198810Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med. 2012 May;13(3):e161-5. doi: 10.1097/PCC.0b013e3182388ad1.
- Background: PubMed 10339583Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. doi: 10.1073/pnas.96.11.6307.
- Background: PubMed 11839954Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004.
- Background: PubMed 19258855Mannaa MM, Kalra M, Wong B, Cohen AP, Amin RS. Survival probabilities of patients with childhood spinal muscle atrophy. J Clin Neuromuscul Dis. 2009 Mar;10(3):85-9. doi: 10.1097/CND.0b013e318190310f.
- Background: PubMed 17998484Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007 Nov 13;69(20):1931-6. doi: 10.1212/01.wnl.0000290830.40544.b9.
- Background: PubMed 19780763Rudnik-Schoneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. Clin Genet. 2009 Aug;76(2):168-78. doi: 10.1111/j.1399-0004.2009.01200.x.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kathryn J Swoboda, MD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Massachusetts General Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 2 Sep 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Maria S Herrmann, MD (617-312-8318, msherrmann@mgh.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02831296, which also lists 22 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Sep 2020.