spinal muscular atrophy

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Information
Disease name
spinal muscular atrophy
Disease ID
DOID:12377
Description
"A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy." [url:http\://en.wikipedia.org/wiki/Spinal_muscular_atrophy, url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy, url:https\://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/26022173]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03032172 Active, not recruiting Phase 2 A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy March 3, 2017 December 27, 2024
NCT05035823 Active, not recruiting N/A COMMAND Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis April 27, 2022 August 2024
NCT05626855 Active, not recruiting Phase 3 Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab-ONYX April 17, 2023 January 1, 2027
NCT05475691 Active, not recruiting Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America August 17, 2022 January 30, 2025
NCT02386553 Active, not recruiting Phase 2 A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy May 18, 2015 December 31, 2024
NCT05632666 Active, not recruiting N/A Respiratory Muscle Training in Patients With Spinal Muscular Atrophy (SMA). February 2, 2021 January 31, 2023
NCT04888702 Active, not recruiting N/A Holter of Movement in Patients With SMA Undergoing Treatment. August 8, 2018 July 30, 2024
NCT04159987 Active, not recruiting N/A Monitoring to the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA® February 25, 2020 August 25, 2025
NCT04139343 Active, not recruiting Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA) August 10, 2018 December 31, 2024
NCT05522361 Active, not recruiting Phase 4 Risdiplam in Patients With Spinal Muscular Atrophy Previously Treated With Nusinersen November 6, 2022 June 15, 2026
NCT05337553 Active, not recruiting Phase 3 A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy July 6, 2022 January 2025
NCT05156320 Active, not recruiting Phase 3 Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam February 24, 2022 December 2024
NCT05117827 Active, not recruiting N/A Pediatric Powered Wheelchair Standing Devices: An Exploratory Study November 12, 2021 October 31, 2024
NCT05386680 Active, not recruiting Phase 3 Phase IIIb, Open-label, Multi-center Study to Evaluate Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally to Participants With SMA Who Discontinued Treatment With Nusinersen or Risdiplam January 12, 2023 December 3, 2024
NCT03955679 Approved for marketing AveXis Managed Access Program Cohort for Access to AVXS-101
NCT01522079 Completed N/A Spinal Muscular Atrophy and Cardiac Autonomic Function January 2011 October 2011
NCT01611610 Completed N/A Clinical Assessment of Spinal Muscular Atrophy Type II and III (SMA Europe) May 2011 May 2013
NCT01645787 Completed Phase 2/Phase 3 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients June 2012 September 2015
NCT01703988 Completed Phase 1/Phase 2 An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy October 31, 2012 January 31, 2015
NCT01754441 Completed Mechanisms of Cell Death in Spinal Muscular Atrophy May 2008 February 2020
NCT01780246 Completed Phase 1 An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701) January 31, 2013 February 28, 2014
NCT01839656 Completed Phase 2 A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA) May 8, 2013 August 21, 2017
NCT01931644 Completed At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions July 2013 April 2024
NCT01981915 Completed N/A Optimum Insufflation Capacity in NMD January 2011 March 2013
NCT02003937 Completed N/A Aerobic Training in Patients With Spinal Muscular Atrophy Type III September 2009 September 2010
NCT02052791 Completed Phase 1 An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246) January 31, 2014 January 31, 2017
NCT02123186 Completed Newborn Screening for Spinal Muscular Atrophy October 2013 October 2016
NCT00004771 Completed Phase 2 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease October 1992
NCT02268552 Completed Phase 1/Phase 2 An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA) April 2, 2015 December 29, 2022
NCT02292537 Completed Phase 3 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) November 24, 2014 February 20, 2017
NCT02428673 Completed N/A Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions December 9, 2015 March 23, 2018
NCT02594124 Completed Phase 3 A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies November 4, 2015 August 21, 2023
NCT02633709 Completed Phase 1 A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Risdiplam (RO7034067) Given by Mouth in Healthy Volunteers January 7, 2016 August 4, 2016
NCT02644668 Completed Phase 2 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy January 14, 2016 May 31, 2018
NCT02941328 Completed Phase 2 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 December 2015 January 2018
NCT02218593 Completed WREX Outcome Study July 2014 July 2015
NCT00061607 Completed Measuring Levels of SMN in Blood Samples of SMA Patients May 19, 2003 April 4, 2017
NCT00227266 Completed Phase 2 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy September 2005 November 2007
NCT00374075 Completed Phase 1 Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy September 2003 February 2006
NCT00443066 Completed Clinical Study of Spinal Muscular Atrophy May 2005 August 17, 2011
NCT00481013 Completed Phase 2 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy July 2007 November 2010
NCT00485511 Completed Phase 2/Phase 3 A Trial of Hydroxyurea in Spinal Muscular Atrophy June 2007 June 2009
NCT00528268 Completed Phase 1/Phase 2 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy July 2007 December 2013
NCT00756821 Completed A Pilot Study of Biomarkers for Spinal Muscular Atrophy October 2008 March 2009
NCT01028833 Completed Phase 2 Effects of Power Mobility on Young Children With Severe Motor Impairments November 2008 December 2012
NCT01033331 Completed Evaluation of the Muscle Strength and Motor Ability in Children With Spinal Muscle Atrophy(SMA) Treated With Valproic Acid July 2006 December 2008
NCT01059240 Completed SMN Copy Number Distribution in Mali, West Africa January 21, 2010 May 18, 2017
NCT01166022 Completed N/A Clinical Trial of Exercise in Patients With Spinal Muscular Atrophy (SMA) December 2010 August 2014
NCT01422200 Completed Phase 4 Flu Vaccine Study in Neuromuscular Patients 2011 August 2011 May 2012
NCT01494701 Completed Phase 1 An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) November 30, 2011 January 31, 2013
NCT03223051 Completed N/A Development of a Space Exploration Assessment for Children With Spinal Muscular Atrophy September 7, 2017 November 22, 2019
NCT03339830 Completed European Registry of Patients With Infantile-onset Spinal Muscular Atrophy October 10, 2017 November 15, 2020
NCT03505099 Completed Phase 3 Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 April 2, 2018 June 15, 2021
NCT03554343 Completed Sun May Arise on SMA : Newborn Screening of Spinal Muscular Atrophy in Belgium March 5, 2018 February 28, 2021
NCT03808233 Completed Reliability and Validity of the ACTIVE-mini for Quantifying Movement in Infants With Spinal Muscular Atrophy November 5, 2016 August 31, 2018
NCT03921528 Completed Phase 2 An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy April 22, 2019 February 28, 2024
NCT03970135 Completed N/A Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass May 29, 2017 November 30, 2017
NCT03988907 Completed Phase 1 A Drug-drug Interaction Study With Risdiplam Multiple Dose and Midazolam in Healthy Participants June 18, 2019 September 29, 2019
NCT04115475 Completed N/A New Imaging Biomarkers for Muscular Diseases - Multispectral Optoacoustic Imaging in Spinal Muscular Atrophy November 7, 2019 January 30, 2020
NCT04228718 Completed The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs July 1, 2019 May 1, 2020
NCT04335942 Completed N/A Characterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor September 30, 2021 June 1, 2023
NCT04404764 Completed Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study May 27, 2020 April 23, 2021
NCT04587492 Completed Metabolomics of Children With SMA January 1, 2017 September 30, 2020
NCT04591678 Completed Adults With SMA Treated With Nusinersen October 1, 2018 June 25, 2021
NCT04602195 Completed Responsiveness and Validation Study of MFM-32 in SMA Patients Treated With Nusinersen January 19, 2021 November 10, 2023
NCT04851873 Completed Phase 3 Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) September 8, 2021 June 13, 2023
NCT05109637 Completed N/A A Study to Assess the Clinical Validity of Konectom™ in Adults Living With Neuromuscular Disorders February 10, 2022 July 25, 2023
NCT05237544 Completed Newborn Screening for Spinal Muscular Atrophy (SMA) - a Proof of Principle Study Using Anonymised Blood Spots. November 11, 2019 March 30, 2021
NCT05644899 Completed Ultrasound-assisted or Landmark-based Intrathecal Administration of Nusinersen in Adult Patients With Spinal Muscular Atrophy (The EchoSpin Study) December 16, 2022 January 10, 2023
NCT06027385 Completed N/A Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy January 15, 2018 September 30, 2022
NCT06178393 Completed Real-World Use of Novel Treatments in Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Chart Review of Pediatric SMA Patients Outside of the United States May 5, 2022 December 30, 2022
NCT05539456 Enrolling by invitation Reliability and Validity of the Turkish Version of the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old September 1, 2022 November 1, 2022
NCT05521217 Enrolling by invitation Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy August 26, 2022 October 15, 2022
NCT03655223 Enrolling by invitation Early Check: Expanded Screening in Newborns October 15, 2018 December 31, 2025
NCT06396325 Not yet recruiting N/A A Registry Based Randomized-Controlled Trial of an Upper Limb Exergaming Intervention for Children and Adolescents With Spinal Muscular Atrophy June 1, 2024 December 31, 2027
NCT06288230 Not yet recruiting Phase 1/Phase 2 An Open Label Study of Gene Therapy Product in Spinal Muscular Atrophy Patients March 1, 2024 March 1, 2027
NCT06300996 Not yet recruiting N/A Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb September 2024 September 2029
NCT06321965 Not yet recruiting N/A Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy April 1, 2024 October 1, 2027
NCT05931211 Not yet recruiting Motor Function and Activity of Daily Life in Spinal Muscular Atrophy June 30, 2023 December 31, 2024
NCT05866939 Not yet recruiting Development of a Multidisciplinary Network for Clinical and Laboratory Research for SMA June 30, 2023 June 30, 2025
NCT04833348 Recruiting N/A Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies March 20, 2021 March 2027
NCT04177134 Recruiting French Register of Patients With Spinal Muscular Atrophy January 31, 2020 January 31, 2029
NCT04292574 Recruiting UK SMA Patient Registry July 13, 2008 December 31, 2023
NCT05994950 Recruiting A Review of the Management and Outcomes of Children With SMA in the West Midlands During 2017-2022 December 6, 2023 December 31, 2024
NCT04576494 Recruiting N/A Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms) January 24, 2022 June 2025
NCT06167954 Recruiting N/A Safety and Usability of a Robotic Gait Device for Children and Adolescents With Neurological or Neuromuscular Disease in Their Natural Environment December 4, 2023 March 8, 2024
NCT06419322 Recruiting N/A Acceptability, Feasibility, Safety and Efficacy of a Optimized Rehabilitation Program for Treated Patients With Spinal Muscular Atrophy (SMA). June 2024 December 2026
NCT04690998 Recruiting N/A Outcome Measures and Biomarkers in a Cohort of Spinal Muscular Atrophy Type III/ IV Patients July 13, 2021 July 13, 2025
NCT04773470 Recruiting N/A Quantitative Assessment of Dysphagia in Spinal Muscle Atrophy February 1, 2022 April 1, 2024
NCT04798378 Recruiting N/A NuroSleeve Powered Brace & Stimulation System to Restore Arm Function April 16, 2020 December 2025
NCT05341453 Recruiting N/A Hippotherapy in Children With Spinal Muscular Atrophy April 22, 2022 October 22, 2024
NCT05366465 Recruiting Quality of Life and Participation of the Adult With Spinal Muscular Atrophy in France October 19, 2022 October 19, 2024
NCT05409079 Recruiting N/A Schulze Muscular Dystrophy Ability Clinical Study May 26, 2022 June 30, 2023
NCT05518773 Recruiting Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy December 15, 2022 September 1, 2025
NCT05589987 Recruiting N/A Spinal Muscular Atrophy on Wheels, Using Power Mobility October 1, 2022 February 1, 2024
NCT05638750 Recruiting N/A Outpatient Rehabilitation Intervention for Young Children With SMA January 1, 2022 December 2024
NCT06368076 Recruiting N/A High-intensity Interval Training in Patients With Spinal Muscular Atrophy January 9, 2024 January 2025
NCT05663008 Recruiting Impairments of Neuro-muscular Communication in Motor-Neuron Disease: A Bio-Marker for Early and Personalised Diagnosis October 1, 2015 September 30, 2027
NCT05712330 Recruiting N/A Exploratory Study of Respiratory Bacterial Infections or Superinfections and Colonizations in Patients With Spinal Muscular Atrophy Under NIV January 24, 2023 September 2024
NCT03217578 Recruiting Neonatal Spinal Muscular Atrophy (SMA) Screening September 1, 2017 December 31, 2030
NCT05760209 Recruiting SMN Circular RNAs as Potential New Targets and Biomarkers for SMA July 22, 2021 July 21, 2024
NCT05761262 Recruiting SMN Circular RNAs as Potential Biomarkers for the Therapeutic Response to Nusinersen in Spinal Muscular Atrophy Patients December 13, 2019 April 13, 2024
NCT05768048 Recruiting Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments November 28, 2022 November 27, 2027
NCT03520179 Recruiting Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA) December 17, 2013 August 12, 2023
NCT05769465 Recruiting MAP THE SMA: a Machine-learning Based Algorithm to Predict THErapeutic Response in Spinal Muscular Atrophy April 1, 2023 April 1, 2026
NCT03709784 Recruiting Spinraza in Adult Spinal Muscular Atrophy August 16, 2018 January 1, 2025
NCT05779956 Recruiting Personalized Medicine for SMA: a Translational Project September 1, 2021 August 31, 2024
NCT05794139 Recruiting Phase 2 Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy September 21, 2023 December 2024
NCT05824169 Recruiting Phase 1/Phase 2 Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients February 25, 2023 December 2025
NCT05866419 Recruiting N/A Study of an Intrathecal Port and Catheter System for Subjects With Spinal Muscular Atrophy November 27, 2023 March 2027
NCT04010604 Recruiting A Registered Cohort Study on SMA July 1, 2019 December 31, 2049
NCT02532244 Recruiting Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases June 2015 December 2025
NCT05067790 Recruiting Phase 3 A Study to Evaluate Higher Dose (HD) Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Previously Treated With Risdiplam January 21, 2022 June 14, 2027
NCT06310421 Recruiting Spinal Muscular Atrophy Neonatal Screening Program October 16, 2023 May 31, 2026
NCT05219487 Recruiting Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration October 13, 2021 December 31, 2024
NCT05232929 Recruiting Phase 4 Long-Term Follow-Up Study of Risdiplam in Participants With Spinal Muscular Atrophy (SMA) June 14, 2022 June 1, 2029
NCT02550691 Terminated N/A Identification of a Biomarker Associated With Cis-duplication of the SMN1 Gene December 15, 2015 July 4, 2016
NCT02462759 Terminated Phase 2 A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA). August 19, 2015 September 24, 2018
NCT03381729 Terminated Phase 1 Study of Intrathecal Administration of Onasemnogene Abeparvovec-xioi for Spinal Muscular Atrophy December 14, 2017 November 18, 2021
NCT01547871 Terminated Infants With Spinal Muscular Atrophy Type I February 7, 2012 April 14, 2016
NCT02193074 Terminated Phase 3 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy August 19, 2014 November 21, 2016
NCT04262570 Unknown status N/A Evaluation of Therapeutic Response in Spinal Muscular Atrophy Using Multispectral Optoacoustic Tomography (MSOT) and Magnetic Resonance Imaging (MRI) February 25, 2020 February 2022
NCT02124616 Unknown status National Registry for Egyptian Pediatric Neuromuscular Diseases April 2014 December 2020
NCT02831296 Unknown status Prospective Evaluation of Infants With Spinal Muscular Atrophy: February 2016
NCT04644393 Unknown status Responsiveness and Validation Study of MFM-20 in SMA Patients Treated With Nusinersen November 2020 March 2021
NCT01671384 Unknown status Phase 3 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy August 2013 December 2016
NCT03689660 Unknown status N/A Feasibility of Virtual Reality in Children With Neuromuscular Disease, Effectiveness of Virtual Reality and Biofeedback February 1, 2019 October 1, 2023
NCT03300869 Unknown status Natural History of Types 2 and 3 SMA in Taiwan September 1, 2017 December 2019
NCT00155168 Unknown status Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System April 2004
NCT00154960 Unknown status Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. June 2004
NCT05110885 Unknown status Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices November 2021 January 2022
NCT02227407 Unknown status N/A Reciprocating Gait Orthoses for Paraplegia Patients August 2013 January 2016
NCT05187260 Unknown status Antisense Oligonucleotide for Spinal Muscular Atrophy January 1, 2022 January 31, 2024
NCT00961103 Unknown status Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) September 2009 December 2009
NCT04859179 Unknown status Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women March 10, 2021 March 2022
NCT05041114 Withdrawn N/A SWITCH II Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis April 21, 2022 November 30, 2022
NCT02235090 Withdrawn N/A Study of Feasibility to Reliably Measure Functional Abilities' Changes in Nonambulant Neuromuscular Patients Without Trial Site Visiting October 2016 October 30, 2017
NCT04050852 Withdrawn Early Phase 1 Pulmonary Function Test Changes and Respiratory Muscle Strength Trends in Spinal Muscular Atrophy Patients Receiving Nusinersen Treatments July 17, 2019 April 1, 2021
Disase is a (Disease Ontology)
DOID:231
Cross Reference ID (Disease Ontology)
GARD:7674
Cross Reference ID (Disease Ontology)
ICD10CM:G12.9
Cross Reference ID (Disease Ontology)
ICD9CM:335.1
Cross Reference ID (Disease Ontology)
MESH:D009134
Cross Reference ID (Disease Ontology)
NCI:C85075
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:5262007
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0026847
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0007269