Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and dev...
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| Published in | PloS one Vol. 13; no. 7; p. e0201004 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article Web Resource |
| Language | English |
| Published |
United States
Public Library of Science
26.07.2018
Public Library of Science (PLoS) |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression.
ClinicalTrials.gov (NCT02391831). |
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| AbstractList | Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. Trial Registration: ClinicalTrials.gov (NCT02391831). Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. ClinicalTrials.gov (NCT02391831). Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. Trial Registration: ClinicalTrials.gov (NCT02391831). Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression.Trial registrationClinicalTrials.gov (NCT02391831). Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. Trial Registration : ClinicalTrials.gov ( NCT02391831 ). Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression.Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression.ClinicalTrials.gov (NCT02391831).TRIAL REGISTRATIONClinicalTrials.gov (NCT02391831). |
| Audience | Academic |
| Author | De Waele, Liesbeth Hellbach, Nicole Schara, Ulrike Annoussamy, Mélanie Hogrel, Jean-Yves Gidaro, Teresa Toledano, Elie Laugel, Vincent Daron, Aurore Cances, Claude Baudin, Pierre-Yves Vuillerot, Carole Péréon, Yann Seabrook, Timothy Lowes, Linda Pax Gilabert, Stéphanie Cuisset, Jean-Marie Chabanon, Aurélie Seferian, Andreea Mihaela Carlier, Pierre Servais, Laurent Fournier, Emmanuel |
| AuthorAffiliation | 17 Service de Pédiatrie, CHU de Liège, Liège, Belgium 9 Centre de Référence des Maladies Neuromusculaires, Hôpital Roger Salengro, Lille, France UPMC, FRANCE 7 Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium 13 Consultants for Research in Imaging and Spectroscopy (CRIS), Tournai, Belgium 12 Paediatric neurology and neuromuscular center, University of Essen, Essen, Germany 2 Centre de Référence des Maladies Neuromusculaires, CHU de Liège, Belgium 16 Institut Roche, Paris, France 5 Unité de neurologie pédiatrique, Hôpital des Enfants, Toulouse, France 11 Neuropédiatrie/INSERM CIC 1434, CHU Strasbourg Hautepierre, Strasbourg, France 3 Centre de Référence Maladies Neuromusculaires Atlantique-Occitanie-Caraïbes, Hôpital Hôtel-Dieu, Nantes, France 14 Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA 4 Centre de Référence des Maladies Neuromusculaires, Hôpital des Enfants, Toulouse, France 6 Service de rééducation pédiatrique infantile”L’Escale”, |
| AuthorAffiliation_xml | – name: 15 Roche Pharmaceutical Research and Early Development, Roche Innovation Center, Basel, Switzerland – name: 7 Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium – name: 2 Centre de Référence des Maladies Neuromusculaires, CHU de Liège, Belgium – name: 5 Unité de neurologie pédiatrique, Hôpital des Enfants, Toulouse, France – name: 8 Department of Development and Regeneration, KU Leuven Kulak Kortijk, Kortrijk, Belgium – name: 4 Centre de Référence des Maladies Neuromusculaires, Hôpital des Enfants, Toulouse, France – name: 11 Neuropédiatrie/INSERM CIC 1434, CHU Strasbourg Hautepierre, Strasbourg, France – name: 6 Service de rééducation pédiatrique infantile”L’Escale”, Hôpital Mère Enfant, CHU-Lyon, Lyon, France – name: 12 Paediatric neurology and neuromuscular center, University of Essen, Essen, Germany – name: 9 Centre de Référence des Maladies Neuromusculaires, Hôpital Roger Salengro, Lille, France – name: 3 Centre de Référence Maladies Neuromusculaires Atlantique-Occitanie-Caraïbes, Hôpital Hôtel-Dieu, Nantes, France – name: 14 Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA – name: 17 Service de Pédiatrie, CHU de Liège, Liège, Belgium – name: 16 Institut Roche, Paris, France – name: 1 Institute of Myology, GH Pitié Salpêtrière, Paris, France – name: 13 Consultants for Research in Imaging and Spectroscopy (CRIS), Tournai, Belgium – name: UPMC, FRANCE – name: 10 Service de Neuropédiatrie, Hôpital Roger Salengro, Lille, France |
| Author_xml | – sequence: 1 givenname: Aurélie orcidid: 0000-0001-8740-6924 surname: Chabanon fullname: Chabanon, Aurélie – sequence: 2 givenname: Andreea Mihaela surname: Seferian fullname: Seferian, Andreea Mihaela – sequence: 3 givenname: Aurore surname: Daron fullname: Daron, Aurore – sequence: 4 givenname: Yann surname: Péréon fullname: Péréon, Yann – sequence: 5 givenname: Claude surname: Cances fullname: Cances, Claude – sequence: 6 givenname: Carole surname: Vuillerot fullname: Vuillerot, Carole – sequence: 7 givenname: Liesbeth surname: De Waele fullname: De Waele, Liesbeth – sequence: 8 givenname: Jean-Marie surname: Cuisset fullname: Cuisset, Jean-Marie – sequence: 9 givenname: Vincent surname: Laugel fullname: Laugel, Vincent – sequence: 10 givenname: Ulrike surname: Schara fullname: Schara, Ulrike – sequence: 11 givenname: Teresa surname: Gidaro fullname: Gidaro, Teresa – sequence: 12 givenname: Stéphanie surname: Gilabert fullname: Gilabert, Stéphanie – sequence: 13 givenname: Jean-Yves surname: Hogrel fullname: Hogrel, Jean-Yves – sequence: 14 givenname: Pierre-Yves surname: Baudin fullname: Baudin, Pierre-Yves – sequence: 15 givenname: Pierre surname: Carlier fullname: Carlier, Pierre – sequence: 16 givenname: Emmanuel surname: Fournier fullname: Fournier, Emmanuel – sequence: 17 givenname: Linda Pax surname: Lowes fullname: Lowes, Linda Pax – sequence: 18 givenname: Nicole surname: Hellbach fullname: Hellbach, Nicole – sequence: 19 givenname: Timothy surname: Seabrook fullname: Seabrook, Timothy – sequence: 20 givenname: Elie surname: Toledano fullname: Toledano, Elie – sequence: 21 givenname: Mélanie surname: Annoussamy fullname: Annoussamy, Mélanie – sequence: 22 givenname: Laurent surname: Servais fullname: Servais, Laurent |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30048507$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-04423305$$DView record in HAL |
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| Snippet | Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range... Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range... |
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| SubjectTerms | Adolescent Adult Analysis Assessments Atrophy Bioindicators Biology and Life Sciences Biomarkers Care and treatment Causes of Cell survival Child Child, Preschool Clinical trials Correlation analysis Development and progression Electromyography Feasibility studies Female Gene mutation Genetic aspects Human health sciences Humans Life Sciences Longitudinal Studies Lung Lung - physiopathology Male Medical research Medical services Medical treatment Medicine and Health Sciences Motors Muscle Strength Muscle Weakness Muscle Weakness - complications Muscles Mutation Neonates Neurologie Neurology Neuromuscular diseases Neurons and Cognition Outcome and process assessment (Medical care) Patients Pediatrics Pharmaceuticals Proteins Psychomotor Performance Pulmonary functions Pédiatrie Research and Analysis Methods Respiratory function Sciences de la santé humaine Sensitivity analysis Spinal Muscular Atrophies of Childhood Spinal Muscular Atrophies of Childhood - complications Spinal Muscular Atrophies of Childhood - epidemiology Spinal Muscular Atrophies of Childhood - physiopathology Spinal Muscular Atrophies of Childhood/complications/epidemiology/physiopathology Spinal muscular atrophy Young Adult |
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| Title | Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study |
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