Quality of Life and Participation of the Adult With Spinal Muscular Atrophy in France

checkorphan
Learn more about:
Spinal muscular atrophy
Related Access Program
Pfizer – Non Small Cell Lung Cancer With ALK or ROS1 Rearrangement Pfizer – Non Small Cell Lung Cancer Harboring Molecular Alterations Biogen – Infantile-onset Spinal Muscular Atrophy Novartis Pharmaceuticals – Non-small Cell Lung Cancer (NSCLC) Biogen – Infantile-onset Spinal Muscular Atrophy (SMA)
Related Clinical Trial
COMMAND Early Feasibility Study (EFS) Quality of Life and Participation of the Adult With Spinal Muscular Atrophy in France Virtual Reality for the Mitigation of Anxiety During Intrathecal Administration in Participants With Spinal Muscular Atrophy A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy Long-term Follow-Up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials Hippotherapy in Children With Spinal Muscular Atrophy Newborn Screening for Spinal Muscular Atrophy (SMA) – a Proof of Principle Study Using Anonymised Blood Spots. Long-Term Follow-Up Study of Risdiplam in Participants With Spinal Muscular Atrophy (SMA) Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration Pediatric Powered Wheelchair Standing Devices: An Exploratory Study Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices A Study to Investigate the Safety and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Ambulatory Children With Spinal Muscular Atrophy A Study to Assess the Clinical Validity of Konectom™ in Adults Living With Neuromuscular Disorders Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA) A Study to Evaluate Higher Dose (HD) Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Previously Treated With Risdiplam Holter of Movement in Patients With SMA Undergoing Treatment. Prenatal Carrier Screening for Spinal Muscular Atrophy Among Thai Pregnant Women Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies Responsiveness and Validation Study of MFM-20 in SMA Patients Treated With Nusinersen Responsiveness and Validation Study of MFM-32 in SMA Patients Treated With Nusinersen Adults With SMA Treated With Nusinersen Metabolomics of Children With SMA Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms) 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 Effects of Power Mobility on Young Children With Severe Motor Impairments Optimum Insufflation Capacity in NMD Flu Vaccine Study in Neuromuscular Patients 2011 Reciprocating Gait Orthoses for Paraplegia Patients WREX Outcome Study National Registry for Egyptian Pediatric Neuromuscular Diseases A Drug-drug Interaction Study With Risdiplam Multiple Dose and Midazolam in Healthy Participants Multi-disease Carrier Screening Test Validation Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions Phase II Study of Leuprolide and Testosterone for Men With Kennedy’s Disease or Other Motor Neuron Disease Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. AveXis Managed Access Program Cohort for Access to AVXS-101 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Measuring Levels of SMN in Blood Samples of SMA Patients SMN Copy Number Distribution in Mali, West Africa Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System Sun May Arise on SMA : Newborn Screening of SMA in Belgium Monitoring to the Evolution of Motor Function in SMA Type II Adults Patients Treated With SPINRAZA® A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Risdiplam (RO7034067) Given by Mouth in Healthy Volunteers Study of Feasibility to Reliably Measure Functional Abilities’ Changes in Nonambulant Neuromuscular Patients Without Trial Site Visiting Identification of a Biomarker Associated With Cis-duplication of the SMN1 Gene Effects of Standing on Non-Ambulatory Children With Spinal Muscular Atrophy A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies. Clinical Trial of Exercise in Patients With Spinal Muscular Atrophy (SMA) Evaluation of Therapeutic Response in Spinal Muscular Atrophy Using Multispectral Optoacoustic Tomography (MSOT) and Magnetic Resonance Imaging (MRI) Clinical Study of Spinal Muscular Atrophy Evaluation of the Muscle Strength and Motor Ability in Children With Spinal Muscle Atrophy(SMA) Treated With Valproic Acid Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA) Natural History of Types 2 and 3 SMA in Taiwan Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA). An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA) 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) Study of Intrathecal Administration of Onasemnogene Abeparvovec-xioi for Spinal Muscular Atrophy Expanded Access Program (EAP) for Nusinersen in Participants With Infantile-onset (Consistent With Type 1) Spinal Muscular Atrophy (SMA) Pulmonary Function Test Changes and Respiratory Muscle Strength Trends in Spinal Muscular Atrophy Patients Receiving Nusinersen Treatments A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy A Trial of Hydroxyurea in Spinal Muscular Atrophy A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy Valproate and Levocarnitine in Children With Spinal Muscular Atrophy European Registry of Patients With Infantile-onset Spinal Muscular Atrophy Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA) Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy Neonatal Spinal Muscular Atrophy (SMA) Screening Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy 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) A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) Newborn Screening for Spinal Muscular Atrophy New Imaging Biomarkers for Muscular Diseases – Multispectral Optoacoustic Imaging in Spinal Muscular Atrophy An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA) Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Mechanisms of Cell Death in Spinal Muscular Atrophy Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Reliability and Validity of the ACTIVE-mini for Quantifying Movement in Infants With Spinal Muscular Atrophy

Brief Title

Quality of Life and Participation of the Adult With Spinal Muscular Atrophy in France

Official Title

Specificities of Quality of Life and Influence of Participation on the Quality of Life of the Adult With Spinal Muscular Atrophy in France: a Cross-sectional Study

Brief Summary

      Spinal muscular atrophy is a hereditary motorneuron disease caused by a mutation of the SMN1
      gene, which is at the origin of a progressive limb and axial motor deficiency. It concerns
      1200 individuals in France, including 700 adults in 2018. The main objective of this study is
      to assess the quality of life of SMA patients in France.

      The secondary objectives are, in one hand, to compare the quality of life of SMA patients to
      a population of neuromuscular diseases patients. And on the other hand to evaluate the
      determinants of participation and the impact of participation on quality of life in adult SMA
      patients.

Study Type

Observational

Primary Outcome

Quality of life

Condition

Spinal Muscular Atrophy

Intervention

SMA adult patients

Study Arms / Comparison Groups

 SMA adult patients
Description:

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status

Other

Estimated Enrollment

175

Start Date

June 2022

Completion Date

August 2023

Primary Completion Date

June 2023

Eligibility Criteria

        Inclusion Criteria:

          -  Patient with SMA type 1, 2, 3 or 4

          -  ≥ 18 years old

          -  giving informed consent to participate to the study

          -  patients from the study of Dany et al "Construction of a Quality of Life Questionnaire
             for slowly progressive neuromuscular disease" (2015)

        Exclusion Criteria:

          -  patients who do not complete ≥ 80% of the questionnaire)-

Gender

All

Ages

18 Years - 85 Years

Accepts Healthy Volunteers

No

Contacts

, +334 72 12 95 04, [email protected]

Location Countries

France

Location Countries

France

Administrative Informations

NCT ID

NCT05366465

Organization ID

69HCL22_0200

Responsible Party

Sponsor

Study Sponsor

Hospices Civils de Lyon

Study Sponsor

, ,

Verification Date

May 2022