scholarly journals Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy

2019 ◽  
Vol 6 (3) ◽  
pp. 185-195 ◽  
Author(s):  
Hiangkiat Tan ◽  
Tao Gu ◽  
Er Chen ◽  
Rajeshwari Punekar ◽  
Perry B. Shieh
Keyword(s):  
Spinal Muscular Atrophy ◽  
Healthcare Utilization ◽  
Late Onset ◽  
Muscular Atrophy ◽  
Healthcare Resource Utilization ◽  
Administrative Claims ◽  
Childhood Onset ◽  
Non Invasive ◽  
Costs Of Care ◽  
Non Invasive Ventilation

Objectives: To understand treatment patterns, healthcare resource utilization, and costs of care among patients with spinal muscular atrophy (SMA). Methods: SMA patients were identified from a large managed care population using administrative claims data from January 2006 to March 2016. Patients were classified into infantile, childhood-onset, and late-onset groups based on age of first SMA diagnosis. They were matched 1:1 to non-SMA patients based on age, gender, geography, and health plan type. Results: In the infantile group, 17.4% and 26.1% were treated with invasive and non-invasive ventilation, respectively. Uses of orthotics/orthoses and orthopedic surgery were frequent: 54.5% and 22.7% childhood group; 27.0% and 38.5% late-onset group. Mean per member per month costs in SMA vs. matched non-SMA patients was $25,517 vs. $406 (infantile); $6,357 vs. $188 (childhood-onset); $2,499 vs. $742 (late-onset). Conclusions: SMA patients, particularly with infantile onset, incurred significantly higher healthcare utilization and costs than the general population.

scholarly journals Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011051
Author(s):  
Federica Trucco ◽  
Deborah Ridout ◽  
Mariacristina Scoto ◽  
Giorgia Coratti ◽  
Marion L Main ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Paediatric Cohort ◽  
New Treatments ◽  
Type 3

Objective.To describe the respiratory trajectories and their correlation with motor function in an international paediatric cohort of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA).Methods.Eight-year retrospective observational study of patients in the iSMAc natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC% predicted (FVC%P.), Non-Invasive ventilation (NIV) requirement. Hammersmith functional motor scale (HFMS) and Revised performance of upper limb (RULM) were correlated with respiratory function. We excluded patients in interventional clinical trials and on Nusinersen commercial therapy.Results.There were 437 patients with SMA: 348 type 2, 89 non-ambulant type 3. Mean age at first visit was 6.9(±4.4) and 11.1(±4) years. In SMA type 2 FVC%P declined by 4.2%/year from 5 to 13 years, followed by a slower decline (1.0%/year). In type 3 FVC%P declined by 6.3%/year between 8 and 13 years, followed by a slower decline (0.9%/year). 39% SMA type 2 and 9% type 3 required NIV at median age 5.0(1.8-16.6) and 15.1(13.8-16.3) years. 84% SMA type 2 and 80% type 3 had scoliosis, 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM in both subtypes.Conclusions.In SMA type 2 and non-ambulant type 3 lung function declines differently, with a common levelling after age 13 years. Lung and motor function correlated in both subtypes. Our data further defines the milder SMA phenotypes and provides novel information to benchmark the long-term efficacy of new treatments for SMA.

Effects of long-term non-invasive ventilation on sleep structure in children with Spinal Muscular Atrophy type 2

2019 ◽  
Vol 58 ◽  
pp. 82-87 ◽  
Author(s):  
Elisabetta Verrillo ◽  
Martino Pavone ◽  
Oliviero Bruni ◽  
Raffaele Ferri ◽  
Serena Caggiano ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Invasive Ventilation ◽  
Sleep Structure ◽  
Spinal Muscular Atrophy Type ◽  
Non Invasive ◽  
Non Invasive Ventilation

Reply to correspondence from Cobben and de Visser- ?SMN2-deletion in childhood-onset spinal muscular atrophy?

2002 ◽  
Vol 109 (3) ◽  
pp. 247-247
Author(s):  
Sandhya Srivastava ◽  
Monisha Mukherjee ◽  
Inusha Panigrahi ◽  
Gouri Shankar Pandey ◽  
Balraj Mittal ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Childhood Onset

scholarly journals RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

2020 ◽  
Vol 7 (2) ◽  
pp. 145-152 ◽  
Author(s):  
Richard S. Finkel ◽  
John W. Day ◽  
Darryl C. De Vivo ◽  
Janbernd Kirschner ◽  
Eugenio Mercuri ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
De Novo ◽  
Muscular Atrophy ◽  
Work Productivity ◽  
Healthcare Resource Utilization ◽  
Real World Data ◽  
Activity Impairment ◽  
Survival Status ◽  
Usual Clinical Practice

Background: Dramatic improvements in spinal muscular atrophy (SMA) treatment have changed the prognosis for patients with this disease, leading to important new questions. Gathering representative, real-world data about the long-term efficacy and safety of emerging SMA interventions is essential to document their impact on patients and caregivers. Objectives: This registry will assess outcomes in patients with genetically confirmed SMA and provide information on the effectiveness and long-term safety of approved and emerging treatments. Design and Methods: RESTORE is a prospective, multicenter, multinational observational registry. Patients will be managed according to usual clinical practice. Both newly recruitedSMAtreatment centers and sites involved in existing SMA registries, including iSMAC, Treat-NMD, French SMA Assistance Publique- Hôpitaux de Paris (AP-HP), Cure-SMA, SMArtCARE, will be eligible to participate; de novo; sites already participating in another registry may be included via consortium agreements. Data from patients enrolled in partnering registries will be shared with the RESTORE Registry and data for newly diagnosed patients will be added upon enrollment. Patients will be enrolled over a 5-year period and followed for 15 years or until death. Assessments will include SMA history and treatment, pulmonary, nutritional, and motor milestones, healthcare resource utilization, work productivity, activity impairment, adverse events, quality of life, caregiver burden, and survival. Status: Recruitment started in September 2018. As of January 3, 2020, 64 patients were enrolled at 25 participating sites. Conclusions: The RESTORE Registry has begun recruiting recently diagnosed patients with genetically confirmed SMA, enabling assessment of both short- and long-term patient outcomes.

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

2002 ◽  
Vol 22 (8) ◽  
pp. 703-709 ◽  
Author(s):  
S. Savas ◽  
S. Eraslan ◽  
S. Kantarci ◽  
B. Karaman ◽  
D. Acarsoz ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Childhood Onset

Winging of the Scapula: The Underlying Biomechanics and an Orthotic Solution

1995 ◽  
Vol 209 (4) ◽  
pp. 215-223 ◽  
Author(s):  
N D Barnett ◽  
M Mander ◽  
J C Peacock ◽  
K Bushby ◽  
D Gardner-Medwin ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Surgical Technique ◽  
Spinal Muscular Atrophy ◽  
Nerve Injury ◽  
Muscular Atrophy ◽  
Sensor System ◽  
Functional Improvement ◽  
Medial Border ◽  
Non Invasive ◽  
Muscular Disorders

Winging of the scapula occurring in muscular disorders (muscular dystrophy and spinal muscular atrophy) or nerve injury has been investigated, resulting in a thorough understanding and presentation of the underlying biomechanics causing this occurrence. This includes a biomechanical explanation of the characteristic prominence of the medial border of the scapula upon attempted elevation, together with the biomechanical reasons for the rotation of the scapula in a direction contrary to the normal scapulohumeral rhythm. Based on these findings, a non-invasive alternative to the surgical technique for scapular stabilization has been devised, using an inflatable orthosis, placed between the scapula and an external restraint (such as a spinal jacket). The device has been tested on one subject using a 3SPACE™ Isotrak™ electromagnetic source and sensor system, and gave encouraging results. Elevation increased by up to 35° (37 per cent), and functional improvement in the use of the hand around the head and face has been achieved. The technique needs no aftercare or physiotherapy and is therefore both economical and functionally effective.

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