S100 Abstracts / Neuromuscular Disorders 30 (2020) S46–S150

-23,9%) for the trapezius muscle (p = 0.034, -17,43%) and the TA muscle with completion of at least one PedsQLTM questionnaire (47 females, 33
(p = 0.028, -13,9%) as well as in the MUNIX total score (p = 0.0005, - males, 23 with type 1, 35 with type 2, and 2 with type 3 SMA). Confirmed
13,32%). Functional outcomes and MUNIX evaluation can detect disease diagnosis type 1, type 2, or type 3 SMA was based on both genetic testing
progression in slow progressive adult SMA patients, with MUNIX seeming to results and clinical presentation. For Spinraza treated patients, only data prior
be the most sensitive biomarker. The constitution of a composite multimodal to Spinraza treatment were included in the analysis. A repeated measures
score could further increase the ability to predict modifications over time linear model was used to examine that PedsQLTM scores. The scores were
also in short-lasting clinical trials. served as the response variable and independent variables included were
patient demographics, SMA type, respiratory, motor and feeding status,
http://dx.doi.org/10.1016/j.nmd.2020.08.183 insurance type, parent co-habitancy. Important (a-priori) interaction items
were included if possible. Statistically significant parameter estimates for
each independent variable were assessed. All child and parents reported
PedsQLTM 4.0 Generic Core Scales and PedsQLTM 3.0 Neuromuscular
Module scores were decreased in all three types of SMA patients with the
P.182
most decreased scores seen in type 1 SMA patients. Physical dimension in
ActiMyo R
: Upper limb activity in non-ambulant patients with spinal
the generic scales and all dimensions in the neuromuscular scales including
muscular atrophy treated with Spinraza
disease, resource and communication were most affected. Scores in type
C. Lilien 1, M. Annoussamy 2, M. Polleur 3, A. Seferian 4, O. Boespflug-
2 SMA patients were either similar or slightly increased comparing to
Tanguy 4, K. Gorni 5, D. Eggenspieler 2, L. Servais 1
1 MDUK Neuromuscular Centre, Oxford, UK; 2 Sysnav, Vernon, France; the scores in type 1 patients except for significantly higher scores in
3 CRMN La Citadelle, Liège, Belgium; 4 Institut de Myologie, Paris, France; communication dimension of the neuromuscular module in type 2 patients
5 F. Hoffmann-La Roche Ltd, Basel, Switzerland comparing to type 1 patients. In generic scales, social, school functioning
and emotional dimensions were significantly affected in type 1 and 2 SMA
The objective is to compare the disease course of untreated and patients.
Spinraza-treated patients with spinal muscular atrophy (SMA) as assessed by
continuous measure issued from a wearable device (ActiMyo R
). ActiMyo R
, http://dx.doi.org/10.1016/j.nmd.2020.08.185
a magneto-inertial device, permits gait and activity analysis of patients in an
uncontrolled environment. The European Medical Agency qualified the 95th
centile of stride velocity (SV95C), a digital outcome computed through the
sensors, as a secondary endpoint in Duchenne muscular dystrophy (DMD). P.184
Lower- and upper-limbs outcomes computed through the sensors have already Disease and treatment burden of spinal muscular atrophy (SMA)
demonstrated sensitivity to negative change in natural history studies (NHS) on patients and caregivers in Canada
of patients presenting with DMD and SMA respectively. The comparison of H. McMillan 1, B. Gerber 2, T. Cowling 2, W. Khuu 2, M. Mayer 2, J. Wu 3,
the disease course of non-ambulant patients’ upper limb activity in NHS and B. Maturi 3, K. Klein-Panneton 3, C. Cabalteja 3, H. Lochmüller 4
before and after Spinraza initiation will also permit to document potential 1 CHEO, University of Ottawa, Ottawa, ON, Canada; 2 Medlior Health
sensitivity to positive change. 28 non-ambulant SMA patients type II and III
Outcome Res Ltd, Calgary, AB, Canada; 3 Hoffman - La Roche Ltd,
included in a NHS and 10 non-ambulant patients before and after Spinraza
Mississauga, ON, Canada; 4 TOH, CHEO, University of Ottawa, Ottawa,
initiation were equipped with an ActiMyo R
. The median ages were 13.4
ON, Canada
[6.1-28.1] years for patients from the NHS and 26.9 [10-57] years for patients
recorded during treatment initiation. We will present upper-limb activity data Spinal muscular atrophy (SMA) is a rare neurodegenerative disease
from a small cohort of non-ambulant patients with SMA before and during characterized by progressive muscular weakness. The management of SMA
treatment with Spinraza. These data will be important to define the sensitivity is resource intensive, with patients largely dependent on caregivers through
to change and the size effect of continuous measurement. Furthermore we their lives. The economic and social costs of SMA for patients and
will be able to highlight the compliance rates of patients using uncontrolled caregivers have been demonstrated in studies in Europe and the US.
environment wearable device as the ActiMyo R
. The primary objective of this study was to characterize the burden of
SMA in Canada. Data was collected via online surveys distributed through
http://dx.doi.org/10.1016/j.nmd.2020.08.184 two patient groups (CureSMA Canada and Muscular Dystrophy Canada),
including demographics, clinical characteristics, healthcare resource use,
indirect costs, quality of life and caregiver burden. Overall, 965 patients
and 962 caregivers met inclusion criteria for this study. Respondents were
excluded if deemed as bots (reCAPTCHA score<0.5) or ballot box stuffers
P.183
(e.g. same respondent comes back on the same browser and device) or
Patient reported health-related quality of life in pediatric patients
if patients did not confirm having 5q-deletion. Mean age of patients was
with spinal muscular atrophy type 1, 2 and 3
S. Wagner 1, B. Wong 2, J. Lambert 3, P. Horn 1, J. Bange 3, I. Rybalsky 3, 13.7 years (standard deviation [SD]: 12.4); 25.0% reported having type
C. Tian 1 I, while 41.3% and 29.3% reported having type II and III, respectively.
1 University of Cincinnati, Cincinnati, USA; 2 University of Massachusetts, Type I patients reported spending a median of $6,100CAD (interquartile
Worcester, USA; 3 Cincinnati Children’s Hospital, Cincinnati, USA range [IQR]: $2,900-$7,700) on home modifications, while type II and III
patients spent $15,000 ($9,000-$25,000) and $15,000 ($10,000-$18,500).
Spinal muscular atrophy (SMA) is a motor neuron disease that causes Type I, II and III patients reported spending $3,000 ($1,542-$6,250), $4,785
progressive muscle weakness and functional decline. Assessing health-related ($2,000-$13,400) and $3,225 ($1,300-$18,500) on assistive devices in the
quality of life (HRQOL) in SMA patients is important in effectively last year, respectively. The median spend on allied health services in the
managing and reducing disease burden. Limited data exists that compares last year was $6,961 ($5,000-$9,000), $7,500 ($4,000-$16,000), and $5,800
HRQOL among patients with different types of SMA. Our study assessed ($3,500-$10,000) among type I, II, and III patients, respectively. Mean age of
patient reported HRQOL using the PedsQLTM 4.0 Generic Scales and caregivers was 35.2 (6.6) years. Among caregivers who provided a response
PedsQLTM 3.0 Neuromuscular Module and examined the correlation of regarding impact of caregiving (n=842), 31.1% reported taking medication
HRQOL with disease severity in patients with SMA type 1, 2, and 3. for anxiety/depression, 36.5% had received counselling, 45.7% had received
Both PedsQLTM 4.0 Generic Core Scales and PedsQLTM 3.0 Neuromuscular respite care for exhaustion, and 45.7% had received physiotherapy for an
Module have established validity and reliability in the SMA population. We injury associated with transferring the person with SMA. This study shows
retrospectively studied electronic medical records of total 80 SMA patients the indirect costs associated with SMA and highlights the considerable
 Abstracts / Neuromuscular Disorders 30 (2020) S46–S150 S101

impact that caring for someone with SMA has on caregivers. This 6 Rouen Hospital, Rouen, France; 7 La Timone Hospital, Marseille, France;
understanding is crucial as new therapeutic options become available that 8 Necker Hospital, Paris, France; 9 CHU Toulouse, Toulouse, France;
may change the standard of care and prognosis for individuals diagnosed with 10 CHU Bordeaux Hospital, Bordeaux, France; 11 CHU Strasbourg Hospital,

SMA. Strasbourg, France; 12 CHU Nantes Hospital, Nantes, France; 13 CHU Nice
Hospital, Nice, France; 14 CHU Lille Hospital, Lille, France
http://dx.doi.org/10.1016/j.nmd.2020.08.186
Changes in standards of care and the emergence of innovative targeted
therapies have changed the natural history of SMA. This new landscape
shows the need of real-life registries to answer to clinical, economic
and ethical issues. We present the French registry of SMA treated and
P.185 untreated patients followed in reference centers of the national network
A population-based study examining the epidemiologic burden, (FILNEMUS). The registry will provide information about SMA patients in
healthcare resource utilization and costs of spinal muscular atrophy in real-life conditions at the moment in France. It will also be a robust baseline
Alberta, Canada for a prospective register, as it will longitudinally follow these patients
G. Chen 1, B. Sharif 1, B. Gerber 1, M. Farris 1, T. Cowling 1, C. Cabalteja 2, and the newly diagnosed ones over the next 5 years. This observational
J. Wu 2, B. Maturi 2, K. Klein-Panneton 2, J. Mah 3 registry collects data on epidemiology, personal and family history, genetics,
1 Medlior Health Outcome Res Ltd, Calgary, Canada; 2 Hoffman-La Roche
clinical features, motor and respiratory function, nutrition, rehabilitation,
Ltd, Mississauga, ON, Canada; 3 University of Calgary, Calgary, Canada drug therapies, adverse events, quality of life and survival. It will include
genetically confirmed SMA types 1, 2, 3 and 4 followed in France from
Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that
September 2016 with an estimated population of 1000 patients (50%
affects one in 10,000 live births. This study describes the epidemiology,
children). Enrolment started in January 2020. As of 1 April 2020, 47 patients
healthcare resource utilization (HRU), and costs for children with SMA
(33 children, 16 adults). have been registered in four centers (9 SMA1; 21
in Alberta, Canada. This retrospective study identified pediatric patients
SMA2; 9 SMA3). 42 centers will take part in the project (26 pediatric, 13
with SMA between April 2012 – March 2017 by linking several Alberta
adults). Preliminary results of the retrospective study from 2016 to 2019
administrative datasets (health services, vital statistics, and pharmacy data)
(R-SMA) will be showed at the meeting. The French registry is currently
utilizing a published algorithm based on diagnostic codes. Age at the first
operative and will spread in the following months to complete the national
SMA diagnostic code date was used as a proxy for SMA type based on
territory. Characterization of treated and not treated SMA patients will allow
the following cut-offs: type I (<6 months), type II (6-18 months), and type
improving the understanding of the disease, and developing better therapeutic
III (18 months to <18 years). Five-year incidence and prevalence estimates
strategies and follow-up tools.
were calculated for SMA cases identified between 2012-2016 divided by
the total person-years/persons at risk. All-cause and SMA-specific (SMA
as a primary diagnosis) HRU and per-patient costs were examined in the http://dx.doi.org/10.1016/j.nmd.2020.08.188
first year post-SMA diagnosis for hospitalizations, length of stay (LOS),
physician visits, ambulatory care visits, SMA-related medication expenses
and long-term care. All costs were inflated to 2020 Canadian dollars (CAD)
using the Statistics Canada health and personal care consumer price index. P.187
49 children with SMA were identified (median age 4.1 (interquartile range Systematic literature review of the economic burden and economic
[IQR] 0.6-8.4) years; type I n=10, type II n=7, type III n=32). The evaluations in spinal muscular atrophy
overall five-year incidence and prevalence of SMA in Alberta was 1.0 T. Dangouloff 1, L. Servais 2, M. Hiligsmann 3
(confidence interval [CI] 0.8-1.4) per 100,000 person-years and 10.0 (CI 9.3- 1 University of Liege, Liege, Belgium; 2 University of Oxford, Oxford, UK;

10.6) per 100,000 persons, respectively. In the first year post-SMA diagnosis, 3 Maastricht University, Maastricht, Netherlands

51.0% of patients had ≥1 hospitalization (SMA-specific: 24.5%) with a

New treatments in spinal muscular atrophy (SMA) have led to a complete
mean LOS of 29.8 (standard deviation [SD] 41.6) days (SMA-specific: 14.0
change in the pattern in the use of health care resources in this disease.
[SD 12.6]); the mean number of all-cause specialist visits was 48.4 (SD
Through all over the world, the very high cost of innovative medication
70.1) (SMA-specific: 12.6 [SD 29.9]), while fewer than five individuals
has led to public debates largely expressed in mainstream medias. We have
were dispensed medication. The mean all-cause costs were $29,776 (SD
systematically reviewed studies evaluating the cost of SMA and economic
38,405) (SMA-specific: $7,132 [SD 12,930]), whereas, among type I, type
evaluations of spinal muscular atrophy. The review was conducted according
II, and type III patients, all-cause costs were $47,713 (SD 32,495), $52,209
to PRISMA guidelines and included original articles published between
(SD 34,440), and $19,263 (SD 37,632), respectively. This study highlights
January 1, 1998 and March 2020. Seven studies reporting the cost of SMA
the economic burden of SMA. While SMA is rare, the HRU and costs
were identified. The average annual costs of untreated SMA1 (including early
were substantial, particularly among those with type I and II disease in
onset and SMA before one year), were relatively similar across the different
Alberta.
studies, ranging from $106,000 to $140,000 per year. On the other hand,
the costs for SMA 2, 3 and 4 were mainly presented together (ranging from
http://dx.doi.org/10.1016/j.nmd.2020.08.187
$23,000 to $115,000), despite a high heterogenicity in clinical conditions
leading to very different health care resource consumption. Five economic
evaluations were published between 2017 and 2020 and included innovative
disease modifying medications. Three assessed the cost-effectiveness of
P.186 nusinersen against standards of care, one of them two treatments (nusinersen
“Registre-SMA France”: a national registry of patients with spinal and zolgensma) against standards of care and one compared Nusinersen and
muscular atrophy (SMA) Zolgensma. All studies used a decision-analytic model to assess the cost-
M. Gomez-Garcia de la Banda 1, L. Grimaldi 2, J. Urtizberea 3, A. Behin 4, effectiveness and are based on same clinical trials involving a limited number
C. Vuillerot 5, P. Saugier-Veber 6, F. Audic 7, C. Barnerias 8, C. Cances 9, of patients. Due to the extremely high cost of treatment, the incremental
E. Campana-Salort 7, C. Spil 10, P. Laforet 1, V. Laugel 11, Y. Pereon 12, cost-effectiveness ratio of drugs versus no treatment is generally above
S. Sacconi 13, T. Stojkovic 4, C. Tard 14, B. Chabrol 7, I. Desguerre 8, $200,000, leading to no cost-effective results. In conclusion, all studies
S. Quijano-Roy 1 converge to demonstrate the significant economic cost of SMA, especially
1 Raymond Poincare Hospital, Garches, France; 2 Ambroise Pare Hospital,
SMA1, but a better evaluation of the cost related to other forms is needed.
Boulogne-Bilancourt, France; 3 Marin Hospital, Hendaye, France; 4 Institut A few economic evaluations suggest that drugs delivered in post-symptomatic
de Myologie, Paris, France; 5 L’escale Civices Hospital, Lyon, France; phase at current prices are actually not cost-effective at commonly accepted