The Centre for CommunityDriven Research Study partners The

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The Centre for Community-Driven Research

The Centre for Community-Driven Research

Study partners The Centre for Community-Driven Research

Study partners The Centre for Community-Driven Research

Study demographics • • Fifty participants from Australia were recruited into the study. Participants

Study demographics • • Fifty participants from Australia were recruited into the study. Participants included parents of children living with SMA 1, 2 and 3 (n= 21; 42. 0%), parents of children who had died from SMA 1 (n= 9; 18. 0%), and 20 participants that had been diagnosed with SMA 2, 3 and 4 (n= 20; 40. 0%). While there were 50 participants in the study, this represented 52 individuals with SMA as two participants had two children with SMA. The diagnosis of SMA type for the adult participants or the children were SMA 1 (n=13; 25. 0%), SMA 2 (n=25; 48. 1%), SMA 3 (n = 10; 19. 2%) and SMA 4 (n=4, 7. 7%). Largest QOL mixed methodology study in Australia and the world. • Participants came from all states across Australia in metropolitan (70. 0%), inner regional (20. 0%), outer regional (8. 0%) and very remote (2. 0%) areas. • 30 female and 22 male individuals diagnosed with SMA were represented in this study. Two parents had two children with SMA taking the total to 52 individuals represented. In relation to baseline health, there were no significant differences found in any of the subscales between the parents of children diagnosed with SMA 1 with parents of children diagnosed with SMA 2 or 3. There was a significant difference between the median score of participants diagnosed with SMA 2 and participants diagnosed with SMA 3 or 4 for Role Functioning/Emotional where it was observed that patients diagnosed with SMA 2 have a more difficult experience coping with emotional health. • • The Centre for Community-Driven Research

Most common symptoms 100% SMA 1 90% SMA 2 SMA 3, 4 80% Percentage

Most common symptoms 100% SMA 1 90% SMA 2 SMA 3, 4 80% Percentage of participants 70% 60% 50% 40% 30% 20% 10% 0% Floppy, relaxed, lazy, weak The Centre for Community-Driven Research Poor head strength/not being able to pull self up Difficulty walking or poor leg strength/reflexes or sit up

Pathway to diagnosis The Centre for Community-Driven Research

Pathway to diagnosis The Centre for Community-Driven Research

Days to diagnosis SMA type Days to diagnosis (pre 2008) SMA 1 48. 5

Days to diagnosis SMA type Days to diagnosis (pre 2008) SMA 1 48. 5 46. 0 SMA 2 146. 8 607. 3 SMA 3, 4 824. 0 1373. 6 The Centre for Community-Driven Research

Diagnostic tests Blood test SMA 1 SMA 2 Muscle biopsy SMA 3, 4 Lumbar

Diagnostic tests Blood test SMA 1 SMA 2 Muscle biopsy SMA 3, 4 Lumbar puncture, Nerve conduction, MRI, Blood test, Nerve conduction Muscle biopsy, Blood test 0 The Centre for Community-Driven Research 10 20 30 40 50 Percentage of participants 60 70 80 90

Clarity of prognosis SMA 1 SMA 2 Prognosis relatively clear SMA 3, 4 Prognosis

Clarity of prognosis SMA 1 SMA 2 Prognosis relatively clear SMA 3, 4 Prognosis through their own research Prognosis not clear 0 10 The Centre for Community-Driven Research 20 30 40 50 60 Percentage of participants 70 80 90 100

Treatment discussions SMA 1 No treatment options being offered SMA 2 SMA 3, 4

Treatment discussions SMA 1 No treatment options being offered SMA 2 SMA 3, 4 Discussions focussed on supportive care (Palliative care) New treatments or nusinersen (Spinraza) treatment being discussed but not available Discussions focussed on supportive care (physiotherapy/occupational therapy) Discussions focussed on supportive care (respiratory support/avoiding respiratory conditions) Discussions about spinal or orthopaedic surgery Discussions about sodium valproate (Epilim) 0% The Centre for Community-Driven Research 10% 20% 30% 40% 50% 60% 70% Percentage of participants 80% 90% 100%

Experience of clinical trials 60% SMA 1 50% SMA 2 SMA 3, 4 40%

Experience of clinical trials 60% SMA 1 50% SMA 2 SMA 3, 4 40% 30% 20% 10% 0% Participant describes clinical Participant describes no Participant describes clinical Participant describes interest trials being offered but clinical trials being discussed trials/expanded access being trials being discussed but no in clinical trials but not being deciding not to participate offered and choosing to trials being available for them (Patientparticipate them (Clinician-driven) Percentage of participants The Centre for Community-Driven Research

Experience of treatment SMA 1 Physiotherapy/exercise SMA 2 Nusinersen (Spinraza) SMA 3, 4 Occupational

Experience of treatment SMA 1 Physiotherapy/exercise SMA 2 Nusinersen (Spinraza) SMA 3, 4 Occupational Therapy to organise equipment Hydrotherapy Sodium valproate (Epilim) Participant describes receiving no medication at all CPAP or Bi. PAP Chiropractic Cough Assist Spinal or orthopaedic surgery AFOs, splints or KFOs 0% The Centre for Community-Driven Research 10% 20% 30% 40% 50% Percentage of participants 60% 70% 80%

Health professional communication SMA 1 Excellent communication from neurologist or neuro team/hospital team SMA

Health professional communication SMA 1 Excellent communication from neurologist or neuro team/hospital team SMA 2 SMA 3, 4 General communication respectful and a positive experience Participant describes healthcare professionals not understanding SMA Participant describes a stand-alone, negative incident Limited interaction with healthcare professionals Participant describes feeling rushed in consultations Adult participant describes being ignored/not listened to or treated like a child 0% The Centre for Community-Driven Research 5% 10% 15% 20% 25% 30% Percentage of participants 35% 40% 45%

Health professional communication & respect 100% SMA 1 90% SMA 2 SMA 3, 4

Health professional communication & respect 100% SMA 1 90% SMA 2 SMA 3, 4 80% 70% 60% 50% 40% 30% 20% 10% 0% Participant describes being treated respectfully throughout their Participant describes not being treated respectfully throughout their experience Percentage of participants The Centre for Community-Driven Research

Experience of decision-making SMA 1 SMA 2 SMA 3, 4 Participant describes decision-making primarily

Experience of decision-making SMA 1 SMA 2 SMA 3, 4 Participant describes decision-making primarily as a family decision Participant describes decision-making as a process including self/family and neurologist and/or neurological team Participant describes decision-making as parents initially but later becoming an individual process Participant describes decision-making primarily as an individual process 0% The Centre for Community-Driven Research 10% 20% 30% 40% Percentage of participants 50% 60%

Who participants talk to & trust SMA 1 Participant describes talking to/trusting their neurologist/neuro

Who participants talk to & trust SMA 1 Participant describes talking to/trusting their neurologist/neuro team SMA 2 SMA 3, 4 Participant describes talking to/trusting all healthcare professionals Participant describes talking to/trusting physiotherapists Participant describes talking to/trusting respiratory physician Participant describes talking to/trusting general practitioners 0% The Centre for Community-Driven Research 5% 10% 15% 20% 25% 30% Percentage of participants 35% 40% 45%

Information accessed The Centre for Community-Driven Research

Information accessed The Centre for Community-Driven Research

Information not helpful The Centre for Community-Driven Research

Information not helpful The Centre for Community-Driven Research

Information helpful SMA 1 Healthcare worker SMA 2 SMA 3, 4 All information Non-profit

Information helpful SMA 1 Healthcare worker SMA 2 SMA 3, 4 All information Non-profit sector information Facebook or other blogs/forums or connecting with other people Practical information, how to access services and what to expect in the future 0% The Centre for Community-Driven Research 5% 10% 15% 20% 25% 30% Percentage of participants 35% 40% 45%

Information preferences SMA 1 SMA 2 Mix of written information and speaking with someone

Information preferences SMA 1 SMA 2 Mix of written information and speaking with someone SMA 3, 4 Speaking with a healthcare professional Online information No preference Speaking with peers or accessing forums (Face-to-Face) Written information 0% The Centre for Community-Driven Research 5% 10% 15% 20% Percentage of participants 25% 30% 35%

Information timing SMA 1 At diagnosis/from the start when making decisions SMA 2 Needing

Information timing SMA 1 At diagnosis/from the start when making decisions SMA 2 Needing time to mentally process the diagnosis before being receptive to information 1 month after diagnosis Ongoing need/learning as they go along Adolescence or early adulthood 6 months after diagnosis 0% The Centre for Community-Driven Research 10% 20% 30% 40% Percentage of participants 50% 60%

Experience of care and support The Centre for Community-Driven Research

Experience of care and support The Centre for Community-Driven Research

Experience of care coordination The Centre for Community-Driven Research

Experience of care coordination The Centre for Community-Driven Research

Experience of quality of life SMA 1 Baby/infant with SMA no quality of life

Experience of quality of life SMA 1 Baby/infant with SMA no quality of life SMA 2 SMA 3, 4 Strain on spouse/family relationship Impact on every part of their life/no respite 24/7 care and on activities of daily living [PARENT] Challenges managing care for all of the family SMA is the only life they have known/good quality of life Needing to adapt life goals/overall, quality of life is good Restricted mobility/not being able to be spontaneous 24/7 care and impact on activities of daily living [PATIENT] Challenge doing the same things that other children do 0% The Centre for Community-Driven Research 5% 10% 15% 20% 25% 30% Percentage of participants 35% 40% 45%

Impact on relationships SMA 1 Family or friends not understanding SMA and retreating from

Impact on relationships SMA 1 Family or friends not understanding SMA and retreating from the relationship SMA 2 SMA 3, 4 Feeling closer to family and friends Difficulties in relating to others who haven’t been affected by SMA Stress on spouse/partner relationship No impact on personal relationships Adjust peoples expectation to maintain relationships Guilt or strain on relying on others to care for them 0% The Centre for Community-Driven Research 10% 20% 30% 40% Percentage of participants 50% 60% 70%

Fear of progression The Centre for Community-Driven Research

Fear of progression The Centre for Community-Driven Research

Expectations of treatment (interview) SMA 1 SMA 2 Newborn screening SMA 3, 4 Access

Expectations of treatment (interview) SMA 1 SMA 2 Newborn screening SMA 3, 4 Access to new treatment(s), noting current availability of treatment overseas Access to new treatment(s), treatments being affordable Slow disease progression and/or improve quality of life Accessing treatments through clinical trials 0% The Centre for Community-Driven Research 10% 20% 30% 40% Percentage of participants 50% 60%

Aspects considered important when thinking about treatment (online ranking) Average weighted scores: with 8

Aspects considered important when thinking about treatment (online ranking) Average weighted scores: with 8 being the highest ranking and 1 being the lowest 8. 00 7. 00 6. 00 5. 00 4. 00 3. 00 2. 00 1. 00 0. 00 Quality oflife The Centre for Community-Driven Research Side effects How personalisedthe treatment is Family. Considerations

Treatment benefit and quality of life (how many months of good quality of life

Treatment benefit and quality of life (how many months of good quality of life is needed for a treatment to be beneficial) The Centre for Community-Driven Research

Expectations cross-cutting themes 62. 0% of all participants, including 58. 3% of SMA 1

Expectations cross-cutting themes 62. 0% of all participants, including 58. 3% of SMA 1 participants, 62. 5% of SMA 2 participants and 64. 3% of SMA 3 participants, called for access to new treatments (specifically nusinersen/Spinraza). 20. 0% of all participants, seven of which were parents of children with SMA 1 (62. 5% of SMA 1 participants) called for access to newborn screening. 70% Percentage of participants SMA 1 SMA 2 SMA 3, 4 60% 50% 40% 30% 20% 10% 0% There is an urgent need for new treatments (Nusinersen/Spinraza)/Need to improve Quality of Life The Centre for Community-Driven Research Need for more newborn screening

Expectations of care and support The Centre for Community-Driven Research

Expectations of care and support The Centre for Community-Driven Research

Expectations of information SMA 1 No recommendation - satisfied with information SMA 2 SMA

Expectations of information SMA 1 No recommendation - satisfied with information SMA 2 SMA 3/4 More centralised, detailed, Australian SMA information More general awareness of SMA More awareness with a focus on screening Practical advice, how to access services and what to expect in the future Messaging about SMA will be more positive 0% The Centre for Community-Driven Research 10% 20% 30% 40% Percentage of participants 50% 60% 70%

Messages to decision-makers • An urgent need for nusinersen (Spinraza) to be available to

Messages to decision-makers • An urgent need for nusinersen (Spinraza) to be available to improve the quality of life of infants, children and adults affected by SMA • Talk to people affected by SMA to really understand the condition and what is needed (consider the people not the condition - remember we are not just a number) • People with SMA can live productive lives, but this can only happen with adequate support. The Centre for Community-Driven Research

Messages to decision-makers Average weighted scores: with 5 being the highest ranking and 1

Messages to decision-makers Average weighted scores: with 5 being the highest ranking and 1 being the lowest 4. 5 4 3. 5 3 2. 5 2 1. 5 1 0. 5 0 Quality of life to patient Access to treatment The Centre for Community-Driven Research Economic considerations to patient Compassion Economic considerations to government

Advice to patients and families The Centre for Community-Driven Research

Advice to patients and families The Centre for Community-Driven Research

Discussion & conclusion Potentially a difference in language used by clinicians vs patents. Bridging

Discussion & conclusion Potentially a difference in language used by clinicians vs patents. Bridging this gap in language used may help avoid situations being dismissed or not taken seriously. There has previously been little focus on the pathway to diagnosis or time to diagnosis. With the variation in time to diagnosis between SMA types observed in this PEEK study, this information presents the sector with an opportunity to reduce this variation in diagnosis and provides a baseline on which to measure improvements. There has been a complex history in diagnosing SMA however with the ability to diagnose the condition through genetic testing and avoid muscle biopsies, it is reasonable to expect that the experience of patients in the future will be improved and potentially decrease the time from symptom presentation to diagnosis, and reducing the stress and anxiety associated with this process. The timing in which individuals are receptive to information varied between SMA types, and this is an important consideration when developing strategies to minimise emotional impact. Multiple approaches will be necessary to minimise the emotional impact as much as possible on families throughout diagnosis, with consideration of the time that individuals are most receptive to receiving information. This is particularly important as the majority of people faced with a diagnosis will not have heard of the condition before, as identified in this PEEK study. The Centre for Community-Driven Research

Discussion & conclusion • • In this PEEK study, half of the SMA 1

Discussion & conclusion • • In this PEEK study, half of the SMA 1 participants described receiving coordinated care, however, this was the only group that described this. Likewise, the SMA 1 group consistently scored better in measures of health system navigation and coordination of care, compared with other SMA types. This identified a gap in coordination of care between SMA types, and due to the nature of SMA, this lack of coordination may result in patients not receiving information about treatment and services available to them. Parents of infants with SMA 1 were observed in this PEEK study to have received better coordination of care, information and communication compared to other SMA types. As a result, they demonstrated a greater understanding of the treatment environment and had greater satisfaction with communication and care, and were more able to navigate the health system. However in the absence of treatment being available and regardless of the excellent care and coordination received by parents of infants with SMA 1, half of this group reported that their infant with SMA had no quality of life. A second common theme within this PEEK study was the need to access newborn screening and genetic testing, however a need for community education and awareness was also identified. In a study by Forrest et al. even in at-risk families, the majority of family members were not likely to have genetic testing, however family communication was an important factor in the decision to undergo testing, highlighting the importance of supporting families in communicating the need to undergo genetic testing. Overall, the SMA community experiences a relatively high level of anxiety in relation to disease progression, which was also evidenced by their call for new treatments to slow disease. The relationship between anxiety and quality of life has been discussed in a number of studies, across ages and disease areas and it follows therefore that any interventions that can ameliorate this anxiety are likely to improve the overall quality of life for the SMA community. The Centre for Community-Driven Research

Next steps At the end of each PEEK study, CCDR identifies three key areas

Next steps At the end of each PEEK study, CCDR identifies three key areas that, if improved, would significantly increase the quality of life and/or the ability for individuals to better manage their own health. In relation to the SMA community, these three areas are: • Being able to access treatments that slow disease progression • Interventions that reduce time to diagnosis • Centralised support for SMA 2, 3 and 4 patients and their families to support independent living, including information that is current, country-specific, SMA type-specific and provides practical advice on living with SMA The Centre for Community-Driven Research