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. 2024 Jan 24;19(1):24.
doi: 10.1186/s13023-023-03008-6.

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Emmanuelle Salort-Campana  1   2   3 , Guilhem Solé  4   5 , Armelle Magot  6   5 , Céline Tard  7   5 , Jean-Baptiste Noury  8   5 , Anthony Behin  9   5 , Elisa De La Cruz  10   11 , François Boyer  12   5 , Claire Lefeuvre  13   5 , Marion Masingue  9   5 , Louise Debergé  4   5 , Armelle Finet  14   5 , Mélanie Brison  15   5 , Marco Spinazzi  16   5 , Antoine Pegat  17   18   5 , Sabrina Sacconi  19   5 , Edoardo Malfatti  20   5 , Ariane Choumert  21   5 , Rémi Bellance  22   5 , Anne-Laure Bedat-Millet  23   5 , Léonard Feasson  24   5 , Carole Vuillerot  25   5 , Agnès Jacquin-Piques  26   5 , Maud Michaud  27   5 , Yann Pereon  6   5 , Tanya Stojkovic  9   5 , Pascal Laforêt  13   11   5 , Shahram Attarian  14   28   5 , Pascal Cintas  29   5
Affiliations

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Emmanuelle Salort-Campana et al. Orphanet J Rare Dis. .

Abstract

Background: In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved children. Since 2020, the oral, selective SMN2-splicing modifier risdiplam has been available with restrictions evolving with time. In this peculiar context of lack of data regarding adult patients, many questions were raised to define the indications of treatment and the appropriate follow-up in this population. To homogenize access to treatment in France, a national multidisciplinary team meeting dedicated to adult SMA patients, named SMA multidisciplinary team meeting, (SMDTs) was created in 2018. Our objective was to analyze the value of SMDTs in the decision-making process in SMA adult patients and to provide guidelines about treatment.

Methods: From October 2020 to September 2021, data extracted from the SMDT reports were collected. The primary outcome was the percentage of cases in which recommendations on validating treatment plans were given. The secondary outcomes were type of treatment requested, description of expectations regarding treatment and description of recommendations or follow-up and discontinuation. Data were analyzed using descriptive statistics. Comparisons between the type of treatment requested were performed using Mann-Whitney test or the Student t test for quantitative data and the Fisher's exact test or the χ2 test for qualitative data.

Results: Cases of 107 patients were discussed at the SMDTs with a mean age of 35.3 (16-62). Forty-seven were SMA type 2, and 57 SMA type 3. Twelve cases were presented twice. Out of 122 presentations to the SMDTs, most of requests related to the initiation of a treatment (nusinersen (n = 46), risdiplam (n = 54), treatment without mentioning preferred choice (n = 5)) or a switch of treatment (n = 12). Risdiplam requests concerned significantly older patients (p = 0.002), mostly SMA type 2 (p < 0.0001), with greater disease severity in terms of motor and respiratory function compared to requests for nusinersen. In the year prior to presentation to the SMDTs, most of the patients experienced worsening of motor weakness assessed by functional tests as MFM32 or other meaningful scales for the most severe patients. Only 12% of the patients discussed had a stable condition. Only 49/122 patients (40.1%) expressed clear expectations regarding treatment. The treatment requested was approved by the SMDTs in 72 patients (67.2%). The most common reasons to decline treatment were lack of objective data on the disease course prior discussion to the SMDTs or inappropriate patient's expectations. Treatment requests were more likely to be validated by the SMDTs if sufficient pre-therapeutic functional assessment had been performed to assess the natural history (55% vs. 32%) and if the patient had worsening rather than stable motor function (p = 0.029). In patients with approved treatment, a-priori criteria to define a further ineffectiveness of treatment (usually after 14 months of treatment) were proposed for 67/72 patients.

Conclusions: In the context of costly treatments with few controlled studies in adults with SMA, in whom assessment of efficacy can be complex, SMDTs are 'real-world observatories' of great interest to establish national recommendations about indications of treatment and follow-up.

Keywords: Clinical decision-making; Multidisciplinary team meeting; SMA; Spinal muscular atrophy; Treatment.

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Conflict of interest statement

ESC received honoraria for advisory boards and speaking at educational events for Biogen, Argenx, UCB, Sanofi-Aventis, Roche, Lupin. GS received funding from BIOGEN FRANCE SAS to attend two medical meetings in the last 5 years. AM reports no disclosures. CT reports personal fees and non-financial support from Sanofi-Genzyme, personal fees and non-financial support from Amicus, personal fees from Akcea, personal fees and non-financial support from Pfizer, personal fees and non-financial support from Alnylam, personal fees from Ultragenyx, personal fees from Biogen, non-financial support from Santhera, non-financial support from LFB, personal fees from Argenx, personal fees and non-financial support from UCB, outside the presented work. J-BN reports travel grants from Biogen and Roche. AB reports no disclosures. EDLC has received financial support for attending meetings and/or travel from Biogen, Sanofi-Aventis. FB reports no disclosures. CL reports no disclosures. Masingue Marion reports no disclosures. LD reports honoraria for participation to an advisory board of Biogen. AF reports honoraria for lectures for Biogen. MB reports no disclosures. MS reports no disclosures. AP reports no disclosures. SS reports payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events Lupin, fulcrum; support for attending meetings and/or travel UCB Pharma, SANOFI, BIOGEN, FULCRUM THERAPEUTICS, participation on a Data Safety Monitoring Board or Advisory Board SANOFI,BIOGEN,AMICUS,UCB Pharma, ALEXION EM reports no disclosures. AC reports no disclosures. RB reports no disclosures. LF has received financial support from Biogen, Sanofi-Aventis, Roche, Lupin, LFB, Santhera, for its participation in conferences and educational events. CV reports consultancies for Roche, Novartis GT, Biogen, IPSEN and Sarepta and has been primary investigator for Roche, Novartis GT and PTCA J-P reports no disclosures. Michaud Maud reports no disclosures. YP reports consultancies, participation to advisory board and clinical trials with Avexis, Biogen, Novartis, Roche. TS reports participation to advisory boards and lectures with Roche and Biogen. PL received honoraria for advisory boards and speaking at educational events for Biogen and Roche. SA reports participation to advisory boards and lectures with Biogen and Roche. PC received honoraria for advisory boards and speaking at educational events for Biogen, Argenx, UCB, Sanofi-Aventis, Roche, Lupin, LFB, Alnylam.

Figures

Fig. 1
Fig. 1
Changes in access to specific SMA treatments during the study period in France
Fig. 2
Fig. 2
Distribution of cases presented at the SMDTs according to the reason for discussion
Fig. 3
Fig. 3
Reason for treatment request regarding SMA type. The diagram illustrates the patients' motor progression in the period prior to presentation to the SMDTs. A in SMA type 2 patients. B in SMA type 2 patients. UL: upper limbs, LL: lower limbs
Fig. 4
Fig. 4
Patients’ expectations. This figure shows patients’ expectations of treatment in terms of function. The bars show the absolute number of patients who expressed an expectation for that function. Dark grey indicates expectation of improvement, light grey indicates expectation of stability
See this image and copyright information in PMC

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