Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-03008-6 |
| _version_ | 1797276353567916032 |
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| author | Emmanuelle Salort-Campana Guilhem Solé Armelle Magot Céline Tard Jean-Baptiste Noury Anthony Behin Elisa De La Cruz François Boyer Claire Lefeuvre Marion Masingue Louise Debergé Armelle Finet Mélanie Brison Marco Spinazzi Antoine Pegat Sabrina Sacconi Edoardo Malfatti Ariane Choumert Rémi Bellance Anne-Laure Bedat-Millet Léonard Feasson Carole Vuillerot Agnès Jacquin-Piques Maud Michaud Yann Pereon Tanya Stojkovic Pascal Laforêt Shahram Attarian Pascal Cintas |
| author_facet | Emmanuelle Salort-Campana Guilhem Solé Armelle Magot Céline Tard Jean-Baptiste Noury Anthony Behin Elisa De La Cruz François Boyer Claire Lefeuvre Marion Masingue Louise Debergé Armelle Finet Mélanie Brison Marco Spinazzi Antoine Pegat Sabrina Sacconi Edoardo Malfatti Ariane Choumert Rémi Bellance Anne-Laure Bedat-Millet Léonard Feasson Carole Vuillerot Agnès Jacquin-Piques Maud Michaud Yann Pereon Tanya Stojkovic Pascal Laforêt Shahram Attarian Pascal Cintas |
| author_sort | Emmanuelle Salort-Campana |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T15:26:05Z |
| format | Article |
| id | doaj.art-b995c184e3d74c469752208af81f61fa |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-07T15:26:05Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-b995c184e3d74c469752208af81f61fa2024-03-05T16:43:02ZengBMCOrphanet Journal of Rare Diseases1750-11722024-01-0119111310.1186/s13023-023-03008-6Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatmentsEmmanuelle Salort-Campana0Guilhem Solé1Armelle Magot2Céline Tard3Jean-Baptiste Noury4Anthony Behin5Elisa De La Cruz6François Boyer7Claire Lefeuvre8Marion Masingue9Louise Debergé10Armelle Finet11Mélanie Brison12Marco Spinazzi13Antoine Pegat14Sabrina Sacconi15Edoardo Malfatti16Ariane Choumert17Rémi Bellance18Anne-Laure Bedat-Millet19Léonard Feasson20Carole Vuillerot21Agnès Jacquin-Piques22Maud Michaud23Yann Pereon24Tanya Stojkovic25Pascal Laforêt26Shahram Attarian27Pascal Cintas28Service de Neurologie du Pr Attarian, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Timone University Hospital, Aix-Marseille UniversityCentre de Référence des Maladies Neuromusculaires AOC, Hôpital Pellegrin, CHU de BordeauxLaboratoire d’Explorations Fonctionnelles, Hôtel-Dieu, Centre de Référence des Maladies Neuromusculaires AOC, CHU de NantesCentre de Référence des Maladies Neuromusculaires Nord Est Ile de FranceReference Centre for Neuromuscular Diseases AOC, University Hospital of BrestCentre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HPCentre de Référence des Maladies Neuromusculaires AOC, CHU et Université de MontpellierPôle de Médecine Physique et de Réadaptation, Hôpital Universitaire Reims-Champagne-Ardenne, CHU SébastopolNord-Est-Ile-de-France, Service de Neurologie, FHU Phenix, Centre de Référence de Pathologie Neuromusculaire, Raymond Poincaré University Hospital, Garches, APHPCentre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HPCentre de Référence des Maladies Neuromusculaires AOC, Hôpital Pellegrin, CHU de BordeauxService de Neurologie du Pr Attarian, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Timone University Hospital, Aix-Marseille UniversityCentre de Réference des Maladies Neuromusculaires PACA Réunion Rhône Alpes Service de Neurologie, CHU de Saint-EtienneDepartment of Neurology, Centre Hospitalier Universitaire d’AngersService de Neurologie C, Hospices Civils de Lyon, Hôpital Neurologique Pierre WertheimerService Système Nerveux Périphérique & Muscle, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Centre Hospitalier Universitaire de Nice, Université Côte d’AzurAPHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, University Paris-EstDepartment of Rare Neurological Diseases, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, CHU de la RéunionCeRCa, Site Constitutif de Centre de Référence Caribéen des Maladies Neuromusculaires Rares, CHU de Martinique, Hôpital P. Zobda-QuitmanCHU de Rouen, NeurologiePhysiology and Exercise Laboratory EA4338, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Rhône-Alpes Bellevue Hospital, University Hospital Center of Saint-ÉtienneService de Médecine Physique et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de LyonDepartment of Clinical Neurophysiology, CHU Dijon BourgogneDepartment of Neurology, Nancy University HospitalLaboratoire d’Explorations Fonctionnelles, Hôtel-Dieu, Centre de Référence des Maladies Neuromusculaires AOC, CHU de NantesCentre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HPNord-Est-Ile-de-France, Service de Neurologie, FHU Phenix, Centre de Référence de Pathologie Neuromusculaire, Raymond Poincaré University Hospital, Garches, APHPService de Neurologie du Pr Attarian, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Timone University Hospital, Aix-Marseille UniversityService de Neurologie, CHU de Toulouse Purpan, Place du Docteur Baylac TSA 40031, 8. Centre de Référence des Maladies Neuromusculaires AOCAbstract 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.https://doi.org/10.1186/s13023-023-03008-6Spinal muscular atrophySMAMultidisciplinary team meetingClinical decision-makingTreatment |
| spellingShingle | Emmanuelle Salort-Campana Guilhem Solé Armelle Magot Céline Tard Jean-Baptiste Noury Anthony Behin Elisa De La Cruz François Boyer Claire Lefeuvre Marion Masingue Louise Debergé Armelle Finet Mélanie Brison Marco Spinazzi Antoine Pegat Sabrina Sacconi Edoardo Malfatti Ariane Choumert Rémi Bellance Anne-Laure Bedat-Millet Léonard Feasson Carole Vuillerot Agnès Jacquin-Piques Maud Michaud Yann Pereon Tanya Stojkovic Pascal Laforêt Shahram Attarian Pascal Cintas Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments Orphanet Journal of Rare Diseases Spinal muscular atrophy SMA Multidisciplinary team meeting Clinical decision-making Treatment |
| title | Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments |
| title_full | Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments |
| title_fullStr | Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments |
| title_full_unstemmed | Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments |
| title_short | Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments |
| title_sort | multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients a real life observatory for innovative treatments |
| topic | Spinal muscular atrophy SMA Multidisciplinary team meeting Clinical decision-making Treatment |
| url | https://doi.org/10.1186/s13023-023-03008-6 |
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