RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design
<p><strong>Background:</strong> 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 emerg...
| Main Authors: | , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
IOS Press
2020
|
| _version_ | 1826266836625260544 |
|---|---|
| author | Finkel, RS Day, JW De Vivo, DC Kirschner, J Mercuri, E Muntoni, F Shieh, PB Tizzano, E Desguerre, I Quijano-Roy, S Saito, K Droege, M Dabbous, O Khan, F Renault, L Anderson, FA Servais, L |
| author_facet | Finkel, RS Day, JW De Vivo, DC Kirschner, J Mercuri, E Muntoni, F Shieh, PB Tizzano, E Desguerre, I Quijano-Roy, S Saito, K Droege, M Dabbous, O Khan, F Renault, L Anderson, FA Servais, L |
| author_sort | Finkel, RS |
| collection | OXFORD |
| description | <p><strong>Background:</strong> 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.</p>
<p><strong>Objectives:</strong> 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.
<p><strong>Design and Methods:</strong> 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.</p>
<p><strong>Status:</strong> Recruitment started in September 2018. As of January 3, 2020, 64 patients were enrolled at 25 participating sites.</p>
<p><strong>Conclusions:</strong> The RESTORE Registry has begun recruiting recently diagnosed patients with genetically confirmed SMA, enabling assessment of both short- and long-term patient outcomes.</p> |
| first_indexed | 2024-03-06T20:45:00Z |
| format | Journal article |
| id | oxford-uuid:35951639-d4ad-449a-8b02-580ee45feeef |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T20:45:00Z |
| publishDate | 2020 |
| publisher | IOS Press |
| record_format | dspace |
| spelling | oxford-uuid:35951639-d4ad-449a-8b02-580ee45feeef2022-03-26T13:32:53ZRESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study designJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:35951639-d4ad-449a-8b02-580ee45feeefEnglishSymplectic ElementsIOS Press2020Finkel, RSDay, JWDe Vivo, DCKirschner, JMercuri, EMuntoni, FShieh, PBTizzano, EDesguerre, IQuijano-Roy, SSaito, KDroege, MDabbous, OKhan, FRenault, LAnderson, FAServais, L<p><strong>Background:</strong> 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.</p> <p><strong>Objectives:</strong> 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. <p><strong>Design and Methods:</strong> 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.</p> <p><strong>Status:</strong> Recruitment started in September 2018. As of January 3, 2020, 64 patients were enrolled at 25 participating sites.</p> <p><strong>Conclusions:</strong> The RESTORE Registry has begun recruiting recently diagnosed patients with genetically confirmed SMA, enabling assessment of both short- and long-term patient outcomes.</p> |
| spellingShingle | Finkel, RS Day, JW De Vivo, DC Kirschner, J Mercuri, E Muntoni, F Shieh, PB Tizzano, E Desguerre, I Quijano-Roy, S Saito, K Droege, M Dabbous, O Khan, F Renault, L Anderson, FA Servais, L RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design |
| title | RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design |
| title_full | RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design |
| title_fullStr | RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design |
| title_full_unstemmed | RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design |
| title_short | RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design |
| title_sort | restore a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy rationale and study design |
| work_keys_str_mv | AT finkelrs restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT dayjw restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT devivodc restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT kirschnerj restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT mercurie restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT muntonif restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT shiehpb restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT tizzanoe restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT desguerrei restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT quijanoroys restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT saitok restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT droegem restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT dabbouso restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT khanf restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT renaultl restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT andersonfa restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign AT servaisl restoreaprospectivemultinationalregistryofpatientswithgeneticallyconfirmedspinalmuscularatrophyrationaleandstudydesign |