RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design
| Autor: | Isabelle Desguerre, F. Khan, Janbernd Kirschner, John W. Day, Richard S. Finkel, Marcus Droege, Perry B. Shieh, Frederick A. Anderson, Kayoko Saito, Omar H. Dabbous, Laurent Servais, Eugenio Mercuri, Susana Quijano-Roy, Eduardo F. Tizzano, Darryl C. De Vivo, Francesco Muntoni, Lydie Renault |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Research design
Research Report medicine.medical_specialty Psychological intervention rare disease long-term follow-up registry outcomes Muscular Atrophy Spinal 03 medical and health sciences 0302 clinical medicine Rare Diseases Quality of life NCT04174157 Health care Medicine Humans 030212 general & internal medicine Prospective Studies Registries Prospective cohort study business.industry Caregiver burden Spinal muscular atrophy prospective SMA Neurology Research Design Emergency medicine Observational study Neurology (clinical) multinational business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neuromuscular Diseases |
| ISSN: | 2214-3602 2214-3599 |
| Popis: | Background: 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 todocument their impact on patients and caregivers. Objectives: 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. Design and Methods: 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. Status: Recruitment started in September 2018. As of January 3, 2020, 64 patients were enrolled at 25 participating sites. Conclusions: The RESTORE Registry has begun recruiting recently diagnosed patients with genetically confirmed SMA, enabling assessment of both short- and long-term patient outcomes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|