An observational study in Spinal Muscular Atrophy, sponsored by Hospital Israelita Albert Einstein. Active, not recruiting at 18 sites in 6 countries. Open to participants aged 15 Days and older. Per ClinicalTrials.gov, last updated 2024-03-08.
Sponsored by Hospital Israelita Albert Einstein · Observational
The natural history of SMA patients has changed, due to the improvements in treatment and technological advances. The systematic collection of data from routine clinical practice in multiple Latin American countries, harmonized to an internationally aligned core data set, is important to advancing the understanding the natural history of disease in the region and the influence of different drug treatments on patient outcomes. These data are critical to improving the care of these patients. So far, clinical trials regarding therapeutic approaches for SMA patients only cover a subgroup of the broad spectrum of severity of SMA. Thus, there is a strong need to monitor the full range of treated and untreated SMA patients in a real-world context.The aim of this study is to set up a regional healthcare provider (HCP) entered registry. The planned SMA registry will provide an online platform to collect longitudinal data on SMA patients across Latin America to achieve a better understanding of the clinical characteristics of SMA patients, the natural history of the disease, the use of DMTs and patients' outcomes, as well as to support further research projects and regional data generation.
This is a retrospective and prospective, multicenter non-randomized registry in Latin America. The variables included in the RegistrAME registry are based on the core items defined by the TREAT-NMD for SMA registries and the RegistrAME steering committee consensus. Items such as demographic characteristics, date of genetic test result, clinical diagnosis, functional status and pulmonary function, among others, are included in RegistrAME. The RegistrAME registry will allow the inclusion of retrospective clinical data in those centers where natural history studies of for spinal muscular atrophy are currently being conducted. RegistrAME will also offer a standardized structure for prospective data collection in all centers. The current aim of this registry is to include centres in LATAM meeting the structural and personnel requirements for performing the planned regular registry-related investigations. These reference centers in LATAM (Latin America) will be selected from COEs which 1) have the potential to enroll and make the proper patient follow up, 2) have experience in treating SMA, and 3) have experience in conducting clinical trials. An electronic Case Report Form (e-CRF) will be created by the ARO (Academic Research Organization) from Hospital Albert Einstein, using REDCap (Research Electronic Data Capture). The electronic Case Report Form (e-CRF) created to meet international standards for data protection and quality management, and to harmonize the platform with those currently used by other countries. No interventions will be performed in this study, the RegistrAME is observational study non-randomized, international multicenter study (Registration of patients in Latin America). Data collection aims to gather as much information as possible regarding the clinical profile of patients, interventions performed in the routine of care and clinical evolution over time (Real World Evidence-RWE). After confirmation of eligibility and informed consent, patients will undergo medical evaluation, and then retrospective data collection (when possible and limited to 6 months before the patient inclusion in the study), baseline data and continuation of longitudinal data collection will be started. Data entry is planned to be performed every carried out at intervals of 4 to 6 months (according to the type of SMA), depending on the regular healthcare planning of each clinical site. The study will assess disease progression, both the natural history of the disease and the effectiveness of different SMA specific drug treatments on patient outcomes. Duration of disease, survival with or without ventilatory support, motor function, pulmonary function, developmental milestones achieved, growth parameters, orthopedic symptoms, functional assessments (CHOP-INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders), HINE-2 (Hammersmith Infant Neuromuscular Examination - session 2), HFMSE (Hammersmith Motor Functional Scale Expanded), RULM (Revised Upper Limb Module), and 6MWT (The six minute walking test)) will be analyzed depending on the functional capacity of the patients and 5q SMA type over time.
282 studies on the registry are indexed under Muscular Atrophy, Spinal; 73 are open to participants now.
This study's enrollment of 361 is above the median of 139 across 114 observational studies indexed under Muscular Atrophy, Spinal.
Browse Muscular Atrophy, Spinal studies →Hospital Israelita Albert Einstein is the lead sponsor of 147 studies on the registry; 32 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with SMA 5q Types 1, 2, 3 and 4 (with and without disease-modifying treatment) of all ages and both sexes.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
* Participants of both sexes who presented signs and symptoms of Spinal Muscular Atrophy before six months of age and have a genetic report confirming 5q SMA. * No interventions will be performed in this study (RegistrAME is observational study (retrospective and prospective) non-randomized, international multicenter study- Registration of patients in Latin America). * Data collection aims to gather as much information as possible regarding the clinical profile of patients, interventions performed in the routine of care and clinical evolution over time (Real World Evidence-RWE). * The planned SMA registry will provide an online platform to collect longitudinal data on SMA patients across Latin America to achieve a better understanding of the clinical characteristics of SMA patients, the natural history of the disease and the use of DMTs (on participants who are using DMTs).
* Participants of both sexes who presented signs and symptoms of Spinal Muscular Atrophy starting between six and eighteen months of age and have a genetic report confirming 5q SMA. * No interventions will be performed in this study (RegistrAME is observational study (retrospective and prospective) non-randomized, international multicenter study- Registration of patients in Latin America). * Data collection aims to gather as much information as possible regarding the clinical profile of patients, interventions performed in the routine of care and clinical evolution over time (Real World Evidence-RWE). * The planned SMA registry will provide an online platform to collect longitudinal data on SMA patients across Latin America to achieve a better understanding of the clinical characteristics of SMA patients, the natural history of the disease and the use of DMTs (on participants who are using DMTs).
* Participants of both sexes who presented the first signs and symptoms of Spinal Muscular Atrophy starting after eighteen months of age and have a genetic report confirming 5q SMA. * No interventions will be performed in this study (RegistrAME is observational study (retrospective and prospective) non-randomized, international multicenter study- Registration of patients in Latin America). * Data collection aims to gather as much information as possible regarding the clinical profile of patients, interventions performed in the routine of care and clinical evolution over time (Real World Evidence-RWE). * The planned SMA registry will provide an online platform to collect longitudinal data on SMA patients across Latin America to achieve a better understanding of the clinical characteristics of SMA patients, the natural history of the disease and the use of DMTs (on participants who are using DMTs).
* Participants of both sexes and that the first symptoms of Spinal Muscular Atrophy appeared from the second or third decade of life and have a genetic report confirming 5q SMA. * No interventions will be performed in this study (RegistrAME is observational study (retrospective and prospective) non-randomized, international multicenter study- Registration of patients in Latin America). * Data collection aims to gather as much information as possible regarding the clinical profile of patients, interventions performed in the routine of care and clinical evolution over time (Real World Evidence-RWE). * The planned SMA registry will provide an online platform to collect longitudinal data on SMA patients across Latin America to achieve a better understanding of the clinical characteristics of SMA patients, the natural history of the disease and the use of DMTs (on participants who are using DMTs).
Describe the natural history of the disease (5q SMA in patients in Latin America) in a real-life context.
Characterization and description the evolution of the patient's condition over the time of data collection from the registry, to describe the natural history of the disease in a real-life context.
Time frame: 24 months (Study duration time)
Disease characteristics at first diagnosis.
Early signs and symptoms leading to clinical diagnosis of SMA
Time frame: Baseline
Duration of disease.
Time interval between the age of appearance of the first signs and symptoms to the current age
Time frame: 24 months (Study duration time)
Time from SMA symptom onset until genetic diagnosis.
To verify heterogeneity of access resources to genetic diagnosis.
Time frame: Baseline
Motor milestones over time.
Motor functions (unable to sit, sitting without support, walking with support; standing without Support; walking independently) will be evaluated over time.
Time frame: 24 months
Expanded Hammersmith Functional Motor Scale
Hammersmith Functional Motor Scale-Expanded (HFMSE) scores range from 0 to 66,
Time frame: 24 months
Revised Upper Limb Module
Revised Upper Limb Module (RULM) scores range from 0 to 37, with higher scores indicating better function.
Time frame: 24 months
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders Scale (CHOP-INTEND)
CHOP-INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) scores range from 0 to 64 with higher scores indicating better function.
Time frame: 24 months
Gain and loss of motor function
Analyze throughout the study "Shift up (gained motor function)", "No change" and "Shift down" (loss of motor function) over time, in the different types of 5qSMA with and without disease-modifying treatment.
Time frame: 24 months (Study duration time)
History of hospitalizations
Records of need for hospitalizations
Time frame: 24 months (Study duration time)
History and characterization of previous surgical procedures and need for surgery
History of comorbidities
Time frame: 24 months (Study duration time)
Utilization of DMTs - Disease Modifying Treatments
History of use or non-use of DMTs
Time frame: 24 months (Study duration time)
Use of Medications
Analysis of the history of drugs used in the clinical routine of patients
Time frame: 24 months (Study duration time)
Pulmonary Function
Frequency and length of time of ventilatory support use
Time frame: 24 months (Study duration time)
This study is active, not recruiting, as verified in Mar 2024. You cannot join it, but the record below documents what was studied.
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