Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America (RegistrAME)
|
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT05475691 |
|
Recruitment Status :
Recruiting
First Posted : July 27, 2022
Last Update Posted : January 3, 2023
|
Sponsor:
Hospital Israelita Albert Einstein
Collaborator:
Biogen
Information provided by (Responsible Party):
Otavio Berwanger, Hospital Israelita Albert Einstein
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Brief Summary:
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.
| Condition or disease |
|---|
| Spinal Muscular Atrophy |
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.
| Study Type : | Observational [Patient Registry] |
| Estimated Enrollment : | 300 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Target Follow-Up Duration: | 24 Months |
| Official Title: | Protocol-RegistrAME: Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America - a Regional Registry |
| Actual Study Start Date : | August 17, 2022 |
| Estimated Primary Completion Date : | August 30, 2024 |
| Estimated Study Completion Date : | January 30, 2025 |
Resource links provided by the National Library of Medicine
MedlinePlus Genetics related topics:
Spinal muscular atrophy
MedlinePlus related topics:
Spinal Muscular Atrophy
| Group/Cohort |
|---|
Type 1 SMA (with and without use of disease-modifying treatment (DMTs))
|
Type 2 SMA (with and without disease-modifying treatment (DMTs))
|
Type 3 SMA (with and without disease-modifying treatment (DMTs))
|
Type 4 SMA (with and without disease-modifying treatment (DMTs))
|
Primary Outcome Measures :
- Describe the natural history of the disease (5q SMA in patients in Latin America) in a real-life context. [ Time Frame: 24 months (Study duration time) ]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.
Secondary Outcome Measures :
- Disease characteristics at first diagnosis. [ Time Frame: Baseline ]Early signs and symptoms leading to clinical diagnosis of SMA
Other Outcome Measures:
- Duration of disease. [ Time Frame: 24 months (Study duration time) ]Time interval between the age of appearance of the first signs and symptoms to the current age
- Time from SMA symptom onset until genetic diagnosis. [ Time Frame: Baseline ]To verify heterogeneity of access resources to genetic diagnosis.
- Motor milestones over time. [ Time Frame: 24 months ]Motor functions (unable to sit, sitting without support, walking with support; standing without Support; walking independently) will be evaluated over time.
- Expanded Hammersmith Functional Motor Scale [ Time Frame: 24 months ]Hammersmith Functional Motor Scale-Expanded (HFMSE) scores range from 0 to 66,
- Revised Upper Limb Module [ Time Frame: 24 months ]Revised Upper Limb Module (RULM) scores range from 0 to 37, with higher scores indicating better function.
- Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders Scale (CHOP-INTEND) [ Time Frame: 24 months ]CHOP-INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) scores range from 0 to 64 with higher scores indicating better function.
- Gain and loss of motor function [ Time Frame: 24 months (Study duration time) ]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.
- History of hospitalizations [ Time Frame: 24 months (Study duration time) ]Records of need for hospitalizations
- History and characterization of previous surgical procedures and need for surgery [ Time Frame: 24 months (Study duration time) ]History of comorbidities
- Utilization of DMTs - Disease Modifying Treatments [ Time Frame: 24 months (Study duration time) ]History of use or non-use of DMTs
- Use of Medications [ Time Frame: 24 months (Study duration time) ]Analysis of the history of drugs used in the clinical routine of patients
- Pulmonary Function [ Time Frame: 24 months (Study duration time) ]Frequency and length of time of ventilatory support use
Information from the National Library of Medicine
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | 15 Days and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
Patients with SMA 5q Types 1, 2, 3 and 4 (with and without disease-modifying treatment) of all ages and both sexes.
Criteria
Inclusion Criteria:
- Genetically confirmed 5q SMA patients at all ages;
- Consent to participate in the study, expressed by the patient or responsible or legal guardian of the pediatric patient/ responsible or legal guardian of the patient with cognitive impairment of understanding the registration protocol.
Exclusion Criteria:
- Patients without a genetic diagnosis confirming SMA 5q;
- Other types of SMA (non 5q SMA);
- Patients who do not accept to participate in the observational study;
- Patients without the legal capacity who are unable to understand the nature, significance and consequences of participating in the registry, or, in such cases, without a legal or responsible guardian.
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05475691
Contacts
| Contact: Elice Carneiro Batista, PhD | +5511 2151-5780 | elice.batista@einstein.br | |
| Contact: Wilson Jose Milantoni | +55 11 97178-6171 | wilson.milantoni@einstein.br |
Locations
Show 20 study locations
Sponsors and Collaborators
Hospital Israelita Albert Einstein
Biogen
Investigators
| Study Director: | Otávio Berwanger, PhD | Hospital Albert Einstein |
| Responsible Party: | Otavio Berwanger, Director ARO (Academic Research Organization), Hospital Israelita Albert Einstein |
| ClinicalTrials.gov Identifier: | NCT05475691 |
| Other Study ID Numbers: |
Protocol-RegistrAME |
| First Posted: | July 27, 2022 Key Record Dates |
| Last Update Posted: | January 3, 2023 |
| Last Verified: | December 2022 |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
| Product Manufactured in and Exported from the U.S.: | No |
Keywords provided by Otavio Berwanger, Hospital Israelita Albert Einstein:
|
Spinal Muscular Atrophy 1 Spinal Muscular Atrophy 2 Spinal Muscular Atrophy 3 Spinal Muscular Atrophy 4 |
SMN1 gene Nusinersen onasemnogene abeparvovec Small molecule drug |
Additional relevant MeSH terms:
|
Muscular Atrophy Muscular Atrophy, Spinal Atrophy Pathological Conditions, Anatomical Neuromuscular Manifestations Neurologic Manifestations |
Nervous System Diseases Spinal Cord Diseases Central Nervous System Diseases Motor Neuron Disease Neurodegenerative Diseases Neuromuscular Diseases |