Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America (RegistrAME)

March 6, 2024 updated by: Otavio Berwanger, Hospital Israelita Albert Einstein

Protocol-LATAM RegistrAME: Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America - a Regional Registry

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Active, not recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Detailed Description

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
361

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • Argentina
      • Córdoba, Argentina
        • Clínica Universitaaria Reina Fabiola
      • Mendoza, Argentina
        • Hospital Pediátrico Humberto Notti
    • Caba
      • Buenos Aires, Caba, Argentina, Potosi 4135
        • Hospital Italiano de Buenos Aires
      • Buenos Aires, Caba, Argentina
        • Hospital de Pediatria J.P.Garrahan
    • Rivadavia 4951 PB 2 Caballito
      • Buenos Aires, Rivadavia 4951 PB 2 Caballito, Argentina, 1424
        • Private Office
  • Brazil
    • BA
      • Salvador, BA, Brazil
        • HUPES - Escola Bahiana de Medicina e Saúde Pública
    • MG
      • Belo Horizonte, MG, Brazil
        • UFMG - Universidade Federal de Minas Gerais - Hospital das Clínicas
    • Paraná
      • Curitiba, Paraná, Brazil
        • Hospital Infantil Pequeno Príncipe
    • RJ
      • Rio De Janeiro, RJ, Brazil
        • Instituto de Puericultura e Pediatria Martagão Gesteira da UFRJ
    • RS
      • Porto Alegre, RS, Brazil
        • HCPA - Hospital de Clinicas de Porto Alegre
    • SP
      • Campinas, SP, Brazil
        • Unicamp - Hospital de Clínicas da Universidade Estadual de Campinas
      • São Paulo, SP, Brazil
        • Hospital israelita Albert Einstein
      • São Paulo, SP, Brazil
        • Instituto da Criança do Hospital das Clínicas de São Paulo - FMUSP
  • Chile
      • Santiago, Chile
        • Clinica MEDS La Dehesa
  • Colombia
      • Bogotá, Colombia
        • Fundação Hospital da Misericórdia
      • Bogotá, Colombia
        • Instituto Roosevelt Pontifícia Universidade Javeriana
  • Mexico
      • Monterrey, Mexico
        • Hospital Christus Muguerza Alta Especialidade
  • Uruguay
      • Montevideo, Uruguay
        • Centro Hospitalario Pereira Rossell, Facultad de Medicina- Universidad de la Republica

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

2 weeks and older (Child, Adult, Older Adult)

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Type 1 SMA (with and without use of disease-modifying treatment (DMTs))
  • 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).
Type 2 SMA (with and without disease-modifying treatment (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).
Type 3 SMA (with and without disease-modifying treatment (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).
Type 4 SMA (with and without disease-modifying treatment (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).

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
24 months (Study duration time)

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Disease characteristics at first diagnosis.
Time Frame: Baseline
Early signs and symptoms leading to clinical diagnosis of SMA
Baseline

Other Outcome Measures

Other Outcome Measures

For clinical trials, a planned measurement described in the protocol that is used to determine the effect of an intervention/treatment on participants. For observational studies, a measurement or observation that is used to describe patterns of diseases or traits, or associations with exposures, risk factors, or treatment. Types of outcome measures include primary outcome measure and secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
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
24 months (Study duration time)
Time from SMA symptom onset until genetic diagnosis.
Time Frame: Baseline
To verify heterogeneity of access resources to genetic diagnosis.
Baseline
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.
24 months
Expanded Hammersmith Functional Motor Scale
Time Frame: 24 months
Hammersmith Functional Motor Scale-Expanded (HFMSE) scores range from 0 to 66,
24 months
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.
24 months
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.
24 months
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.
24 months (Study duration time)
History of hospitalizations
Time Frame: 24 months (Study duration time)
Records of need for hospitalizations
24 months (Study duration time)
History and characterization of previous surgical procedures and need for surgery
Time Frame: 24 months (Study duration time)
History of comorbidities
24 months (Study duration time)
Utilization of DMTs - Disease Modifying Treatments
Time Frame: 24 months (Study duration time)
History of use or non-use of DMTs
24 months (Study duration time)
Use of Medications
Time Frame: 24 months (Study duration time)
Analysis of the history of drugs used in the clinical routine of patients
24 months (Study duration time)
Pulmonary Function
Time Frame: 24 months (Study duration time)
Frequency and length of time of ventilatory support use
24 months (Study duration time)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Hospital Israelita Albert Einstein

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Biogen

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Otávio Berwanger, PhD, Hospital Albert Einstein
  • Study Director: Henrique Fonseca, PhD, Hospital Albert Einstein

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
August 17, 2022

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
August 30, 2024

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
January 30, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
July 19, 2022

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 24, 2022

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
July 27, 2022

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 8, 2024

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 6, 2024

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
March 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • Protocol-LATAM RegistrAME

Drug and device information, study documents

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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