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

NCT05475691 | Active Not Recruiting DMC

• 1 other identifier: Protocol-LATAM RegistrAME
• Study Type: observational
• Target: 361
• Locations: 6 countries
• Sites: 18

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.

Conditions

Spinal Muscular Atrophy

Keywords

Spinal Muscular Atrophy 1; Spinal Muscular Atrophy 2; Spinal Muscular Atrophy 3; Spinal Muscular Atrophy 4; SMN1 gene; Nusinersen; onasemnogene abeparvovec; Small molecule drug

Outcome Measures

Primary Outcomes (1)

• 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.

  24 months (Study duration time)

Secondary Outcomes (1)

• Disease characteristics at first diagnosis.

  Baseline

Other Outcomes (12)

• Duration of disease.

  24 months (Study duration time)

• Time from SMA symptom onset until genetic diagnosis.

  Baseline

• Motor milestones over time.

  24 months

Study Arms (4)

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).

Eligibility Criteria

• Age: 15 Days+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Hospital Israelita Albert Einstein: lead
• Biogen: collaborator

Study Sites (18)

Hospital Italiano de Buenos Aires

Buenos Aires, Buenos Aires F.D., Potosi 4135, Argentina

Location

Hospital de Pediatria J.P.Garrahan

Buenos Aires, Buenos Aires F.D., Argentina

Location

Private office

Buenos Aires, Rivadavia 4951 PB 2 Caballito, 1424, Argentina

Location

Clínica Universitaaria Reina Fabiola

Córdoba, Argentina

Location

Hospital Pediátrico Humberto Notti

Mendoza, Argentina

Location

HUPES - Escola Bahiana de Medicina e Saúde Pública

Salvador, Estado de Bahia, Brazil

Location

UFMG - Universidade Federal de Minas Gerais - Hospital das Clínicas

Belo Horizonte, Minas Gerais, Brazil

Location

Hospital Infantil Pequeno Príncipe

Curitiba, Paraná, Brazil

Location

Instituto de Puericultura e Pediatria Martagão Gesteira da UFRJ

Rio de Janeiro, Rio de Janeiro, Brazil

Location

HCPA - Hospital de Clínicas de Porto Alegre

Porto Alegre, Rio Grande do Sul, Brazil

Location

Unicamp - Hospital de Clínicas da Universidade Estadual de Campinas

Campinas, São Paulo, Brazil

Location

Hospital Israelita Albert Einstein

São Paulo, São Paulo, Brazil

Location

Instituto da Criança do Hospital das Clínicas de São Paulo - FMUSP

São Paulo, São Paulo, Brazil

Location

Clínica Meds La Dehesa

Santiago, Chile

Location

Fundação Hospital da Misericórdia

Bogotá, Colombia

Location

Instituto Roosevelt Pontifícia Universidade Javeriana

Bogotá, Colombia

Location

Hospital Christus Muguerza Alta Especialidade

Monterrey, Mexico

Location

Centro Hospitalario Pereira Rossell, Facultad de Medicina- Universidad de la Republica

Montevideo, Uruguay

Location

Related Publications (1)

• Batista EC, Zanoteli E, Monfardini F, Santos GPD, Silva GS, Berwanger O, Rizzo LV, Fonseca HARD. Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol. Einstein (Sao Paulo). 2024 Dec 9;22:eAE1133. doi: 10.31744/einstein_journal/2024AE1133. eCollection 2024.

  PMID: 39661851 DERIVED

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood; Spinal muscular atrophy 4; Spinal Muscular Atrophy, Type IV

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases; Heredodegenerative Disorders, Nervous System; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Otávio Berwanger, PhD

  Hospital Albert Einstein

  STUDY DIRECTOR

• Henrique Fonseca, PhD

  Hospital Albert Einstein

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 24 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director ARO (Academic Research Organization)

Study Record Dates

• First Submitted: July 19, 2022
• First Posted: July 27, 2022
• Study Start: August 17, 2022
• Primary Completion: August 30, 2024
• Study Completion: January 30, 2025
• Last Updated: March 8, 2024

Record last verified: 2024-03

Locations

UR (1); AR (5); BR (8); CO (2); CL (1); ME (1)