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

Spinal Muscular Atrophy Clinical Trial

— RegistrAME  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05475691
• Other study ID #: Protocol-LATAM RegistrAME
• Status: Active, not recruiting
• Start date: August 17, 2022
• Est. completion date: January 30, 2025

Study information

• Verified date: March 2024
• Source: Hospital Israelita Albert Einstein
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 361
• Est. completion date: January 30, 2025
• Est. primary completion date: August 30, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 15 Days and older

Eligibility

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.

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy

Locations

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

Sponsors (2)

Lead Sponsor	Collaborator
Hospital Israelita Albert Einstein	Biogen

Countries where clinical trial is conducted

Argentina,  Brazil,  Chile,  Colombia,  Mexico,  Uruguay, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Duration of disease.	Time interval between the age of appearance of the first signs and symptoms to the current age	24 months (Study duration time)
Other	Time from SMA symptom onset until genetic diagnosis.	To verify heterogeneity of access resources to genetic diagnosis.	Baseline
Other	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.	24 months
Other	Expanded Hammersmith Functional Motor Scale	Hammersmith Functional Motor Scale-Expanded (HFMSE) scores range from 0 to 66,	24 months
Other	Revised Upper Limb Module	Revised Upper Limb Module (RULM) scores range from 0 to 37, with higher scores indicating better function.	24 months
Other	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.	24 months
Other	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.	24 months (Study duration time)
Other	History of hospitalizations	Records of need for hospitalizations	24 months (Study duration time)
Other	History and characterization of previous surgical procedures and need for surgery	History of comorbidities	24 months (Study duration time)
Other	Utilization of DMTs - Disease Modifying Treatments	History of use or non-use of DMTs	24 months (Study duration time)
Other	Use of Medications	Analysis of the history of drugs used in the clinical routine of patients	24 months (Study duration time)
Other	Pulmonary Function	Frequency and length of time of ventilatory support use	24 months (Study duration time)
Primary	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	Disease characteristics at first diagnosis.	Early signs and symptoms leading to clinical diagnosis of SMA	Baseline