Clinical trial NCT05475691: Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America
Official title: Protocol-LATAM RegistrAME: Longitudinal Data Collection in Pediatric and Adult Patients With Spinal Muscular Atrophy in Latin America - a Regional Registry
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
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
Lead sponsor: Hospital Israelita Albert Einstein
Sponsor class: OTHER
Collaborators: name: Biogen
First posted: 2022-07-27
Enrollment: 361
Sex: ALL
Minimum age (years): 15
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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.

Eligibility 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.

Primary outcomes:
measure: Describe the natural history of the disease (5q SMA in patients in Latin America) in a real-life context.
timeFrame: 24 months (Study duration time)
Secondary outcomes:
measure: Disease characteristics at first diagnosis.
timeFrame: Baseline
Other outcomes:
measure: Duration of disease.
timeFrame: 24 months (Study duration time)
measure: Time from SMA symptom onset until genetic diagnosis.
timeFrame: Baseline
measure: Motor milestones over time.
timeFrame: 24 months
measure: Expanded Hammersmith Functional Motor Scale
timeFrame: 24 months
measure: Revised Upper Limb Module
timeFrame: 24 months
measure: Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders Scale (CHOP-INTEND)
timeFrame: 24 months
measure: Gain and loss of motor function
timeFrame: 24 months (Study duration time)
measure: History of hospitalizations
timeFrame: 24 months (Study duration time)
measure: History and characterization of previous surgical procedures and need for surgery
timeFrame: 24 months (Study duration time)
measure: Utilization of DMTs - Disease Modifying Treatments
timeFrame: 24 months (Study duration time)
measure: Use of Medications
timeFrame: 24 months (Study duration time)
measure: Pulmonary Function
timeFrame: 24 months (Study duration time)
Locations:
city: Buenos Aires
country: Argentina
facility: Hospital Italiano de Buenos Aires
state: Caba
city: Buenos Aires
country: Argentina
facility: Hospital de Pediatria J.P.Garrahan
state: Caba
city: Buenos Aires
country: Argentina
facility: Private office
state: Rivadavia 4951 PB 2 Caballito
city: Córdoba
country: Argentina
facility: Clínica Universitaaria Reina Fabiola
city: Mendoza
country: Argentina
facility: Hospital Pediátrico Humberto Notti
city: Salvador
country: Brazil
facility: HUPES - Escola Bahiana de Medicina e Saúde Pública
state: BA
city: Belo Horizonte
country: Brazil
facility: UFMG - Universidade Federal de Minas Gerais - Hospital das Clínicas
state: MG
city: Curitiba
country: Brazil
facility: Hospital Infantil Pequeno Príncipe
state: Paraná
city: Rio De Janeiro
country: Brazil
facility: Instituto de Puericultura e Pediatria Martagão Gesteira da UFRJ
state: RJ
city: Porto Alegre
country: Brazil
facility: HCPA - Hospital de Clínicas de Porto Alegre
state: RS
city: Campinas
country: Brazil
facility: Unicamp - Hospital de Clínicas da Universidade Estadual de Campinas
state: SP
city: São Paulo
country: Brazil
facility: Hospital Israelita Albert Einstein
state: SP
city: São Paulo
country: Brazil
facility: Instituto da Criança do Hospital das Clínicas de São Paulo - FMUSP
state: SP
city: Santiago
country: Chile
facility: Clínica Meds La Dehesa
city: Bogotá
country: Colombia
facility: Fundação Hospital da Misericórdia
city: Bogotá
country: Colombia
facility: Instituto Roosevelt Pontifícia Universidade Javeriana
city: Monterrey
country: Mexico
facility: Hospital Christus Muguerza Alta Especialidade
city: Montevideo
country: Uruguay
facility: Centro Hospitalario Pereira Rossell, Facultad de Medicina- Universidad de la Republica
Study officials:
affiliation: Hospital Albert Einstein
name: Otávio Berwanger, PhD
role: STUDY_DIRECTOR
affiliation: Hospital Albert Einstein
name: Henrique Fonseca, PhD
role: STUDY_DIRECTOR
References: