Clinical trial NCT04404764: Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
Official title: Characterization of the Clinical-epidemiological Profile of Patients With Spinal Muscular Atrophy (SMA) 5q Types II and III in Follow-up in the Brazilian Unified Public Health System: A Cross-sectional Observational Study (Registry)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Spinal Muscular Atrophy
Keywords: Spinal Muscular Atrophy
Spinal Muscular Atrophy type II
Spinal Muscular Atrophy type III
Mutation in SMN1
Nusinersen
Lead sponsor: Hospital Israelita Albert Einstein
Sponsor class: OTHER
Collaborators: name: Ministry of Health, Brazil
First posted: 2020-05-27
Enrollment: 155
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Spinal Muscular Atrophy (SMA) 5q types II and III in follow-up in the Brazilian Unified Public Health System (SUS), undergoing treatment with nusinersen or not. For each patient included, a first-degree family member or companion responsible for taking care of the patient for most of the time will also be included, if they agree to participate in the study.

Brief summary: This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System (SUS). The study data will be based on patients´ medical records from several Brazilian public hospitals, which will be defined by the Brazilian Ministry of Health (MS).

Detailed description: This is a retrospective cross-sectional observational study to characterize the clinical and epidemiological profile of patients with spinal muscular atrophy (SMA) 5q types II and III, in follow-up at the Brazilian Unified Public Health System (SUS). This study aims to provide baseline data, which in the future may be used by the Brazilian Ministry of Health (MS) to assess the effectiveness of nusinersen. The clinical and epidemiological data will be collected from patients´ medical records, such as the score for the Hammersmith Functional Motor Scale - Expanded (HFMSE) and the Revised Upper Limb Module (RULM) at baseline, the WHO motor milestones at baseline, disease duration, age at the time of disease diagnosis, age at the time of disease screening, SMN2 (gene copy number), history of hospitalizations, history and characterization of previous surgical procedures, treatment dosage used, patient caregiver´s profile (ie, a family member or companion, who is responsible for taking care of the patient for most of the time). Other variables of interest that will also be collected are patient´s age and gender, geographic distribution, attending physician expertise and care structure where the patients were treated. The data acquisition will be performed using a paper and eletronic CRF (Case report Form). Written informed consent will be obtained from patients who meet the study elegibility criteria. The study will be performed in Brazilian public hospitals (centers) that are able to provide the treatment with nusinersen under the SUS scope. The total sample of patients and number of participating centers will be defined by the MS - SCTIE (Secretariat of Science, Technology and Strategic Supplies)/ DECIT (Department of Science and Technology). However, the initial estimation is a sample of 100 patients to be included in 10-15 centers.

Eligibility criteria: Patient Eligibility Criteria:

Inclusion Criteria:

* Participants of both sexes, in any age group, who have a clinical diagnosis of SMA 5q type II or type III, in follow-up at SUS, undergoing treatment with nusinersen or not
* Clinical and molecular diagnosis of SMA 5q type II (disease started after 6 months of age), or Clinical and molecular diagnosis of SMA 5q type III (disease started after 18 months of age)

Exclusion Criteria:

* Refusal to provide written informed consent (either the patient or a legal representative)
* Symptom onset after 19 years of age
* Need for invasive ventilatory support for 16 hours or more per day for more than 21 consecutive days
* Be participating or have participated in another clinical study aimed at specific treatment of SMA 5q other than with the drug nusinersen
* Having undergone treatment with gene therapy

Caretaker Eligibility Criteria:

Inclusion Criteria:

• First-degree family member or companion responsible for taking care of the patient with clinical diagnosis of SMA 5q type II or type III

Exclusion Criteria:

* Illiteracy
* Refusal to participate in the study

Primary outcomes:
measure: Expanded Hammersmith Functional Motor Scale
timeFrame: Baseline
Secondary outcomes:
measure: Revised Upper Limb Module
timeFrame: In the inclusion of the study
measure: WHO motor milestones
timeFrame: Unique evaluation at the time of inclusion
measure: Disease duration
timeFrame: At the time of inclusion in the study
measure: Clinical features
timeFrame: Unique evaluation
measure: History of hospitalizations
timeFrame: Documented in the period prior to the inclusion of the study
measure: History and characterization of previous surgical procedures
timeFrame: In the period prior to the inclusion of the study
measure: Treatment with nusinersen
timeFrame: Registration of the dose used at the time of inclusion in the study
Other outcomes:
Locations:
city: Belo Horizonte
country: Brazil
facility: Universidade Federal de Minas Gerais - Hospital das Clínicas
city: Campinas
country: Brazil
facility: Hospital de Clínicas da Universidade Estadual de Campinas - Unicamp
city: Curitiba
country: Brazil
facility: Associação Hospitalar de Prot Infancia Dr Raul Carneiro - Hospital Infantil Pequeno Príncipe
city: Fortaleza
country: Brazil
facility: Hospital Infantil Dr. Albert Sabin
city: Porto Alegre
country: Brazil
facility: Hospital de Clínicas de Porto Alegre
city: Rio De Janeiro
country: Brazil
facility: Hospital Universitario Pedro Ernesto
city: Rio De Janeiro
country: Brazil
facility: Instituto de Puericultura e Pediatria Martagão Gesteira da Universidade Federal do rio de Janeiro - UFRJ
city: São Paulo
country: Brazil
facility: Hospital das Clínicas da Faculdade de Medicina de São Paulo - HCFMUSP
city: São Paulo
country: Brazil
facility: Universidade Federal de São Paulo
Study officials:
affiliation: Hospital Israelita Albert Einstein
name: Otávio Berwanger, PhD
role: STUDY_DIRECTOR
affiliation: Hospital Israelita Albert Einstein
name: Vanessa Teich, PhD
role: STUDY_CHAIR
affiliation: University of Sao Paulo
name: Edmar Zanoteli, PhD
role: STUDY_CHAIR
affiliation: Hospital Israelita Albert Einstein
name: Elice Batista, PhD
role: PRINCIPAL_INVESTIGATOR
References: