Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study

Spinal Muscular Atrophy Clinical Trial

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)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04404764
• Other study ID #: 27245419.0.0000.5259
• Status: Completed
• Start date: May 27, 2020
• Est. completion date: April 23, 2021

Study information

• Verified date: April 2021
• Source: Hospital Israelita Albert Einstein
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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).

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 155
• Est. completion date: April 23, 2021
• Est. primary completion date: April 23, 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 6 Months and older

Eligibility

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

Related Conditions & MeSH terms

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

Intervention

Drug:
• Nusinersen Injectable Product
The patient´s treatment is provided by SUS. The following dosage scheme of nurinersen is the one approved by ANVISA (Brazilian National Health Surveillance Agency): Nusinersen, 12 mg (5 mL) on days 0 (zero), 14 and 28. A fourth dose will be on day 63 with a maintenance dose once every 4 (four) months. The study will NOT have direct influence on the care received by patients. Data on adherence, interventions, hospitalizations, mechanical ventilation, procedures and adverse events will be obtained from the patients´ medical records.

Locations

Country	Name	City	State
Brazil	Universidade Federal de Minas Gerais - Hospital das Clínicas	Belo Horizonte
Brazil	Hospital de Clínicas da Universidade Estadual de Campinas - Unicamp	Campinas
Brazil	Associação Hospitalar de Prot Infancia Dr Raul Carneiro - Hospital Infantil Pequeno Príncipe	Curitiba
Brazil	Hospital Infantil Dr. Albert Sabin	Fortaleza
Brazil	Hospital de Clínicas de Porto Alegre	Porto Alegre
Brazil	Hospital Universitario Pedro Ernesto	Rio De Janeiro
Brazil	Instituto de Puericultura e Pediatria Martagão Gesteira da Universidade Federal do rio de Janeiro - UFRJ	Rio De Janeiro
Brazil	Hospital das Clínicas da Faculdade de Medicina de São Paulo - HCFMUSP	São Paulo
Brazil	Universidade Federal de São Paulo	São Paulo

Sponsors (2)

Lead Sponsor	Collaborator
Hospital Israelita Albert Einstein	Ministry of Health, Brazil

Country where clinical trial is conducted

Brazil, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Expanded Hammersmith Functional Motor Scale	Hammersmith Functional Motor Scale-Expanded (HFMSE) scores range from 0 to 66, with higher scores indicating better motor function.	Baseline
Secondary	Revised Upper Limb Module	Revised Upper Limb Module (RULM) scores range from 0 to 37, with higher scores indicating better function.	In the inclusion of the study
Secondary	WHO motor milestones	The six World Health Organization (WHO) motor milestones are sitting without support, standing with assistance, hands and knees crawling, walking with assistance, standing alone, and walking alone.	Unique evaluation at the time of inclusion
Secondary	Disease duration	Time between diagnosis and age at inclusion in the study	At the time of inclusion in the study
Secondary	Clinical features	SMN2 (gene copy number);	Unique evaluation
Secondary	History of hospitalizations	Records of need for hospitalizations	Documented in the period prior to the inclusion of the study
Secondary	History and characterization of previous surgical procedures	History of comorbidities	In the period prior to the inclusion of the study
Secondary	Treatment with nusinersen	To undergo intrathecal administration of nusinersen at a dose of 12 mg	Registration of the dose used at the time of inclusion in the study