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

NCT04404764 | Completed

• 1 other identifier: 27245419.0.0000.5259
• Study Type: observational
• Target: 155
• Locations: 1 country
• Sites: 9

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).

Conditions

Spinal Muscular Atrophy

Keywords

Spinal Muscular Atrophy; Spinal Muscular Atrophy type II; Spinal Muscular Atrophy type III; Mutation in SMN1; Nusinersen

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (7)

• Revised Upper Limb Module

  In the inclusion of the study

• WHO motor milestones

  Unique evaluation at the time of inclusion

• Disease duration

  At the time of inclusion in the study

• Clinical features

  Unique evaluation

• History of hospitalizations

  Documented in the period prior to the inclusion of the study

Study Arms (2)

Treated with nusinersen at SUS

Patients with Spinal Muscular Atrophy (SMA) 5q types II and III treated with nusinersen in the Brazilian Unified Public Health System

Drug: Nusinersen Injectable Product

With indication to receive nusinersen at SUS

Patients with Spinal Muscular Atrophy (SMA) 5q types II and III with indication, but not yet receiving nusinersen treatment in the Brazilian Unified Public Health System

Interventions

Nusinersen Injectable Product DRUG

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.

Also known as: Spinraza

Treated with nusinersen at SUS

Eligibility Criteria

• Age: 6 Months+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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)

You may not qualify if:

• 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:
• First-degree family member or companion responsible for taking care of the patient with clinical diagnosis of SMA 5q type II or type III
• Illiteracy
• Refusal to participate in the study

Sponsors & Collaborators

• Hospital Israelita Albert Einstein: lead
• Ministry of Health, Brazil: collaborator

Study Sites (9)

Universidade Federal de Minas Gerais - Hospital das Clínicas

Belo Horizonte, Brazil

Location

Hospital de Clínicas da Universidade Estadual de Campinas - Unicamp

Campinas, Brazil

Location

Associação Hospitalar de Prot Infancia Dr Raul Carneiro - Hospital Infantil Pequeno Príncipe

Curitiba, Brazil

Location

Hospital Infantil Dr. Albert Sabin

Fortaleza, Brazil

Location

Hospital de Clínicas de Porto Alegre

Porto Alegre, Brazil

Location

Hospital Universitario Pedro Ernesto

Rio de Janeiro, Brazil

Location

Instituto de Puericultura e Pediatria Martagão Gesteira da Universidade Federal do rio de Janeiro - UFRJ

Rio de Janeiro, Brazil

Location

Hospital das Clínicas da Faculdade de Medicina de São Paulo - HCFMUSP

São Paulo, Brazil

Location

Universidade Federal de São Paulo

São Paulo, Brazil

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood

Interventions

nusinersen

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 Israelita Albert Einstein

  STUDY DIRECTOR

• Vanessa Teich, PhD

  Hospital Israelita Albert Einstein

  STUDY CHAIR

• Edmar Zanoteli, PhD

  University of Sao Paulo

  STUDY CHAIR

• Elice Batista, PhD

  Hospital Israelita Albert Einstein

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director

Study Record Dates

• First Submitted: May 19, 2020
• First Posted: May 27, 2020
• Study Start: May 27, 2020
• Primary Completion: April 23, 2021
• Study Completion: April 23, 2021
• Last Updated: April 27, 2021

Record last verified: 2021-04

Data Sharing

• IPD Sharing: Will not share

Locations

BR (9)