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Spinal Muscular AtrophyNCT04404764

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

An observational study of Spinal Muscular Atrophy, run by Hospital Israelita Albert Einstein at 9 sites in Brazil.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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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). Read more about this study

Who is it for?
Ages 6 months and olderHealthy volunteers can take part
Conditions the study is for
Spinal Muscular Atrophy
What is being tested?
Nusinersen Injectable Product
Type of treatment
Injection or infusion
How many people
155 participants
Where
9 sitesBrazil
Study dates
27 May 2020to 23 Apr 2021
How long will I take part?
1 Day
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 6 months and older
  • All sexes
  • Healthy volunteers accepted
  • Child, Adult, Older adult

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.

Who may be able to join

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

Who cannot join

  • 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:
  • Illiteracy
  • Refusal to participate in the study

Trial locations and contacts

9 sites in 1 country.

9 sites in 1 country

Brazil9 sites

  • Universidade Federal de Minas Gerais - Hospital das Clínicas

    Belo Horizonte

  • Hospital de Clínicas da Universidade Estadual de Campinas - Unicamp

    Campinas

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

    Curitiba

  • Hospital Infantil Dr. Albert Sabin

    Fortaleza

  • Hospital de Clínicas de Porto Alegre

    Porto Alegre

  • Hospital Universitario Pedro Ernesto

    Rio de Janeiro

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

    Rio de Janeiro

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

    São Paulo

  • Universidade Federal de São Paulo

    São Paulo

Other trials in Brazil

About this 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)

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).

Read the 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.

Being tested
Nusinersen Injectable Product
Keywords
Spinal Muscular Atrophy, Spinal Muscular Atrophy type II, Spinal Muscular Atrophy type III, Mutation in SMN1, Nusinersen
Medical subject headings
Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Nusinersen Injectable ProductDrug

    Also called Spinraza

    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.

Study groups in NCT04404764
Study groupRoleWhat they receive
Treated with nusinersen at SUSPatients with Spinal Muscular Atrophy (SMA) 5q types II and III treated with nusinersen in the Brazilian Unified Public Health System
Receives: Drug: Nusinersen Injectable Product
With indication to receive nusinersen at SUSPatients 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

What is being measured

The primary outcome is the main question the study is designed to answer.

  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.

    Measured: Baseline

Secondary outcomes (7)

  1. Revised Upper Limb Module

    Revised Upper Limb Module (RULM) scores range from 0 to 37, with higher scores indicating better function.

    Measured: In the inclusion of the study

  2. 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.

    Measured: Unique evaluation at the time of inclusion

  3. Disease duration

    Time between diagnosis and age at inclusion in the study

    Measured: At the time of inclusion in the study

  4. Clinical features

    SMN2 (gene copy number);

    Measured: Unique evaluation

  5. History of hospitalizations

    Records of need for hospitalizations

    Measured: Documented in the period prior to the inclusion of the study

  6. History and characterization of previous surgical procedures

    History of comorbidities

    Measured: In the period prior to the inclusion of the study

  7. Treatment with nusinersen

    To undergo intrathecal administration of nusinersen at a dose of 12 mg

    Measured: Registration of the dose used at the time of inclusion in the study

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted27 May 2020
  2. Study start27 May 2020
  3. Primary completion23 Apr 2021
  4. Study completion23 Apr 2021

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Cross-sectional
Enrolment
155 participants (actual)
Target duration
1 Day
IDs, dates and publications
ClinicalTrials.gov ID
NCT04404764
Sponsor's protocol ID
27245419.0.0000.5259
Status last verified
Apr 2021
First submitted
19 May 2020
Last updated
27 Apr 2021
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Batista EC, Zanoteli E, Fonseca HAR, Polido GJ, Saute JAM, Ortega AB, Junior MCF, Oliveira ASB, de Souza PVS, Giannetti JG, Pessoa ALS, de Queiroz Campos Araujo AP, Neves MFT, da Silva RTB, Monfardini F, Dos Santos GP, Dos Santos Sampaio B, Moia DF, Junior FG, de Piano LPA, de Albuquerque CSN, Duarte FM, Aparecida Rodrigues Sant'Anna V, Pereira M, de Bortoli Livramento J, Vicente Pereira Soares R, Pedrosa DA, Teich V, Rizzo LV, Berwanger O, de Andrade JBC, Silva GS. Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study. Clin Genet. 2026 Aug;110(2):172-188. doi: 10.1111/cge.70176. Epub 2026 May 8.

    PubMed 42104555

Questions about this trial

What is this clinical trial studying?

An observational study of Spinal Muscular Atrophy, run by Hospital Israelita Albert Einstein at 9 sites in Brazil.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 27 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 9 sites in Brazil. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Expanded Hammersmith Functional Motor Scale (time frame: Baseline). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04404764, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Apr 2021.

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