Clinical Trial on Spinal Muscular Atrophy - Clinical Trials Registry

Study Overview

Status

Recruiting

Conditions

Spinal Muscular Atrophy

Detailed Description

This is a retrospective, prospective, multicentre, non-randomized data collection study in Spain. The dataset collected is based on the TREAT-NMD SMA Core Dataset and the CuidAME steering committee consensus. The study collects pseudo-anonymized data, including data on genetic test results, clinical diagnoses, treatment, and outcome measures.

Patients will be followed based on the routine clinical practice schedule. Motor outcomes will be captured regularly, following the SMA standards of for care, for patients with a DMT every 6 months or at least once per year in patients without DMTs, for at least a 5-year follow-up period initially, which could be extended under agreement with funders of the study.

Participation in this study does not modify or influence any clinical decisions regarding the treatment the patient may receive, clinical assessments performed or frequency of visits.

The study will not collect data from patients participating in a clinical trial from the time they are enrolled. Data collected before the enrolment may be used, and data collection may continue after the end of the clinical trial. Data generated during a clinical trial could be used if written permission from the clinical trial sponsor is obtained.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Name: CUIDAME Project Manager
Phone Number: 0034 936 009 751
Email: info@registro-cuidame.org

Study Locations

Spain
- - Esplugues de Llobregat, Spain
    - Recruiting
    - Hospital Sant Joan De Deu

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Child
Adult
Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The study will collect data from SMA patients in Spain, independently of their treatment regimen, age, or disease status, from April 2020 onwards.

Description

Inclusion Criteria:

Genetically confirmed 5q SMA
Patient or caregivers written informed consent has been obtained (except for paediatric patients deceased).

Exclusion Criteria:

Further types of SMA (non-5q SMA).
Patient without legal capacity who cannot understand the nature, significance, and consequences of the project.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Subjects with Spinal Muscular Atrophy 5q

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Motor and functional status (WHO) Time Frame: Yearly through study completion, an average of 5 years	Motor status will be captured (all patients): WHO motor milestones: checklist that assesses whether a child can sit independently, crawl, stand with/without support, and walk with/without support. Changes in this score (loss or gain in function) and maintenance of score throughout study duration is assessed.	Yearly through study completion, an average of 5 years
Motor and functional status (CHOP INTEND) Time Frame: Yearly through study completion, an average of 5 years	Motor status will be captured (patients below two years of age): Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): maximum score of 64.	Yearly through study completion, an average of 5 years
Motor and functional status (HFMSE) Time Frame: Yearly through study completion, an average of 5 years	Motor status will be captured (patients over 36 months of age): Hammersmith Functional Motor Scale Expanded (HFMSE): maximum score of 66.	Yearly through study completion, an average of 5 years
Motor and functional status (RULM) Time Frame: Yearly through study completion, an average of 5 years	Motor status will be captured (patients obver 36 months of age): Revised Upper Limb Module (RULM): maximum score of 37.	Yearly through study completion, an average of 5 years
Motor and functional status (6MWT) Time Frame: Yearly through study completion, an average of 5 years	Motor status will be captured (ambulant patients): 6-Minute-Walk Test (6MWT): walked distance within 6 min.	Yearly through study completion, an average of 5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical SMA characteristics: mechanical ventilation Time Frame: Through study completion, an average of 5 years	Change in mechanical ventilation prevalence: percent of participants who required ventilatory support (invasive or non-invasive)	Through study completion, an average of 5 years
Clinical SMA characteristics: external nutrition Time Frame: Yearly through study completion, an average of 5 years	Change in external nutrition prevalence: percent of participants who required external nutrition support	Yearly through study completion, an average of 5 years
Clinical SMA characteristics: scoliosis Time Frame: Yearly through study completion, an average of 5 years	Change in scoliosis presence or scoliosis surgery prevalence: percent of participants who presented scoliosis and percent of participants with spinal surgery.	Yearly through study completion, an average of 5 years
Clinical SMA characteristics: neurodevelopmental developoment Time Frame: Yearly through study completion, an average of 5 years	Prevalence of neurodevelopmental disorders: percentage of patients who, after assessment by a neuropaediatrician, present with language, behavior, social or understanding alterations	Yearly through study completion, an average of 5 years
Clinical SMA characteristics: treatment sequence Time Frame: Yearly through study completion, an average of 5 years	change in treatments: distribution of patients in the different possible treatment sequences	Yearly through study completion, an average of 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fundació Sant Joan de Déu

Investigators

Study Chair: Andrés Nascimento, Hospital Sant Joan De Deu
Study Chair: Mónica Povedano Panadés, Hospital Universitari de Bellvitge
Study Chair: Francina Munell Casadesús, Hospital Universitari Vall d'Hebron
Study Chair: Miguel Angel Fernández García Miguel Angel Fernández García, Hospital Universitario La Paz
Study Chair: Inmaculada Pitarch Castellano, Hospital Universitario La Fe
Study Chair: Juan Francisco Vázquez Costa, Hospital Universitario La Fe
Study Chair: Maria Grazia Cattinari, Fundación Atrofia Muscular Espinal
Study Chair: Rocío Calvo, Hospital Universitario Regional De Malaga
Study Chair: Eduardo Martínez Salcedo, Hospital Universitario Virgen de La Arrixaca
Study Chair: Antonio Moreno Escribano, Hospital Universitario Virgen de La Arrixaca
Study Chair: Julita Medina Cantillo, Hospital Sant Joan De Deu

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Related Info

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 5, 2020

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

June 17, 2025

First Submitted That Met QC Criteria

November 14, 2025

First Posted (Actual)

November 17, 2025

Study Record Updates

Last Update Posted (Actual)