CuidAME: Longitudinal Data Collection From Patients With Spinal Muscular Atrophy in Spain
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Spinal Muscular Atrophy. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Spain
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
The goal of this observational study is to set up a longitudinal data collection study to perform a long-term follow-up of SMA patients in a real-world setting, and to standardise and homogenize the data collection process for SMA patient's data. Treated and untreated patients will be followed based on the routine clinical practice schedule.
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.
Primary outcome measures
- Motor and functional status (WHO) [Time frame: 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 and functional status (HFMSE) [Time frame: 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 and functional status (6MWT) [Time frame: Yearly through study completion, an average of 5 years]
Secondary outcome measures (5)
- Clinical SMA characteristics: mechanical ventilation [Time frame: Through study completion, an average of 5 years]
- Clinical SMA characteristics: external nutrition [Time frame: Yearly through study completion, an average of 5 years]
- Clinical SMA characteristics: scoliosis [Time frame: 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]
- Clinical SMA characteristics: treatment sequence [Time frame: Yearly through study completion, an average of 5 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Spain · 1 center
- Hospital Sant Joan de Déu — Esplugues de Llobregat
Identifiers
NCT: NCT07231549 · EOM-24-02