Spinal Muscular AtrophyCUIDAMENCT07231549
CuidAME: Longitudinal Data Collection From Patients With Spinal Muscular Atrophy in Spain
An observational study of Spinal Muscular Atrophy, run by Fundació Sant Joan de Déu at 1 site in Spain.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Spinal Muscular Atrophy
- How many people
- 1,000 participants
- Where
- 1 siteSpain
- Study dates
- 5 May 2020to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Genetically confirmed 5q SMA
- Patient or caregivers written informed consent has been obtained (except for paediatric patients deceased).
Who cannot join
- Further types of SMA (non-5q SMA).
- Patient without legal capacity who cannot understand the nature, significance, and consequences of the project.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Spain1 site, 1 recruiting
- Recruiting
Hospital Sant Joan de Déu
Esplugues de Llobregat
About this study
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.
Read the 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.
- Conditions
- Spinal Muscular Atrophy
- Keywords
- registry, natural history, adult, pediatric
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Subjects with Spinal Muscular Atrophy 5q | Subjects with Spinal Muscular Atrophy 5q |
What is being measured
The primary outcome is the main question the study is designed to answer.
Motor and functional status (WHO)
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.
Measured: Yearly through study completion, an average of 5 years
Motor and functional status (CHOP INTEND)
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.
Measured: Yearly through study completion, an average of 5 years
Motor and functional status (HFMSE)
Motor status will be captured (patients over 36 months of age): Hammersmith Functional Motor Scale Expanded (HFMSE): maximum score of 66.
Measured: Yearly through study completion, an average of 5 years
Motor and functional status (RULM)
Motor status will be captured (patients obver 36 months of age): Revised Upper Limb Module (RULM): maximum score of 37.
Measured: Yearly through study completion, an average of 5 years
Motor and functional status (6MWT)
Motor status will be captured (ambulant patients): 6-Minute-Walk Test (6MWT): walked distance within 6 min.
Measured: Yearly through study completion, an average of 5 years
Secondary outcomes (5)
Clinical SMA characteristics: mechanical ventilation
Change in mechanical ventilation prevalence: percent of participants who required ventilatory support (invasive or non-invasive)
Measured: Through study completion, an average of 5 years
Clinical SMA characteristics: external nutrition
Change in external nutrition prevalence: percent of participants who required external nutrition support
Measured: Yearly through study completion, an average of 5 years
Clinical SMA characteristics: scoliosis
Change in scoliosis presence or scoliosis surgery prevalence: percent of participants who presented scoliosis and percent of participants with spinal surgery.
Measured: Yearly through study completion, an average of 5 years
Clinical SMA characteristics: neurodevelopmental developoment
Prevalence of neurodevelopmental disorders: percentage of patients who, after assessment by a neuropaediatrician, present with language, behavior, social or understanding alterations
Measured: Yearly through study completion, an average of 5 years
Clinical SMA characteristics: treatment sequence
change in treatments: distribution of patients in the different possible treatment sequences
Measured: Yearly through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Nov 2025
- Study start5 May 2020
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fundació Sant Joan de Déu
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Andrés Nascimento, Study chair, Hospital Sant Joan de DeuMónica Povedano Panadés, Study chair, Hospital Universitari de BellvitgeFrancina Munell Casadesús, Study chair, Hospital Universitari Vall d'HebrónMiguel Angel Fernández García Miguel Angel Fernández García, Study chair, Hospital Universitario La PazInmaculada Pitarch Castellano, Study chair, Hospital Universitario La FeJuan Francisco Vázquez Costa, Study chair, Hospital Universitario La FeMaria Grazia Cattinari, Study chair, Fundación Atrofia Muscular EspinalRocío Calvo, Study chair, Hospital Universitario Regional de Málaga
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07231549
- Sponsor's protocol ID
- EOM-24-02
- Acronym
- CUIDAME
- Status last verified
- Feb 2025
- First submitted
- 17 Jun 2025
- Last updated
- 17 Nov 2025
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 17 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- CuidAME: Longitudinal Data Collection From Patients With Spinal Muscular Atrophy in Spain
- ClinicalTrials.gov ID
- NCT07231549
- Acronym / sponsor ID
- CUIDAME / EOM-24-02
- Conditions
- Spinal Muscular Atrophy
- Keywords
- registry, natural history, adult, pediatric
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Fundació Sant Joan de DéuUniversity, hospital or other
- Study start
- 5 May 2020 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 17 Nov 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects with Spinal Muscular Atrophy 5q | – | –Subjects with Spinal Muscular Atrophy 5q |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- Genetically confirmed 5q SMA
- Patient or caregivers written informed consent has been obtained (except for paediatric patients deceased).
Key exclusion criteria (2 listed)
- Further types of SMA (non-5q SMA).
- Patient without legal capacity who cannot understand the nature, significance, and consequences of the project.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
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.
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.
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.
5 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Nov 2025.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Andrés Nascimento study chair
Hospital Sant Joan de Deu
Mónica Povedano Panadés study chair
Hospital Universitari de Bellvitge
Francina Munell Casadesús study chair
Hospital Universitari Vall d'Hebrón
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy, run by Fundació Sant Joan de Déu at 1 site in Spain.
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 2 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 17 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact CUIDAME Project Manager (0034 936 009 751, info@registro-cuidame.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Motor and functional status (WHO) (time frame: Yearly through study completion, an average of 5 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 17 Nov 2025.