CuidAME: Longitudinal Data Collection From Patients With Spinal Muscular Atrophy in Spain

NCT07231549 | Recruiting DMC

• 1 other identifier: EOM-24-02
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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. Treated and untreated patients will be followed based on the routine clinical practice schedule.

Conditions

Spinal Muscular Atrophy

Keywords

registry; natural history; adult; pediatric

Outcome Measures

Primary Outcomes (5)

• 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.

  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.

  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.

  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.

  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.

  Yearly through study completion, an average of 5 years

Secondary Outcomes (5)

• Clinical SMA characteristics: mechanical ventilation

  Through study completion, an average of 5 years

• Clinical SMA characteristics: external nutrition

  Yearly through study completion, an average of 5 years

• Clinical SMA characteristics: scoliosis

  Yearly through study completion, an average of 5 years

• Clinical SMA characteristics: neurodevelopmental developoment

  Yearly through study completion, an average of 5 years

• Clinical SMA characteristics: treatment sequence

  Yearly through study completion, an average of 5 years

Study Arms (1)

Subjects with Spinal Muscular Atrophy 5q

Subjects with Spinal Muscular Atrophy 5q

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Fundació Sant Joan de Déu: lead

Study Sites (1)

Hospital Sant Joan de Déu

Esplugues de Llobregat, Spain

RECRUITING

Related Links

• Related Info

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• 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'Hebrón

  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 Málaga

  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

  STUDY CHAIR

Central Study Contacts

CUIDAME Project Manager

CONTACT

0034 936 009 751; info@registro-cuidame.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 17, 2025
• First Posted: November 17, 2025
• Study Start: May 5, 2020
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: November 17, 2025

Record last verified: 2025-02

Locations

ES (1)