Spinal Muscular Atrophy
Conditions
Keywords
registry, natural history, adult, pediatric
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.
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.
Interventions
None listed
Sponsors
Fundació Sant Joan de Déu
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Motor and functional status (6MWT) | 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. |
| Motor and functional status (WHO) | 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) | 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) | 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) | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Clinical SMA characteristics: mechanical ventilation | Through study completion, an average of 5 years | Change in mechanical ventilation prevalence: percent of participants who required ventilatory support (invasive or non-invasive) |
| Clinical SMA characteristics: external nutrition | Yearly through study completion, an average of 5 years | Change in external nutrition prevalence: percent of participants who required external nutrition support |
| Clinical SMA characteristics: scoliosis | 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. |
| Clinical SMA characteristics: neurodevelopmental developoment | 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 |
| Clinical SMA characteristics: treatment sequence | Yearly through study completion, an average of 5 years | change in treatments: distribution of patients in the different possible treatment sequences |
Countries
Spain
Contacts
Primary ContactCUIDAME Project Manager
Outcome results
None listed