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Completed

NCT Number: NCT07474311

A Real-World Study of Clinical Use of Available Treatments for Pediatric Patients With Spinal Muscular Atrophy

The aim of this study was to evaluate real-world treatment patterns and clinical outcomes in pediatric SMA patients in the Czech and Slovak Republics, using data from the Registry of muscular Dystrophy (REaDY).

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Key information

Conditions

Muscular Atrophy, Spinal Central Nervous System Diseases Motor Neuron Disease Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Novartis

Prague, 140 00, Czechia

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Patients ≤18 years of age on the index date.
  • Patients with genetically confirmed SMA.
  • Patients with a known examination on the index date.
  • Patients with a signed informed consent from their legal representative.

Exclusion criteria

None.

Treatment and study plan

Primary outcomes

  1. Number of Patients by Demographic Category

    Time frame: Baseline

    Demographics included:

    • Sex
    • SMA classification (presymptomatic, SMA I, II, III)
    • Screening (family, newborn, prenatal, no)
    • Mutation in gene (Non5q SMA, SMN1)
    • Number of copies of SMN2 gene

  2. Age at Diagnosis

    Time frame: Baseline

  3. Age at Symptom Onset

    Time frame: Baseline

  4. Weight

    Time frame: Baseline

  5. Number of Patients by Medical Examination Result

    Time frame: Baseline

    Medical examination result (yes/no) included:

    • Skin without affection
    • Throat calm
    • Respiration normal
    • Soft abdomen without resistance
    • Without swelling
    • Contractures present

  6. Blood Pressure

    Time frame: Baseline

    Systolic and diastolic blood pressure.

  7. Pulse

    Time frame: Baseline

    Heart beats per minute.

  8. Respiratory Rate

    Time frame: Baseline

    Breathes per minute.

  9. Number of Patients by Motor Function

    Time frame: Baseline

    Motor function (yes/no) included:

    • Head control
    • Rolling to the side
    • Sitting without support
    • Hands and knees crawling
    • Standing alone
    • Walking alone
    • Able to climb stairs
    • Wheelchair use
    • Function of hands

  10. Number of Patients by Feeding and Pulmonary Function

    Time frame: Baseline

    Feeding and pulmonary function included:

    • Feeding function (normal, nasogastric tube, percutaneous gastrostomy [PEG])
    • Ventilation (invasive, non-invasive, full-time, part-time)
    • Assistance in airway clearance and secretion mobilization (yes/no)
    • Forced Vital Capacity (FVC) done (yes/no)

  11. FVC

    Time frame: Baseline

    FVC is the volume of air that can forcibly be blown out after full inspiration.

  12. Number of Patients With a Physiotherapeutic Evaluation

    Time frame: Baseline

  13. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-Intend) Score

    Time frame: Baseline

    CHOP-Intend is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function.

  14. Hammersmith Functional Motor Scale Expanded (HFMSE) Score

    Time frame: Baseline

    The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.

  15. Revised Upper Limb Module (RULM) Score

    Time frame: Baseline

    RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows:

    • 0 - unable to perform the task
    • 1 - able to perform the task with some modification
    • 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.

  16. 6 Minute Walk Distance (6MWD)

    Time frame: Baseline

    The 6MWD test measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes.

  17. Number of Patients by Clinician's Rating of Patient's Current Severity of Illness

    Time frame: Baseline

    Based on the clinician's total clinical experience with people with SMA, severity of illness was rated by the clinician as follows:

    • 1 - Not at all affected
    • 2 - Borderline affected
    • 3 - Mildly affected
    • 4 - Moderately affected
    • 5 - Markedly affected
    • 6 - Severely affected
    • 7 - Among the most extremely affected individuals

  18. Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician

    Time frame: Baseline

    Change in condition was categorized as follows:

    • 2 - Much improved
    • 3 - Minimally improved
    • 4 - No change
    • 5 - Minimally worse
    • 6 - Much worse
    • 7 - Very much worse

  19. Number of Patients by Total Global Impression According to Patient or Parent

    Time frame: Baseline

    Global impression was categorized as follows:

    • Much improved
    • Minimally improved
    • No change
    • Minimally worse
    • Much worse
    • Very much worse

Secondary outcomes

  1. Change From Baseline in CHOP-Intend Score at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    CHOP-Intend is a tool used to measure the motor abilities in infants with SMA. It consists of 16 items scored on a scale from 0 (no response/unable to perform the movement) to 4 (complete response/able to perform the task). CHOP-Intend total score ranges from 0 to 64 with higher scores indicating higher motor function.

  2. Change From Baseline in HFMSE Score at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    The HFMSE is a validated SMA specific assessment devised for use in children with SMA to give objective information on motor ability and clinical progression. The HFMSE contains 33 items rated from 0 (unable to perform) to 2 (performs without modification/adaptation/compensation). Total scores range from 0-66. Higher scores indicate higher levels of motor ability.

  3. Change From Baseline in RULM Score at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    RULM is a tool used to assess upper limb function in SMA patients. It consists of 20 items in total. The first entry item classifies overall functional ability and is not scored. The remaining 19 tasks are scored with 1 task scored as can/cannot (1 is the highest score) and 18 tasks rated on a 3-point scale as follows:

    • 0 - unable to perform the task
    • 1 - able to perform the task with some modification
    • 2 - able to perform the task with no difficulty The total RULM score ranges from 0 to 37 with higher scores indicating better upper limb function.

  4. Change From Baseline in 6MWD at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    The 6MWD test measures the distance an individual is able to walk over a total of six minutes on a hard, flat surface. The goal is for the individual to walk as far as possible in six minutes.

  5. Change From Baseline in Number of Patients by Feeding and Pulmonary Function at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    Feeding and pulmonary function included:

    • Feeding function (normal, nasogastric tube, PEG)
    • Ventilation (invasive, non-invasive, full-time, part-time)
    • Assistance in airway clearance and secretion mobilization (yes/no)
    • FVC done (yes/no)

  6. Change From Baseline in FVC at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    FVC is the volume of air that can forcibly be blown out after full inspiration.

  7. Change From Baseline in Number of Patients by Clinician's Rating of Patient's Severity of Illness at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    Based on the clinician's total clinical experience with people with SMA, severity of illness was rated by the clinician as follows:

    • 1 - Not at all affected
    • 2 - Borderline affected
    • 3 - Mildly affected
    • 4 - Moderately affected
    • 5 - Markedly affected
    • 6 - Severely affected
    • 7 - Among the most extremely affected individuals

  8. Change From Baseline in Number of Patients by Change in Condition in the Last 6 Months as Assessed by the Clinician at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    Change in condition was categorized as follows:

    • 2 - Much improved
    • 3 - Minimally improved
    • 4 - No change
    • 5 - Minimally worse
    • 6 - Much worse
    • 7 - Very much worse

  9. Change From Baseline in Number of Patients by Total Global Impression According to Patient or Parent at Months 6, 12, 24, and 36

    Time frame: Baseline, 6, 12, 24, and 36 months

    Global impression was categorized as follows:

    • Much improved
    • Minimally improved
    • No change
    • Minimally worse
    • Much worse
    • Very much worse

  10. Incidence of SMA

    Time frame: 6, 12, 24, and 36 months

Sponsors and collaborators

Lead sponsor

Novartis Pharmaceuticals

Industry

Registry information

Official study title

Real-World Evidence of Clinical Use of Available Treatments for Pediatric Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Analysis Based on REaDY Registry

Important dates

Study start
2011
Primary completion
2025
Study completion
2025
First posted
Mar 16, 2026
Registry last updated
Mar 20, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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