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

NCT07474311 | Completed

• 1 other identifier: COAV101A1CZ01R
• Study Type: observational
• Target: 213
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

Muscular Atrophy, Spinal

Keywords

Spinal Muscular Atrophy; Real-World Evidence; Retrospective Study; Patient Registry; Disease-Modifying Therapy

Outcome Measures

Primary Outcomes (19)

• Number of Patients by Demographic Category

  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

  Baseline

• Age at Diagnosis

  Baseline

• Age at Symptom Onset

  Baseline

• Weight

  Baseline

• Number of Patients by Medical Examination Result

  Medical examination result (yes/no) included: * Skin without affection * Throat calm * Respiration normal * Soft abdomen without resistance * Without swelling * Contractures present

  Baseline

• Blood Pressure

  Systolic and diastolic blood pressure.

  Baseline

• Pulse

  Heart beats per minute.

  Baseline

• Respiratory Rate

  Breathes per minute.

  Baseline

• Number of Patients by Motor Function

  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

  Baseline

• Number of Patients by Feeding and Pulmonary Function

  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)

  Baseline

• FVC

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

  Baseline

• Number of Patients With a Physiotherapeutic Evaluation

  Baseline

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

  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.

  Baseline

• Hammersmith Functional Motor Scale Expanded (HFMSE) Score

  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.

  Baseline

• Revised Upper Limb Module (RULM) Score

  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.

  Baseline

• 6 Minute Walk Distance (6MWD)

  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.

  Baseline

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

  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

  Baseline

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

  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

  Baseline

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

  Global impression was categorized as follows: * Much improved * Minimally improved * No change * Minimally worse * Much worse * Very much worse

  Baseline

Secondary Outcomes (10)

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

  Baseline, 6, 12, 24, and 36 months

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

  Baseline, 6, 12, 24, and 36 months

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

  Baseline, 6, 12, 24, and 36 months

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

  Baseline, 6, 12, 24, and 36 months

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

  Baseline, 6, 12, 24, and 36 months

Study Arms (4)

Czech Cohort A

Pediatric SMA patients from Czech sites who received at least one disease modifying therapy (DMT). Patients were further categorized into treatment groups and by SMA type and birth date.

Czech Cohort B

Pediatric SMA patients from Czech sites who did not receive a DMT.

Slovak Cohort A

Pediatric SMA patients from Slovak sites who received at least one DMT. Patients were further categorized into treatment groups and by SMA type and birth date.

Slovak Cohort B

Pediatric SMA patients from Slovak sites who did not receive a DMT.

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric patients enrolled in the REaDY registry by 13 March 2025.

You may qualify if:

• 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.

You may not qualify if:

• None.

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (1)

Novartis

Prague, 140 00, Czechia

Location

Related Links

• Link to study results

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

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 11, 2026
• First Posted: March 16, 2026
• Study Start: November 22, 2011
• Primary Completion: March 13, 2025
• Study Completion: March 13, 2025
• Last Updated: March 20, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

CZ (1)