Spinal Muscular Atrophy. Spinal muscular atrophy, unspecified
Conditions
Interventions
Intervention 1: Intervention group 1: Patients with swallowing dysfunction will be candidates for receiving the injectable medication Nusinersen, while patients with spinal skeletal anomalies are not
for patients over 2 years old and weighing under 20 kg: 0.25 mg/kg/day
for patients over 2 years old and weighing over 20 kg: 5 mg/day. This medication is available under the brand name Evrysdi, produced by the pharmaceutical company Roche in Switzerland.
Sponsors
Shahid Beheshti University of Medical Sciences
Eligibility
Sex/Gender
All
Age
No minimum to 10 Years
Inclusion criteria
Inclusion criteria: children with SMA unde 18 y/o Without tracheostomy and non dependent on ventilator. minimum consumption of 6 months of Risdiplam syrup or at least 4 doses of Nusinersen injection
Exclusion criteria
Exclusion criteria: dependency on mechanical ventilation or tracheostomy Consumption of less than 6 months of Risdiplam syrup or fewer than 4 doses of Nusinersen injection
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| PCO2. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Blood Gas Analysis Test.;SpO2. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Pulseoximetry. | — |
Secondary
| Measure | Time frame |
|---|---|
| Forced Vital Capacity. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Spirometry.;Swallowing status. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Using the TREAT-NMD questionnaire.;Paradoxical breathing. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Inspection.;Chest circumference. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: With clinical chest examination.;Distance between two nipples. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: With clinical chest examination.;Upper to lower ribcage ratio. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Thoracoabdominal Xray.;Number of hospitalizations. Timepoint: During one year before the initiation of treatment, and comparing it with one year after the initiation of treatment. Method of measurement: History.;Episodes of respiratory illness not requiring hospitalization. Timepoint: During one year before the initiation of treatment, and comparing it with one year after the initiation of treatment. Method of measurement: History.;Patient Function. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Based on HFMS and 6-minute walk test for children over two years, and CHOP questionnaire for children under two years.;Respiratory status. Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measurement: Using the TREAT-NMD questionnaire.;Forced Expiratory Volume in one second(FEV1). Timepoint: Before starting the intervention and 6 and 12 months after starting the medication. Method of measur | — |
Countries
Iran (Islamic Republic of)
Contacts
Public ContactMehri Abbasi Aghdam
Shahid Beheshti University of Medical Sciences
Outcome results
None listed