Evaluation of the effecacy and safety of Risdiplam and Nusinersen in patients with Spinal Muscular Atrophy ??(SMA)

Not Applicable

Recruiting

• Conditions: Spinal muscular atrophy.; Spinal muscular atrophy and related syndromes

• Registration Number: IRCT20131012014988N8
• Lead Sponsor: Tabriz University of Medical Sciences

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 13 November 2023

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

Definitive genetic diagnosis of homozygous gene mutation or deletion(5q SMA)
Patients with equal or less than 10 years old
SMN2 copy number is 2 to 4

Exclusion Criteria

Active infection requiring systemic antibiotic or antiviral treatment up to 2 weeks after recovery
Existence of concomitant incurable diseases (history of asphyxia, seizures, severe liver, cardiovascular, and endocrine envolvement)
Liver failure (due to the possibility of increased drug levels) (Child Pugh class C)
receiving metformin (for risdiplam)
Lactation and pregnancy
History of recent eye diseases (uncontrolled glaucoma) (for Risdiplam)
Existence of severe kyphoscoliosis or corrective surgery (for Nocinersen)
Having a CNS shunt and CSF catheter (for Nocinersen)
History of bacterial meningitis (for nosinersen)

Study & Design

• Study Type: interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Assessment of motor function. Timepoint: One month, three months, and six months, and if possible, one year after starting the drug. Method of measurement: At the end of the 1st, 3rd, and 6th months from the start of treatment, a pediatric neurologist or a pediatric neurology fellowship will visit and perform CHOP INTENT, HFMSE, RULM, and SMAIS tests for patients.;Amplitude changes in NCS. Timepoint: Every three months for SMA-1 and every six months for SMA-2,3. Method of measurement: A physical medicine and rehabilitation specialist (a permanent member of the research group) will evaluate the CMAP amplitude changes of a single nerve.;Drug side effects evaluation. Timepoint: Every 2 weeks in the first month and then monthly by asking the patients themselves or their parents. Method of measurement: by asking the patients themselves or their parents.