Spinal muscular atrophy Nervous System Diseases
Conditions
Interventions
Spinal muscular atrophy (SMA) is the most common genetic cause of death for children below two years old. Previous studies by us and others have suggested that the fibrinolysis system is involved in n
Sponsors
Talengen Institute of Life Sciences
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: The subjects were diagnosed with type I SMA with SMN gene mutation or non-5q SMA with mutation in the gene encoding immunoglobulin-binding protein 2 (IGHMBP2), according to genetic tests and clinical symptoms
Exclusion criteria
Exclusion criteria: Patients receiving more than 16 hours of invasive ventilation per day
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Motor function scores measured using the CHOP INTEND scoring system at baseline and weeks 2, 6, 10, 22 and 46 | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Respiratory function measured by the value of blood oxygen saturation without Oxygen inhalation in pulse oximetry at baseline and weeks 2, 6, 10, 22 and 46 2. Anthropometric nutritional status measured using the proportion of high body weight, body fat, and growth parameters at baseline and weeks 10, 22 and 46 3. Adverse events assessed by routine blood test, blood biochemistry, coagulation function, hemolysis function, urine routine test, 12 lead ECG, physical examination, vital signs, etc measured using standard procedures at baseline, and weeks 22 and 46 | — |
Countries
China
Contacts
Public ContactChunying Guo
Outcome results
None listed