Fukuyama-type congenital muscular dystrophy (FCMD)
Conditions
Interventions
NS-035 group: NS-035 (40 mg/kg) and D-mannitol (500 mg/kg) administered intravenously once a week for 12 weeks. After transition to the open-label period, NS-035 (40 mg/kg) and D-mannitol (500 mg/kg)
Sponsors
Higashioka Masaya
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Patients with homozygous or complex heterozygous mutations in the fukutin gene and a definitive diagnosis of FCMD 2) Patients aged 5 to under 9 years at the time of consent 3) Patients whose legal guardian capable of providing informed consent has provided written informed consent upon thorough understanding of the study procedure. Efforts should be made so that the subjects themselves give voluntary assent after having been provided with an explanation according to their ability to understand. 4) Patients classified as typicalcases (peak motor function is maintaining a sitting position, independent sitting, or shuffling)
Exclusion criteria
Exclusion criteria: 1) Patients with percutaneous arterial oxygen saturation (SpO2) <95% 2) Patients who are continuously using a ventilator (NPPV can be used while sleeping) 3) Patients with Left ventricular ejection fraction (LVEF) <50% or fractional shortening (FS) <25% based on echocardiogram performed during the pre-observation period 4) Patients with a history of epilepsy who have had status epilepticus within the past year since the consent was obtained. 5) Patients undergoing gastric tube feeding
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Gross Motor Function Measure (GMFM-88) total score | — |
Secondary
| Measure | Time frame |
|---|---|
| - Glycosylation rate of alpha-DG - Expression of glycosilated alpha-DG - Exon-trapping inhibition efficiency - Serum CK levels - Assessment of activities of daily living (ADL) - Clinical global impression of improvement (CGI-I) | — |
Contacts
Public ContactOperations Clinical
Nippon Shinyaku Co., Ltd.
Outcome results
None listed