A clinical trial of steroid therapy for patients with FCMD caused by a homozygous(hetrozygous) 3kb insertion in FKTN gene.
- Conditions
- Fukuyama-type congenital muscular dystrophy
- Registration Number
- JPRN-jRCT2031230211
- Lead Sponsor
- Ishigaki Keiko
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 20
For patients with FCMD caused by a homozygous
1) Patients who completed the TWMU-FCMD-01 study
2) 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.
For patients with FCMD caused by a hetrozygous
1) Patient with FCMD and a compound heterozygous type with a confirmed diagnosis by genetic testing and a unilateral genetic mutation
2) Patients aged 3 to 13 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 who are expected to survive over one year
5) Patients whose motor function has clearly deteriorated by confirming upper extremity function, shuffling distance, or sitting time at 2 points in the pre-observation period and at least 3 months before
1) History of hypersensitivity to the Prednisolone
2) Patients with infections or systemic mycoses for which there are no effective antibacterial agents
3) Patients with peptic ulcer
4) Patients with tuberculous infections
5) Patients with electrolyte abnormality
6) Patients with thrombosis
7) Patients with a history of acute myocardial infarction
8) Patients with insomnia and panic reaction
9) Patients who received other investigational drugs , study drugs or aspirin within 3 months before the start of administration of the Prednisolone
10) Previous exposure to Prednisolone (Short-term history of steroid treatment as acute treatment for bronchial asthma and short-term history of topical drug treatment not intended for FCMD treatment are excluded.)
11) Patients who are judged by the investigator (or subinvestigator) to be inappropriate for this clinical trial for any reason
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Physical examination<br>Vital signs<br>Electrocardiogram<br>Echocardiography<br>Ophthalmological examination<br>Clinical examination<br>Immunological test<br>Adverse events
- Secondary Outcome Measures
Name Time Method Gross Motor Function Measure<br>Change in muscle mass