A clinical trial of steroid therapy for patients with FCMD caused by a homozygous(hetrozygous) 3kb insertion in FKTN gene.

JRCT ID: jRCT2031230211

Registered date:08/07/2023

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Fukuyama-type congenital muscular dystrophy
• Date of first enrollment: 14/07/2023
• Target sample size: 20
• Study type: Interventional

Intervention(s)

For patients with FCMD caused by a homozygous
1.0mg/kg of prednisolone every other day for 6 months

For patients with FCMD caused by a hetrozygous
1.0mg/kg of prednisolone every other day for 12 months

Outcome(s)

Primary Outcome

Physical examination
Vital signs
Electrocardiogram
Echocardiography
Ophthalmological examination
Clinical examination
Immunological test
Adverse events

Secondary Outcome

Gross Motor Function Measure
Change in muscle mass

Key inclusion & exclusion criteria

• Age minimum: >= 3age old
• Age maximum: <= 13age old

Include criteria

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

Exclude criteria

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

Related Information

• Primary Sponsor: Ishigaki Keiko
• Source(s) of Monetary Support: Japan Agency for Medical Research and Development