Mitochondrial disease, mainly to cranial nerve symptoms
Conditions
Interventions
Intervention type:DRUG
Name of intervention:SPP-004
Dose form / Japanese Medical Device Nomenclature:CAPSULE
Route of administration / Site of application:ORAL
Dose per administration:
5-ALA HCl 25 an
Sponsors
Saitama Medical University Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Japanese patients who meet all of the following criteria are included in this clinical trial. 1)Patients who were confirmed to be respiratory chain enzyme deficiency or mitochondrial gene abnormality by clinical findings in patients with suspected mitochondrial disease* 2)Patients aged ? 3 months and < 2 years at the acquisition of consent forms (premature infants are dealt as corrected age in month) 3) Patients with blood lactate-pyruvate ratio ?15.0 4) Patients with written informed consent from their legal representatives (persons in parental authority or guardians) *Patients with all of the followings 1 to 3, as well as one or more of the conditions in 4 1. Progressive neurological disorders associated with delayed motor and mental development 2. Symptoms or signs of disease in brain stem and/or cerebral basal ganglia 3. Increased lactate levels in blood and/or cerebrospinal fluid 4. Patients who meet one or more of the followings 1. Patients who have characteristic findings in images. (bilateral and symmetrical lesion of the brain stem or basal ganglia) 2. Patients with typical neuropathological changes (spongiform degeneration) 3. Patients with a sibling with similar symptoms
Exclusion criteria
Exclusion criteria: Patients who meet any of the following criteria are excluded from this trial. 1) Patients with mitochondrial cardiomyopathy 2) Patients with severe cardiac function or renal function disorders 3) Patients complicated by sepsis 4) Patients with a history of drug allergy 5) Patients with a history of hypersensitivity to any ingredients of the investigational drugs 6) Patients participated in another clinical study within 12 weeks prior to the informed consent. 7) Patients whom the investigator and subinvestigator considered inappropriate to participating this trial
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Section I-III | — |
Secondary
| Measure | Time frame |
|---|---|
| Life prognosis NPMDS Section I-IV FGF21 Weight Height Head circumference Respiratory chain complexes enzyme activity in dermal fibroblast (if informed consent is obtained) | — |
Countries
Japan
Contacts
Public ContactKazuo Nakamura
CTD Inc.
Outcome results
None listed