spinal muscular atrophy
Conditions
Sponsors
Institute of Medical Genetics, Tokyo Women's Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: (1) Patients with SMN gene mutation proven by gene testing (2) patients of SMA types 1, 2 and 3. (3) Patients under age 8 when agreement was obtained. (both sexes accepted) (4) Patients who can visit the hospital as scheduled in clinical trials. (5)Patients with a representative (guardian) under conditions below 1)A fixed representative (guardian) can comprehend the status of the patient and observe the patient's daily activities as required in the clinical trial. 2)A fixed representative (guardian) can attend the hospital visits throughout the clinical trial period. 3)Management of medicine is definitely possible.
Exclusion criteria
Exclusion criteria: (1)Patients who have had an operation for spine scoliosis. (2)Patients on mechanical ventilator with tracheotomy or who are judged to require mechanical ventilation with tracheotomy by the investigator (or sub-investigator). (3)Patients who have received sodium valproate before the agreement was obtained. (4)Patient with severe liver dysfunction, renal dysfunction, and circulatory diseases. (judged referring to grade 3 of "Severity Criteria for Drug Adverse Reaction" Yaku-Ann No 80, issued by the chief of Registration Division the Pharmaceutical Affairs Bureau, Ministry of Welfare) (5)Patients given Riluzole, creatine, butyric acid compound, and steroid hormone within 8 weeks before the agreement was obtained. (6)Patients with epilepsy (7)Patients with malignant tumors (8)Patients with severe medical history of drug allergy such as anaphylactic shock, or serious side effect of drug. (9)Patients participating in other clinical trials and administered an investigational new drug within 12 weeks before obtaining the agreement for this clinical trial. (10) Patients scheduled to take a carbapenem antibiotic within the period from agreement to the end of observation and investigation, which will take 14 weeks. (11) Patients with urea cycle abnormalities. (12) Other patients judged to be unsuitable to join this clinical trial by the investigator (or sub-investigator).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Quantitative measurement of SMN protein by imaging flow cytometry technique | — |
Secondary
| Measure | Time frame |
|---|---|
| Quantitative measurement of SMN2mRNA, following up of body weight change, analyses of QOL by PedsQL, and evaluation of motor function by HFMSE or CHOP INTEND. | — |
Countries
Japan
Contacts
Public ContactKayoko Saito
Institute of Medical Genetics, Tokyo Women's Medical University
Outcome results
None listed