Hereditary Inclusion Body Myopathy, Nonaka Myopathy
Conditions
Keywords
N-acetylneuraminic acid,, pharmacokinetics, hIBM
Brief summary
The aim of this study is to investigate pharmacokinetics and safety of N-acetylneuraminic acid in patients with Distal myopathy with rimmed vacuoles (DMRV) - hereditary inclusion body myopathy (hIBM). Dosages are 800mg single and three times a day and 800mg 3 times a day for 5 consecutive days. N-acetylneuraminic acid and N-glycolylneuraminic acid in serum and urine are measured before and after oral administration of N-acetylneuraminic acid.
Interventions
DRUGNPC-09
NPC-09 tablet NPC-09 contains 50mg or 100mg N-acetylneuraminic acid (anhydride)
Sponsors
Tohoku University
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
20 Years to 40 Years
Healthy volunteers
No
Inclusion criteria
* Confirmed mutations in GNE gene * No severe complications when informed consent is obtained * More than 40 kg in weight before administration
Exclusion criteria
* Hepatic laboratory parameters (AST, ALT, γ-GTP) or Renal laboratory parameters (Cr, BUN) are greater than three times of upper limit of reference value * Presence or history of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, gastrointestinal, brain, psychiatric, neurologic disease * Intake of supplement contains sialic acid, St. John's wort or grapefruit within 7 days * Enrollment in another investigational study within 3 months * More than 400 mL blood donation within 3 months * Presence of alcohol or drug dependency * Women who are pregnant , breast feeding or possible to be pregnant. * Patients whom the investigator judges not to be appropriate for the subject
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in serum concentration of N-acetylneuraminic acid | 24 hours before dosing and dosing days | Patients with DMRV(hIBM) show low serum N-acetylneuraminic acid level. |
| Change in pharmacokinetic parameters of N-acetylneuraminic acid: AUCt | 24 hours before dosing and dosing days | — |
| Change in amount of urinary excretion of N-acetylneuraminic acid | 24 hours before dosing and dosing days | — |
| Safety(adverse events) | Up to 5-7 days after dosing | — |
Secondary
| Measure | Time frame |
|---|---|
| Change in pharmacokinetic parameters of N-glycolylneuraminic acid: AUCt | 24 hours before dosing and dosing days |
| Change in amount of urinary excretion of N-glycolylneuraminic acid | 24 hours before dosing and dosing days |
| Change in serum concentration of N-glycolylneuraminic acid | 24 hours before dosing and dosing days |
Countries
Japan
Outcome results
None listed