Pharmacokinetic Study on N-acetylneuraminic Acid

Study Overview
=================
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.

Official Title
-----------------
Pharmacokinetic Study on N-acetylneuraminic Acid in Patients With Distal Myopathy With Rimmed Vacuoles (DMRV) - Hereditary Inclusion Body Myopathy (hIBM)

Conditions
-----------------
Nonaka Myopathy, Hereditary Inclusion Body Myopathy

Intervention / Treatment
-----------------
* Drug: NPC-09


Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 20 Years
Maximum Age: 40 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Treatment
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: NPC-09<br>Period 1: NPC-09 800mg single oral dosing NPC-09 800mg three times oral dosing a day Period 2: NPC-09 800mg three times oral dosing a day for 5 consecutive days | Drug: NPC-09<br>* NPC-09 tablet NPC-09 contains 50mg or 100mg N-acetylneuraminic acid (anhydride)<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in serum concentration of N-acetylneuraminic acid | Patients with DMRV(hIBM) show low serum N-acetylneuraminic acid level. | 24 hours before dosing and dosing days | 
| 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in serum concentration of N-glycolylneuraminic acid |  | 24 hours before dosing and dosing days | 
| 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 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
N-acetylneuraminic acid,, pharmacokinetics, hIBM