Clinical trial NCT01236898: Pharmacokinetic Study on 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)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
Conditions: Nonaka Myopathy
Hereditary Inclusion Body Myopathy
Keywords: N-acetylneuraminic acid,
pharmacokinetics
hIBM
Lead sponsor: Tohoku University
Sponsor class: OTHER
First posted: 2010-11-09
Enrollment: 6
Sex: ALL
Minimum age (years): 20
Maximum age (years): 40
Standard ages: ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.


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

Primary outcomes:
measure: Change in serum concentration of N-acetylneuraminic acid
timeFrame: 24 hours before dosing and dosing days
measure: Change in pharmacokinetic parameters of N-acetylneuraminic acid: AUCt
timeFrame: 24 hours before dosing and dosing days
measure: Change in amount of urinary excretion of N-acetylneuraminic acid
timeFrame: 24 hours before dosing and dosing days
measure: Safety(adverse events)
timeFrame: Up to 5-7 days after dosing
Secondary outcomes:
measure: Change in serum concentration of N-glycolylneuraminic acid
timeFrame: 24 hours before dosing and dosing days
measure: Change in pharmacokinetic parameters of N-glycolylneuraminic acid: AUCt
timeFrame: 24 hours before dosing and dosing days
measure: Change in amount of urinary excretion of N-glycolylneuraminic acid
timeFrame: 24 hours before dosing and dosing days
Other outcomes:
Locations:
city: Sendai
country: Japan
facility: Tohoku University Hospital
state: Miyagi
Study officials:
affiliation: Tohoku University Hospital Internal Neurology
name: Masashi Aoki
role: PRINCIPAL_INVESTIGATOR
References: