Neutral Lipid Storage Disease With Myopathy (NLSD-M), Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV)
Conditions
Keywords
neutral lipid storage disease, CNT-02, primary triglyceride deposit cardiomyovasculopathy (TGCV), neutral lipid storage disease with myopathy (NLSD-M)
Brief summary
This study is planning to evaluate the safety and clinical efficacy of medium-chain fatty acid capsules (food-grade CNT-02) in subjects with primary triglyceride deposit cardiomyovasculopathy (TGCV) and neutral lipid storage disease with myopathy (NLSD-M) associated with adipose triglyceride lipase (ATGL) genetic defects.
Interventions
DIETARY_SUPPLEMENTCNT-02
Each subject will take 2.0g of the investigational product orally 3 times a day after every meal. Unless an apparent worsening of symptoms or unacceptable adverse event occurs, the subject will continue to take the investigational product for up to 6 months.
Sponsors
Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
20 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1. Patients for whom ATGL gene deletion has been previously confirmed. 2. Patients who can take the investigational product orally. 3. Male and female who are at least 20 years old at the time of consent. 4. Patients who gave written informed consent.
Exclusion criteria
1. Patients with diabetic ketoacidosis. 2. Patients with the possibility of diabetic ketoacidosis (patients with poorly controlled diabetes mellitus \[HbA1c\>8.4%, NGSP\]) 3. Patients with terminal malignancy. 4. Pregnant or lactating women. 5. Patients who do not consent to using contraception while participating in this study. 6. Patients allergic to MCT oil. 7. Patients participating in other clinical trial. 8. Otherwise, patients determined to be ineligible for this study by the investigator or sub-investigator.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The maximum walking distance in a 6-minute walk test at 6 months | 6 months | Measuring maximum walking distance of 6-minute walk test . Calculating variation of those measured values from baseline to 6 months. |
| The maximum walking distance in a 6-minute walk test at 3 months | 3 months | Measuring maximum walking distance of 6-minute walk test. Calculating variation of those measured values from baseline to 3 months. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| MRC sum score in manual muscle testing (MMT) at 6 months | 6 months | Evaluating muscle strength by manual muscle test used MRC score. Assessing change from baseline to 6 months. |
| Fractions of lung volume such as % vital capacity, measured by spirometer at 3 months | 3 months | Evaluating the respiratory functions by % Vital capacity measured by spirometer. Assessing change from baseline to 3 months. |
| Fractions of lung volume such as % vital capacity, measured by spirometer at 6 months | 6 months | Evaluating the respiratory functions by % Vital capacity measured by spirometer. Assessing change from baseline to 6 months. |
| The amount of fat measured by computed tomography (CT) of the skeletal muscle (fat deposition) at 3 months | 3 months | Evaluating fat deposition in the skeletal muscle by CT. Assessing change from baseline to 3 months. |
| Parameters of cardiac function, such as the left ventricular ejection fraction by echocardiography at 3 months | 3 months | Evaluating cardiac function using Left ventricular ejection fraction etc. by echocardiography. Assessing change from baseline to 3 months. |
| Parameters of cardiac function, such as the left ventricular ejection fraction by echocardiography at 6 months | 6 months | Evaluating cardiac function using Left ventricular ejection fraction etc. by echocardiography. Assessing change from baseline to 6 months. |
| Serum free fatty acid levels at 3 months | 3 months | Analysing concentration of fatty acids in serum using HPLC method. Assessing change from baseline to 3 months. |
| Serum free fatty acid levels at 6 months | 6 months | Analysing concentration of fatty acids in serum using HPLC method. Assessing change from baseline to 6 months. |
| The amount of fat measured by computed tomography (CT) of the skeletal muscle (fat deposition) at 6 months | 6 months | Evaluating fat deposition in the skeletal muscle by CT. Assessing change from baseline to 6 months. |
| MRC sum score in manual muscle testing (MMT) at 3 months | 3 months | Evaluating muscle strength by manual muscle test used MRC score. Assessing change from baseline to 3 months. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Incidence, severity, seriousness, causality, and outcomes of adverse events | 6 months | A frequency counting of the adverse events. LLT code will be assigned to the reported adverse event using the MedDRA dictionary. |
Countries
Italy, Japan
Outcome results
None listed