Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
Conditions
Keywords
Carglumic Acid (Carbaglu®)
Brief summary
Evaluate the Long Term Effectiveness & Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
Detailed description
Study procedures: A. Study period: 36 months; treatment period: 12 months. B. Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12). C. Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12. D. Patients should report any adverse event that occur during treatment period. E. Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period.
Interventions
DRUGCarglumic Acid (Carbaglu®)
A. Study period: 36 months; treatment period: 12 months. B. Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12). C. Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12. D. Patients should report any adverse event that occur during treatment period. E. Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period.
Sponsors
National Taiwan University Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
0 Years to 18 Years
Healthy volunteers
Yes
Inclusion criteria
1. PA or MMA confirmed using the following criteria: * PA confirmed by the measurement of acylcarnitine profile, urine organic acid, measurement of propionyl Co-A carboxylase in leukocytes or cultured fibroblasts or by DNA molecular testing of PCCA (Propionyl CoA Carboxylase, Alpha Polypeptide) or PCCB (propionyl CoA carboxylase, beta polypeptide) gene * MMA confirmed by the measurement of acylcarnitine profile, urine organic acid, measurement of methymalonyl Co-A mutase in culture fibroblasts or DNA molecular testing of mutgene. 2. Male or female Children of 18 years old or less. 3. Had experienced Hyperammonemia(NH3 ≧100 uM) before. 4. Not participating in any other clinical trial in the previous 30 days
Exclusion criteria
1. Patients with other organic acidemia or any other cause of hyperammonemia 2. Patient receiving other investigational therapy for PA or MMA 3. Patient with PA or MMA and other inherited genetic conditions or congenital anomalies 4. Past history of hypersensitivity or drug allergy to Carbaglu®
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of emergency visits due to hyperammonemia within 12 months period | 12 months | Adverse Events |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of Plasma ammonia level | Baseline,3,6,9 and 12,months after receiving Carbaglu. | Plasma ammonia level over the study treatment period. |
| Number of days of hospitalization | 12 months | Number of days of hospitalization during study treatment period. |
| Assessment of Acylcarnitine level | Baseline,3,6,9 and 12,months after receiving Carbaglu. | Acylcarnitine level for all patients |
| Time to first visit to the ER due to hyperammonemia from starting the treatment | 12 months | Adverse Events |
| Assessment of Plasma aminoacids' level | Baseline,3,6,9 and 12,months after receiving Carbaglu. | Measuring Plasma aminoacids' level for both diseases. |
| Assessment of Methylmalonic acid level | Baseline,3,6,9 and 12,months after receiving Carbaglu. | Measuring Methylmalonic acid level for both diseases. |
| Assessment of urine organic acid level | Baseline,3,6,9 and 12,months after receiving Carbaglu. | Measuring urine organic acid level for both diseases. |
Countries
Taiwan
Outcome results
None listed