Long-term Efficacy of Carglumic Acid in Organic Acidemia.

National Taiwan University Hospital3 enrolled

Overview

Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)

Interventions

Carglumic Acid (Carbaglu®)DRUG

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.

Eligibility

Sex: ALLMin age: 0 YearsMax age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

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®

Locations (1)

National Taiwan University Hospital

Taipei, Taiwan

Outcomes

Primary Outcomes

Number of emergency visits due to hyperammonemia within 12 months period

Adverse Events

Time frame: 12 months

Secondary Outcomes

Time to first visit to the ER due to hyperammonemia from starting the treatment

Adverse Events

Time frame: 12 months

Assessment of Plasma ammonia level

Plasma ammonia level over the study treatment period.