Long-term Efficacy of Carglumic Acid in Organic Acidemia.

• Status: Enrolling by invitation
• Trial end date: 2021-12-01
• Target enrollment: 0
• Participant gender: All

Summary

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

• Phase: N/A
• Accepts Healthy Volunteers?: Accepts Healthy Volunteers

Details

• Lead Sponsor: National Taiwan University Hospital

Criteria

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®