Long-term Efficacy of Carglumic Acid in Organic Acidemia.

National Taiwan University

Status: Completed

Conditions: Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)

Treatments: Drug: Carglumic Acid (Carbaglu®)

Study type: Interventional

Funder types: Other

Identifiers

NCT04284917

201810033MIPB

Details and patient eligibility

About

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

Full 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.

Enrollment: 3 patients

Sex: All

Ages: Under 18 years old

Volunteers: Accepts Healthy Volunteers

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®

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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3 participants in 1 patient group

Receive Carglumic Acid

Experimental group

Description:

Experimental Case_ Carglumic Acid

Treatment:

Drug: Carglumic Acid (Carbaglu®)