Long-term Efficacy of Carglumic Acid in Organic Acidemia.

Not Applicable

• Conditions: Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
• Interventions: Drug: Carglumic Acid (Carbaglu®)

• Registration Number: NCT04284917
• Lead Sponsor: National Taiwan University Hospital

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: 24 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 will be recorded during treatment period.

Study Timeline

• Status Verified: 2019-11
• Study Start: 2019-11-28
• Study First Submitted: 2020-02-24
• Study First Submitted QC: 2020-02-25
• Last Update Submitted: 2020-02-25
• Study First Posted: 2020-02-26
• Last Update Posted: 2020-02-26
• Primary Completion: 2021-12
• Study Completion: 2021-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 5

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

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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®

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Receive Carglumic Acid	Carglumic Acid (Carbaglu®)	Experimental Case_ Carglumic Acid

Primary Outcome Measures

Name	Time	Method
Number of emergency visits due to hyperammonemia within 12 months period	12 months	Adverse Events

Secondary Outcome Measures

Name	Time	Method
Time to first visit to the ER due to hyperammonemia from starting the treatment	12 months	Adverse Events
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
Assessment of urine organic acid level	Baseline,3,6,9 and 12,months after receiving Carbaglu.	Measuring urine organic acid level for both diseases.
Assessment of Plasma aminoacids' level	Baseline,3,6,9 and 12,months after receiving Carbaglu.	Measuring Plasma aminoacids' level for both diseases.

Trial Locations

Locations (1)

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan