Long-term Efficacy of Carglumic Acid in Organic Acidemia.

Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA) Clinical Trial

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT04284917
• Other study ID #: 201810033MIPB
• Status: Enrolling by invitation
• Phase: N/A
• Start date: November 28, 2019
• Est. completion date: December 2021

Study information

• Verified date: November 2019
• Source: National Taiwan University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 5
• Est. completion date: December 2021
• Est. primary completion date: December 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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®

Related Conditions & MeSH terms

• Acidosis
• Amino Acid Metabolism, Inborn Errors
• Propionic Acidemia
• Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)

Intervention

Drug:
• Carglumic Acid (Carbaglu®)
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. (Check Plasma Amino Acid Analysis, Ammonia, acylcarnitine profile, Urinary organic acid analysis.) 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.

Locations

Country	Name	City	State
Taiwan	National Taiwan University Hospital	Taipei

Sponsors (1)

Lead Sponsor	Collaborator
National Taiwan University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of emergency visits due to hyperammonemia within 12 months period	Adverse Events	12 months
Secondary	Time to first visit to the ER due to hyperammonemia from starting the treatment	Adverse Events	12 months
Secondary	Assessment of Plasma ammonia level	Plasma ammonia level over the study treatment period.	Baseline,3,6,9 and 12,months after receiving Carbaglu.
Secondary	Number of days of hospitalization	Number of days of hospitalization during study treatment period.	12 months
Secondary	Assessment of Acylcarnitine level	Acylcarnitine level for all patients	Baseline,3,6,9 and 12,months after receiving Carbaglu.
Secondary	Assessment of urine organic acid level	Measuring urine organic acid level for both diseases.	Baseline,3,6,9 and 12,months after receiving Carbaglu.
Secondary	Assessment of Plasma aminoacids' level	Measuring Plasma aminoacids' level for both diseases.	Baseline,3,6,9 and 12,months after receiving Carbaglu.