Clinical trial NCT04284917: Long-term Efficacy of Carglumic Acid in Organic Acidemia.
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).
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
Keywords: Carglumic Acid (Carbaglu®)
Lead sponsor: National Taiwan University Hospital
Sponsor class: OTHER
First posted: 2020-02-26
Enrollment: 3
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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: 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 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®

Primary outcomes:
measure: Number of emergency visits due to hyperammonemia within 12 months period
timeFrame: 12 months
Secondary outcomes:
measure: Time to first visit to the ER due to hyperammonemia from starting the treatment
timeFrame: 12 months
measure: Assessment of Plasma ammonia level
timeFrame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
measure: Number of days of hospitalization
timeFrame: 12 months
measure: Assessment of Acylcarnitine level
timeFrame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
measure: Assessment of urine organic acid level
timeFrame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
measure: Assessment of Plasma aminoacids' level
timeFrame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
measure: Assessment of Methylmalonic acid level
timeFrame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Other outcomes:
Locations:
city: Taipei
country: Taiwan
facility: National Taiwan University Hospital
Study officials:
affiliation: National Taiwan University Hospital
name: Ni-Chung Lee, M.D., Ph.D
role: PRINCIPAL_INVESTIGATOR
References: