Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
- Registration Number
- NCT02426775
- Brief Summary
A Phase IIIb (Three b), Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Carbaglu® clinical experience in Organic Acidemia (OA) is limited to a non-comparative retrospective collection of data from patients who had received Carbaglu® for 1 to 15 days.
There is no current evidence supporting the use of carglumic acid for the chronic management of patients with OA. The investigators are proposing a randomized multicentre prospective clinical trial to evaluate long-term effects of the use of Carbaglu® (50mg/kg/day) combined with standard chronic therapy in patients with PA and MMA compared to standard chronic therapy alone.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 33
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Male or female Children of 15 years old or less
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Parent or legal guardian agree to participate and to sign the (Institutional Review Board) IRB approved Informed Consent Form (assent forms will be waived due to the mental disability of those children)
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Not participating in any other clinical trial in the previous 30 days
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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.
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Expected survival of at least 6 months, for the purpose of this study Survival expectance will be defined as patient not admitted to the Pediatric Intensive Care Unit (PICU) due to hyperammonemia more than 2 times per year or asymptomatic patients diagnosed by newborn screening program or stable chronic patients who are followed up at outpatient clinic.
- Patients with other organic acidemia or any other cause of hyperammonemia
- Patient receiving other investigational therapy for PA or MMA
- Past history of hypersensitivity or drug allergy to Carbaglu®
- Patient with PA or MMA and other inherited genetic conditions or congenital anomalies
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Arm && Interventions
Group Intervention Description Methylmalonic Acidemia Active arm Carglumic Acid patients with Methylmalonic Acidemia will receive Carglumic Acid in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12) Propionic Acidemia Active arm Carglumic Acid patients with Propionic Acidemia will receive Carglumic Acid in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and biotin)
- Primary Outcome Measures
Name Time Method Number of emergency visits due to hyperammonemia within 24 months period 24 months
- Secondary Outcome Measures
Name Time Method Time to first visit to the ER due to hyperammonemia from starting the treatment. 24 months Plasma ammonia levels over the study treatment period. 24 months Number of days of hospitalization 24 months Acylcarnitine level for all patients once on screening visit Measuring urine organic acid levels for both diseases. 24 months Measuring Plasma aminoacids' levels for both diseases 24 months
Related Research Topics
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Trial Locations
- Locations (2)
King Fahad Medical City
🇸🇦Riyadh, Saudi Arabia
King Abdullah Specialist Children Hospital, King Abdulaziz Medical City
🇸🇦Riyadh, Saudi Arabia