Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia (CAMP)
Propionic Acidemia, Methylmalonic Acidemia
About this trial
This is an interventional treatment trial for Propionic Acidemia
Eligibility Criteria
Inclusion Criteria:
- Male or female Children of 15 years old or less
- 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)
- Not participating in any other clinical trial in the previous 30 days
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.
- 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.
Exclusion Criteria:
- 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
Sites / Locations
- King Abdullah Specialist Children Hospital, King Abdulaziz Medical City
- King Fahad Medical City
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
No Intervention
Experimental
No Intervention
Experimental
Methylmalonic Acidemia Control Arm
Methylmalonic Acidemia Active arm
Propionic Acidemia Control Arm
Propionic Acidemia Active arm
patients with Methylmalonic Acidemia will receive standard therapy only (protein restricted diet, L-carnitine, metronidazole and vitamin B12)
patients with Methylmalonic Acidemia will receive Carglumic Acid in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12)
patients with Propionic Acidemia will receive standard therapy only (protein restricted diet, L-carnitine, metronidazole and biotin)
patients with Propionic Acidemia will receive Carglumic Acid in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and biotin)