Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA)
试验速览
- 阶段
- 3 期
- 状态
- 已完成
- 入组人数
- 33
- 试验地点
- 2
- 主要终点
- Number of emergency visits due to hyperammonemia within 24 months period
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- — 至 15 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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
研究组 & 干预措施
Methylmalonic Acidemia Active arm
patients with Methylmalonic Acidemia will receive Carglumic Acid in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12)
干预措施: Carglumic Acid (Drug)
Propionic Acidemia Active arm
patients with Propionic Acidemia will receive Carglumic Acid in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and biotin)
干预措施: Carglumic Acid (Drug)
结局指标
主要结局
Number of emergency visits due to hyperammonemia within 24 months period
时间窗: 24 months
次要结局
- 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)
研究者
Dr. Majid Alfadhel
Head Genetics Division, Department of Pediatrics. Assistant Professor, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
King Abdullah International Medical Research Center