An observational study in Hyperammonemia, Methylmalonic Acidemia and Propionic Acidemia, sponsored by Recordati Rare Diseases. Recruiting at 5 sites in United States. Per ClinicalTrials.gov, last updated 2025-04-15.
Sponsored by Recordati Rare Diseases (part of RECORDATI GROUP) · Observational
To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.
This study is being conducted to obtain short-term and long-term clinical safety information from adult and pediatric patients treated for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). This is an observational/non-interventional study. Patients will be treated per the prescribing information and routine medical practice.
Only available data will be collected as part of the study including developmental outcomes, details of treatment with Carbaglu® and other treatments for hyperammonemia including dietary and protein management, plasma ammonia levels, pregnancy and maternal complications, adverse effects on the developing fetus and neonate, adverse effects on the infant through first year of life.
25 studies on the registry are indexed under Hyperammonemia; 3 are open to participants now.
Browse Hyperammonemia studies →Recordati Rare Diseases is the lead sponsor of 3 studies on the registry; 2 are open to participants now.
First submitted after Recordati Rare Diseases became part of RECORDATI GROUP.
Counted across the registry records on this site, refreshed daily.
Patients with PA or MMA of any age and gender, including pregnant women, are eligible for enrollment in the study as long as they meet the eligibility criteria.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Have an established diagnosis of PA or MMA defined as follows:
AND/OR
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients treated with Carbaglu for the treatment for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA)
Drug: Carglumic Acid
Current or previous treatment with Carbaglu, the dose of Carbaglu® prescribed will be determined by the investigator for each individual patient.
Also known as: Carbaglu®
Effects of Carbaglu® on plasma ammonia levels
Multiple plasma ammonia levels will be collected only during treatment with Carbaglu® according to prescribing information and routine medical practice in terms of visit frequency.
Time frame: Patients treated with Carbaglu® will be managed chronically (out-patient) or acutely (hospital in-patient). In both cases, data will be collected for approximately 1 year following discontinuation of Carbaglu treatment.
Adverse Event frequency and severity
Any Carbaglu® related adverse events will be be collected and reported
Time frame: Patients treated with Carbaglu® will be managed chronically (out-patient) or acutely (hospital in-patient). In both cases, data will be collected for approximately 1 year following discontinuation of Carbaglu treatment.
Fetal Outcomes and Pregnancy Outcomes
Pregnancy risks including maternal complications, adverse effects on the developing fetus and neonate, and adverse effects on the infant (through the first year of life).
Time frame: Collection of pregnancy information for patients who becomes pregnant while participating in the trial or at time of enrollment. Pregnancy reports and reports involving neonates and infants up to 1 year of age must be reported to RRD Pharmacovigilance.
Plan to share: Undecided
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