HyperammonemiaNCT05040178
An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
An observational study of Hyperammonemia and Methylmalonic Acidemia, run by RECORDATI GROUP at 5 sites in United States.
Trial summary
To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hyperammonemia, Methylmalonic Acidemia, Propionic Acidemia
- What is being tested?
- Carglumic Acid
- How many people
- 20 participants
- Where
- 5 sitesUnited States
- Study dates
- 30 Jun 2022to 30 Jun 2032
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Provision of signed and dated informed consent/assent form
- Prescribed and treated with Carbaglu®
- Have an established diagnosis of PA or MMA defined as follows:
- Diagnosed with PA by semi quantitative urine organic acid analysis, defined as presence of elevated methylcitric acid and normal methylmalonic acid levels and no evidence of biotin related disorders in the organic acid analysis; OR
- Diagnosed with MMA by semi quantitative urine organic acid analysis, defined as elevation of methylmalonic acid and no evidence of vitamin B12 dependent disorder on plasma amino acid analysis (vitamin B12 dependency is defined by documented vitamin B12 responsiveness).
- AND/OR
- Confirmation by molecular genetic testing
Who cannot join
- None
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
United States5 sites, 5 recruiting
- Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Michael Sawin, (312) 227-2816, Msawin@luriechildrens.org
Joshua Baker, MD
- Recruiting
Riley Children's Hospital
Indianapolis, Indiana, 46202
Susan Romie, (317) 278-6650, sromie@iu.edu
Melissa Lah, MD
- Recruiting
Icahn School of Medicine at Mt. Sinai
New York, New York, 10029
Colleen Donnelly, (212) 241-5983, Colleen.donnelly@mssm.edu
Margo Breilyn, MD
- Recruiting
University of South Florida
Tampa, Florida, 33606
Farideh Oberheu, (813) 250-2292, faljalla@usf.edu
Amarilis Sanchez-Valle, MD
- Recruiting
Children's National Hospital
Washington D.C., District of Columbia, 20010
Kara Simpson, (202) 545-2503, ksimpson@childrensnational.org
Nicholas Ah Mew, MD
About this study
Official title: A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations
To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.
Read the detailed description
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.
- Conditions
- Hyperammonemia, Methylmalonic Acidemia, Propionic Acidemia
- Being tested
- Carglumic Acid
- Keywords
- PA & MMA
- Medical subject headings
- Hyperammonemia, Methylmalonic acidemia, Propionic Acidemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Carglumic AcidDrug
Also called Carbaglu®
Current or previous treatment with Carbaglu, the dose of Carbaglu® prescribed will be determined by the investigator for each individual patient.
| Study group | Role | What they receive |
|---|---|---|
| Male and Female Adult and Pediatric Participants | Patients treated with Carbaglu for the treatment for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) Receives: Drug: Carglumic Acid |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Measured: 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.
Secondary outcomes (1)
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).
Measured: 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Sep 2021
- Study start30 Jun 2022
- Primary completion30 Jun 2032 (estimated)
- Study completion30 Jun 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HyperammonemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- RECORDATI GROUP
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Target PharmaSolutions, Inc.
- Responsible party
- Sponsor
- Investigators
- William Ludlum, MD, Study director, Recordati Rare Diseases IncNicholas Ah Mew, MD, Principal investigator, Children's National Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05040178
- Sponsor's protocol ID
- CARBAGLU-RRDUS-PASS-0573
- Status last verified
- Apr 2025
- First submitted
- 16 Jun 2021
- Last updated
- 15 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 15 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations
- ClinicalTrials.gov ID
- NCT05040178
- Acronym / sponsor ID
- CARBAGLU-RRDUS-PASS-0573
- Conditions
- Hyperammonemia, Methylmalonic Acidemia, Propionic Acidemia
- Keywords
- PA & MMA
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- RECORDATI GROUPIndustry (pharma, biotech, devices)
- Collaborators
- Target PharmaSolutions, Inc.
- Study start
- 30 Jun 2022 (actual)
- Primary completion
- 30 Jun 2032 (estimated)
- Study completion
- 30 Jun 2032 (estimated)
- First posted
- 10 Sep 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Male and Female Adult and Pediatric Participants | – | Drug: Carglumic AcidPatients treated with Carbaglu for the treatment for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (7 listed)
- Provision of signed and dated informed consent/assent form
- Prescribed and treated with Carbaglu®
- Have an established diagnosis of PA or MMA defined as follows:
- AND/OR
- Confirmation by molecular genetic testing
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Carglumic AcidAlso: Carbaglu®Current or previous treatment with Carbaglu, the dose of Carbaglu® prescribed will be determined by the investigator for each individual patient. | Drug | Male and Female Adult and Pediatric Participants |
Primary outcome
Effects of Carbaglu® on plasma ammonia levels
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.
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.
Adverse Event frequency and severity
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.
Any Carbaglu® related adverse events will be be collected and reported
1 secondary outcome
Fetal Outcomes and Pregnancy Outcomes
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Apr 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
William Ludlum, MD study director
Recordati Rare Diseases Inc
Nicholas Ah Mew, MD principal investigator
Children's National Research Institute
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hyperammonemia and Methylmalonic Acidemia, run by RECORDATI GROUP at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anne Marie Cesario (908-849-4907, cesario.a@recordati.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Effects of Carbaglu® on plasma ammonia levels (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.). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Apr 2025.