Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)NCT04284917
Long-term Efficacy of Carglumic Acid in Organic Acidemia.
A study testing Carglumic Acid (Carbaglu®) in people with Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA), run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Read more about this study
- Who is it for?
- Ages 0 to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
- What is being tested?
- Carglumic Acid (Carbaglu®)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteTaiwan
- Study dates
- 28 Nov 2019to 11 Mar 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 0 to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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.
- Male or female Children of 18 years old or less.
- Had experienced Hyperammonemia(NH3 ≧100 uM) before.
- Not participating in any other clinical trial in the previous 30 days
Who cannot join
- Patients with other organic acidemia or any other cause of hyperammonemia
- Patient receiving other investigational therapy for PA or MMA
- Patient with PA or MMA and other inherited genetic conditions or congenital anomalies
- Past history of hypersensitivity or drug allergy to Carbaglu®
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
Read the detailed description
Study procedures:
- Study period: 36 months; treatment period: 12 months.
- Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12).
- Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12.
- Patients should report any adverse event that occur during treatment period.
- Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period.
- Being tested
- Carglumic Acid (Carbaglu®)
- Keywords
- Carglumic Acid (Carbaglu®)
- Medical subject headings
- Propionic Acidemia, Methylmalonic acidemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Carglumic Acid (Carbaglu®)Drug
- Study period: 36 months; treatment period: 12 months.
- Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12).
- Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12.
- Patients should report any adverse event that occur during treatment period.
- Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period.
| Study group | Role | What they receive |
|---|---|---|
| Receive Carglumic Acid | Experimental | Experimental Case_ Carglumic Acid Receives: Drug: Carglumic Acid (Carbaglu®) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of emergency visits due to hyperammonemia within 12 months period
Adverse Events
Measured: 12 months
Secondary outcomes (7)
Time to first visit to the ER due to hyperammonemia from starting the treatment
Adverse Events
Measured: 12 months
Assessment of Plasma ammonia level
Plasma ammonia level over the study treatment period.
Measured: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Number of days of hospitalization
Number of days of hospitalization during study treatment period.
Measured: 12 months
Assessment of Acylcarnitine level
Acylcarnitine level for all patients
Measured: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Assessment of urine organic acid level
Measuring urine organic acid level for both diseases.
Measured: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Assessment of Plasma aminoacids' level
Measuring Plasma aminoacids' level for both diseases.
Measured: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Assessment of Methylmalonic acid level
Measuring Methylmalonic acid level for both diseases.
Measured: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2020
- Study start28 Nov 2019
- Primary completion31 Dec 2024
- Study completion11 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)Studies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ni-Chung Lee, M.D., Ph.D, Principal investigator, National Taiwan University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04284917
- Sponsor's protocol ID
- 201810033MIPB
- Status last verified
- Mar 2025
- First submitted
- 24 Feb 2020
- Last updated
- 20 Mar 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
- ClinicalTrials.gov ID
- NCT04284917
- Acronym / sponsor ID
- 201810033MIPB
- Keywords
- Carglumic Acid (Carbaglu®)
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 3 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- 28 Nov 2019 (actual)
- Primary completion
- 31 Dec 2024 (actual)
- Study completion
- 11 Mar 2025 (actual)
- First posted
- 26 Feb 2020 (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.
Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
Detailed description
Study procedures:
- Study period: 36 months; treatment period: 12 months.
- Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12).
- Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12.
- Patients should report any adverse event that occur during treatment period.
- Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Receive Carglumic Acid | Experimental | Drug: Carglumic Acid (Carbaglu®)Experimental Case_ Carglumic Acid |
Who may qualify
- Ages
- 0 to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- PA or MMA confirmed using the following criteria:
- Male or female Children of 18 years old or less.
- Had experienced Hyperammonemia(NH3 ≧100 uM) before.
- Not participating in any other clinical trial in the previous 30 days
Key exclusion criteria (4 listed)
- Patients with other organic acidemia or any other cause of hyperammonemia
- Patient receiving other investigational therapy for PA or MMA
- Patient with PA or MMA and other inherited genetic conditions or congenital anomalies
- Past history of hypersensitivity or drug allergy to Carbaglu®
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 Acid (Carbaglu®)A. Study period: 36 months; treatment period: 12 months. B. Patients will receive Carglumic Acid (Carbaglu®) 50 mg/kg/day in addition to standard therapy (protein restricted diet, L-carnitine, metronidazole and vitamin B12). C. Patients need to regularly come back for follow up examination on Day 0, month 3, month 6, and month 12. D. Patients should report any adverse event that occur during treatment period. E. Patients' number of emergency visits due to hyperammonemia, ammonia level, acylcarnitine, urinary organic acid analysis, plasma amino acid analysis and methylmalonic acid will be recorded during treatment period. | Drug | Receive Carglumic Acid |
Primary outcome
Number of emergency visits due to hyperammonemia within 12 months period
Time frame: 12 months
Adverse Events
7 secondary outcomes
Time to first visit to the ER due to hyperammonemia from starting the treatment
Time frame: 12 months
Assessment of Plasma ammonia level
Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Number of days of hospitalization
Time frame: 12 months
Assessment of Acylcarnitine level
Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Assessment of urine organic acid level
Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Assessment of Plasma aminoacids' level
Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Assessment of Methylmalonic acid level
Time frame: Baseline,3,6,9 and 12,months after receiving Carbaglu.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2025.
Related trials for Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
RecruitingObservational study
An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
Hyperammonemia, Methylmalonic Acidemia
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. This study is not recruiting at the moment.
Ni-Chung Lee, M.D., Ph.D principal investigator
National Taiwan University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Carglumic Acid (Carbaglu®) in people with Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA), run by National Taiwan University Hospital at 1 site in Taiwan.
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 6 inclusion and 4 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: finished, as of the sponsor's last update on 20 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of emergency visits due to hyperammonemia within 12 months period (time frame: 12 months). 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 20 Mar 2025.