Methylmalonic Acidemia (MMA)Phase 3NCT07163364
A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
A Phase 3 study testing Hydroxocobalamin Chloride Injection in people with Methylmalonic Acidemia (MMA), run by CSPC ZhongQi Pharmaceutical Technology Co., Ltd..
Trial summary
This study is a Single-Center, Single-Arm, open-label, Phase III clinical study to evaluate the efficacy, safety characteristics of Hydroxocobalamin Chloride Injection (20 mg/mL) for Maintenance Therapy in participants with Methylmalonic Acidemia (MMA) with Elevated Homocysteine (Cobalamin C Deficiency). Read more about this study
- Who is it for?
- Ages 6 months to 18 years
- Conditions the study is for
- Methylmalonic Acidemia (MMA)
- What is being tested?
- Hydroxocobalamin Chloride Injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- No sites listed yet
- Study dates
- 31 Aug 2025to 28 Apr 2027
- Phase
- Phase 3
- 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 6 months to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Age 6 months (inclusive) to < 18 years at the time of first investigational product administration; both sexes eligible.
- Confirmed diagnosis of cobalamin C (cbl C)-type methylmalonic acidemia (MMA) fulfilling ALL of the following:
- Documented vitamin B12 responsiveness: ≥ 50 % reduction from pre-treatment baseline in plasma C3/C2 ratio and urinary methylmalonic acid following vitamin B12 therapy.
- Presence of pathogenic MMACHC gene variants in a participant with MMA associated with hyperhomocysteinemia.
- Investigator-assessed clinical stability, defined as:
- No emergency room visits or hospitalizations within 6 months prior to screening for metabolic crises (e.g., electrolyte disturbances, metabolic acidosis, dysglycaemia, multi-organ failure); AND
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- Plasma methylmalonic acid within the normal reference range at screening.
- Continuous treatment with injectable hydroxocobalamin for ≥ 3 months immediately preceding first dose of study drug.
- Written informed consent obtained from participant and/or legally authorised representative; willingness and ability to comply with all study visits and procedures.
- Female participants of childbearing potential (post-menarche) must have a negative serum β-hCG test at screening. All participants of reproductive potential (post-menarche females or males with documented spermarche) must use a highly effective contraceptive method throughout the study and for an appropriate post-study period as defined by local regulations.
Who cannot join
- Use of any vitamin B12 preparation other than injectable hydroxocobalamin within 3 months prior to screening.
- Participation in another clinical trial within 28 days or 5 half-lives of the investigational agent (whichever is longer) before screening initiation, except for screening-only participants who did not receive study drug.
- Prior liver or kidney transplantation, or any prior cell-based therapy.
- Any of the following laboratory abnormalities:
- Hemoglobin < 90 g/L; or
- Platelet count < 100 × 10⁹/L; or
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- Estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73 m²; or
- Requirement for dialysis due to renal disease.
- Evidence of clinically significant hepatic dysfunction defined as:
- Alanine aminotransferase (ALT) > 2.0 × upper limit of normal (ULN);
- Aspartate aminotransferase (AST) > 2.0 × ULN or total bilirubin > 1.5 × ULN;
- Prothrombin time > 1.5 × ULN.
- Hyperammonemia characterised by blood ammonia ≥ 3 × ULN, or any acute metabolic decompensation (e.g., lethargy, restlessness, somnolence, feeding refusal, or vomiting).
- Evidence on prior imaging of a space-occupying lesion suspicious for malignancy, or any known history of malignancy.
- New York Heart Association (NYHA) Class III or IV heart failure, or moderate-to-severe pulmonary hypertension.
- Clinically significant urolithiasis identified on imaging performed during screening.
- Presence of any of the following underlying conditions: immunodeficiency, severe malnutrition, congenital heart disease, congenital malformations of the respiratory system, or any clinically significant cardiac, hepatic, pulmonary, or renal disorder; diabetes mellitus; severe hematological disease; uncontrolled epilepsy or other significant central nervous system disorders.
- History of severe hypersensitivity or known hypersensitivity/intolerance to hydroxocobalamin, structurally related compounds, or any excipients in the investigational product.
- Any other condition or circumstance that, in the judgment of the investigator, would compromise participant safety, compliance, or data integrity.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: A Single-arm Phase III Clinical Study to Evaluate the Efficacy and Safety of Hydroxocobalamin Chloride Injection in Participants With Methylmalonic Acidemia (MMA) With Elevated Homocysteine (Cobalamin C Deficiency)
This study is a Single-Center, Single-Arm, open-label, Phase III clinical study to evaluate the efficacy, safety characteristics of Hydroxocobalamin Chloride Injection (20 mg/mL) for Maintenance Therapy in participants with Methylmalonic Acidemia (MMA) with Elevated Homocysteine (Cobalamin C Deficiency).
- Conditions
- Methylmalonic Acidemia (MMA)
- Being tested
- Hydroxocobalamin Chloride Injection
- Medical subject headings
- Methylmalonic acidemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Hydroxocobalamin Chloride InjectionDrug
1 - 20 mg per dose, 1 - 5 times per week
| Study group | Role | What they receive |
|---|---|---|
| Hydroxocobalamin Chloride Injection | Experimental | Hydroxocobalamin Chloride Injection Receives: Drug: Hydroxocobalamin Chloride Injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of participants achieving normalization of plasma or urinary methylmalonic acid levels post-dose.
Measured: Week4、Week6、Week10、Week16、Week24
Secondary outcomes (11)
Change from baseline in plasma total homocysteine level.
Measured: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Change from baseline in plasma propionylcarnitine (C3), plasma C3/acetylcarnitine (C2) ratio, and urinary methylcitrate.
Measured: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Change from baseline in plasma methylmalonic acid concentration.
Measured: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Change from baseline in urinary methylmalonic acid excretion.
Measured: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Proportion of participants achieving plasma methylmalonic acid levels within the normal reference range.
Measured: Week32、Week40、Week48
Proportion of participants achieving urinary methylmalonic acid levels within the normal reference range.
Measured: Week32、Week40、Week48
Change from baseline in growth parameters (height).
Measured: Week24、Week48
Change from baseline in growth parameters (weight)
Measured: Week24、Week48
Change from baseline in growth parameters (head circumference).
Measured: Week24、Week48
Change from baseline in Gesell Developmental Scales.
Higher scores means a better outcome.
Measured: Week24、Week48
Change from baseline in Wechsler Intelligence Scale
Higher scores means a better outcome.
Measured: Week24、Week48
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Sep 2025
- Study start31 Aug 2025 (estimated)
- Primary completion8 Oct 2026 (estimated)
- Study completion28 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Methylmalonic Acidemia (MMA)Studies of the same condition, open and under way.
- More trials run by CSPC ZhongQi Pharmaceutical Technology Co., Ltd.The 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 3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- This study is a Single-Center, Single-Arm, open-label, Phase III clinical study
- Masking
- None (open label)
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- CSPC ZhongQi Pharmaceutical Technology Co., Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07163364
- Sponsor's protocol ID
- SYH9097-001
- Status last verified
- Aug 2025
- First submitted
- 19 Aug 2025
- Last updated
- 9 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Single-arm Phase III Clinical Study to Evaluate the Efficacy and Safety of Hydroxocobalamin Chloride Injection in Participants With Methylmalonic Acidemia (MMA) With Elevated Homocysteine (Cobalamin C Deficiency)
- ClinicalTrials.gov ID
- NCT07163364
- Acronym / sponsor ID
- SYH9097-001
- Conditions
- Methylmalonic Acidemia (MMA)
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- CSPC ZhongQi Pharmaceutical Technology Co., Ltd.Industry (pharma, biotech, devices)
- Study start
- 31 Aug 2025 (estimated)
- Primary completion
- 8 Oct 2026 (estimated)
- Study completion
- 28 Apr 2027 (estimated)
- First posted
- 9 Sep 2025 (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.
This study is a Single-Center, Single-Arm, open-label, Phase III clinical study to evaluate the efficacy, safety characteristics of Hydroxocobalamin Chloride Injection (20 mg/mL) for Maintenance Therapy in participants with Methylmalonic Acidemia (MMA) with Elevated Homocysteine (Cobalamin C Deficiency).
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This study is a Single-Center, Single-Arm, open-label, Phase III clinical study
| Arm | Type | Receives |
|---|---|---|
| Hydroxocobalamin Chloride Injection | Experimental | Drug: Hydroxocobalamin Chloride InjectionHydroxocobalamin Chloride Injection |
Who may qualify
- Ages
- 6 months to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (10 listed)
- Age 6 months (inclusive) to < 18 years at the time of first investigational product administration; both sexes eligible.
- Confirmed diagnosis of cobalamin C (cbl C)-type methylmalonic acidemia (MMA) fulfilling ALL of the following:
- Investigator-assessed clinical stability, defined as:
- Continuous treatment with injectable hydroxocobalamin for ≥ 3 months immediately preceding first dose of study drug.
- Written informed consent obtained from participant and/or legally authorised representative; willingness and ability to comply with all study visits and procedures.
Key exclusion criteria (19 listed)
- Use of any vitamin B12 preparation other than injectable hydroxocobalamin within 3 months prior to screening.
- Participation in another clinical trial within 28 days or 5 half-lives of the investigational agent (whichever is longer) before screening initiation, except for screening-only participants who did not receive study drug.
- Prior liver or kidney transplantation, or any prior cell-based therapy.
- Any of the following laboratory abnormalities:
- Evidence of clinically significant hepatic dysfunction defined as:
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 |
|---|---|---|
| Hydroxocobalamin Chloride Injection1 - 20 mg per dose, 1 - 5 times per week | Drug | Hydroxocobalamin Chloride Injection |
Primary outcome
Proportion of participants achieving normalization of plasma or urinary methylmalonic acid levels post-dose.
Time frame: Week4、Week6、Week10、Week16、Week24
11 secondary outcomes
Change from baseline in plasma total homocysteine level.
Time frame: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Change from baseline in plasma propionylcarnitine (C3), plasma C3/acetylcarnitine (C2) ratio, and urinary methylcitrate.
Time frame: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Change from baseline in plasma methylmalonic acid concentration.
Time frame: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Change from baseline in urinary methylmalonic acid excretion.
Time frame: Day3、Week2、Week4、Week6、Week10、Week16、Week24、Week32、Week40、Week48
Proportion of participants achieving plasma methylmalonic acid levels within the normal reference range.
Time frame: Week32、Week40、Week48
Proportion of participants achieving urinary methylmalonic acid levels within the normal reference range.
Time frame: Week32、Week40、Week48
Change from baseline in growth parameters (height).
Time frame: Week24、Week48
Change from baseline in growth parameters (weight)
Time frame: Week24、Week48
Change from baseline in growth parameters (head circumference).
Time frame: Week24、Week48
Change from baseline in Gesell Developmental Scales.
Time frame: Week24、Week48
Change from baseline in Wechsler Intelligence Scale
Time frame: Week24、Week48
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 9 Sep 2025.
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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.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing Hydroxocobalamin Chloride Injection in people with Methylmalonic Acidemia (MMA), run by CSPC ZhongQi Pharmaceutical Technology Co., Ltd..
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 10 inclusion and 19 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: opening soon, as of the sponsor's last update on 9 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
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.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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 Clinical Trials Information Group officer (86-0311-69085587, ctr-contact@cspc.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of participants achieving normalization of plasma or urinary methylmalonic acid levels post-dose. (time frame: Week4、Week6、Week10、Week16、Week24). 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 9 Sep 2025.