Status:

NOT_YET_RECRUITING

A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)

Lead Sponsor:

CSPC ZhongQi Pharmaceutical Technology Co., Ltd.

Conditions:

Methylmalonic Acidemia (MMA)

Eligibility:

All Genders

6-18 years

Phase:

PHASE3

Brief 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 Thera...

Eligibility Criteria

Inclusion

  • 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
  • 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.

Exclusion

  • 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
  • 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.

Key Trial Info

Start Date :

August 31 2025

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

April 28 2027

Estimated Enrollment :

20 Patients enrolled

Trial Details

Trial ID

NCT07163364

Start Date

August 31 2025

End Date

April 28 2027

Last Update

September 9 2025

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