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 Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
20
1 - 20 mg per dose, 1 - 5 times per week
Proportion of participants achieving normalization of plasma or urinary methylmalonic acid levels post-dose.
Time frame: Week4、Week6、Week10、Week16、Week24
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).
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Time frame: Week24、Week48
Change from baseline in Gesell Developmental Scales.
Higher scores means a better outcome.
Time frame: Week24、Week48
Change from baseline in Wechsler Intelligence Scale
Higher scores means a better outcome.
Time frame: Week24、Week48