Methylmalonic acidemia
Conditions
Interventions
Experimental group:PEG-rhGH
Control Group:None
Sponsors
Zhengzhou Children's Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 3 Years
Inclusion criteria
Inclusion criteria: 1. Provide informed consent signed and dated by the subject's legal guardian; 2. The subjects meet the clinical diagnosis of methylmalonic acidemia; 4. Through developmental assessment, it is in line with moderate or above psychomotor retardation. Children's neuropsychological scale score < 60 points; 5. Gender is not limited; 6. No history of neonatal asphyxia, sepsis, meningitis, etc.; 7. Have not received rhGH treatment before. 8. Basic disease control indicators: For example, if Hcy is controlled to the untreated range: Hcy<50umol/L, close to the normal range, and then re-enter the group.
Exclusion criteria
Exclusion criteria: 1. Patients with persistent abnormal liver and kidney function (ALT > 2 times the upper limit of normal value); 2. Severe perinatal complications (such as asphyxia, sepsis, necrotizing enterocolitis, respiratory distress syndrome with long-term sequelae); 3. Congenital skeletal dysplasia or moderate or above scoliosis (or scoliosis >= 15 degree) requiring treatment or claudication; 4. Patients who have a history of convulsions or epilepsy, except those whose symptoms of convulsions or epilepsy ease or recover after the release of definite etiology (high fever, calcium deficiency, brain infection, etc.), or whose symptoms are well controlled after treatment with antiepileptic drugs; 5. Patients with systemic chronic diseases such as heart, liver and kidney; 6. Patients with family history of tumor (there are two or more same tumor patients within three generations of immediate relatives), previous history of tumor or considered as high risk of tumor in combination with other information; 7. Persons with known high allergic constitution or allergic to the test drug in this study; 8. Systemic glucocorticoid therapy (local or inhaled corticosteroids are allowed) for more than 1 month ; 9. Within 3 months, he has received drug treatment that may interfere with GH secretion or GH effect (including but not limited to oxandron, danazol and stanazol); 10.Those who have participated in clinical trials of other drugs within 3 months; 11.The investigator considers that it is not suitable for other situations of this clinical trial.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Total development quotient; | — |
Secondary
| Measure | Time frame |
|---|---|
| Development quotient of sports field;Personal and social development quotient;Listening and language development quotient;Developmental quotient in hand eye coordination;Operational domain developer;Reasoning domain developer; | — |
Countries
China
Contacts
Public ContactWei Haiyan
Zhengzhou Children's Hospital
Outcome results
None listed