Cockayne's syndrome
Conditions
Interventions
test group:Vitamin C and Quercetin
Sponsors
The First Medical Center of PLA General Hospital
Eligibility
Sex/Gender
All
Age
6 Years to 13 Years
Inclusion criteria
Inclusion criteria: 1. CS patients are 6-13 years old (including both ends), both men and women; 2. Genetic diagnosis: All patients must undergo confirmatory mutation analysis, showing CS-related ERCC6 or ERCC8 gene mutations; 3. The patient must show clinical symptoms of premature aging: face is old, small head, hunchback, skin sensitive to light, abnormal vision hearing; 4. The legal guardian of the subject must be willing and able to bring the patient to Beijing for appropriate research and examination before oral medication, and 3 months, 6 months, 9 months, 12 months after oral administration; 5. The legal guardian of the subject can communicate well with the researcher and be able to comply with the relevant research regulations; 6. The legal guardian of the subject agrees to sign a written informed consent form; 7. Estimated survival time > 12 months.
Exclusion criteria
Exclusion criteria: 1. In addition to the drugs used in this program, other drugs for the treatment of CS may not be used; 2. When patients start taking vitamin C and quercetin, they should not take drugs that significantly affect the metabolism of vitamin C and quercetin; 3. The patient must have no infection that cannot be controlled; 4. Subjects who are known or suspected to be allergic to any excipients in the formulation should not be treated; 5. The subject is unable to perform any assessment required for endpoint analysis; 6. Severe comorbid conditions or any other condition that the investigator believes may jeopardize the safety or compliance of the subject or impede the successful completion of the study; 7. Have had a history of alcohol abuse, drug abuse or drug abuse in the past 24 months; 8. Have a history of malignancy or are suffering from malignant tumors; 9. Have a history of HIV, syphilis, etc.; hepatitis C antibody (HCV-Ab) is positive, and hepatitis C virus RNA quantification> detection unit upper limit; hepatitis B virus surface antigen (HBsAg) positive, and hepatitis B virus DNA quantification> detection unit upper limit of normal ; 10. Subjects who have a history of organ transplantation, are prepared or are expected to be ready to transplant any organ in the future; 11. Patients with severe infections within 4 weeks prior to the first dose, or active infections within 2 weeks prior to the first dose requiring oral or intravenous antibiotics; 12.12 months of unstable angina or myocardial infarction or congestive heart failure or major vascular disease (such as aortic aneurysm, aortic dissection, internal carotid artery stenosis) requiring hospitalization, or judged by the investigator is not suitable for this Other heart damage of the project (such as cardiac function NYHA classification = II, left ventricular ejection fraction LVEF < 50%, poorly controlled arrhythmia, etc.); 13. Those who have participated in any drug clinical trial within the first 3 months of enrollment; 14. Those who have undergone major surgery within the first 6 months of enrollment; 15. Patients have insufficient communication, understanding and cooperation, or poor compliance, and cannot guarantee that they will be carried out according to the requirements of the program; 16. According to the investigator's assessment, patients who are considered unsuitable for inclusion for various other reasons.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Inflammatory factor;Genomic repeat sequence transcript;Genomic repeat sequence copy number;Innate immune pathway;Leukocyte telomere length;Free DNA sequence;Peripheral blood transcriptome sequencing;Peripheral blood metabolome sequencing; | — |
Countries
China
Contacts
Public ContactLiping Zou
The First Medical Center of PLA General Hospital
Outcome results
None listed