Genodermatosis Caused by Nonsense Mutations
Conditions
Interventions
Case series:Topical gentamicin treatment
Sponsors
Zhirong Yao
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) The corresponding clinical manifestations of Genodermatosis,as well as the genetic diagnosis was confirmed at the same time . 2) Any age male and female; 3) vital signs are stable; 4) The subject or guardian has signed the informed consent form.
Exclusion criteria
Exclusion criteria: 1) Patients who have a history of allergies to any of the ingredients to be used; 2) penicillin, aminoglycoside allergic patients; 3) Patients with a history of bronchial asthma; 4) Patients with signs of acute infection; 5) HIV, HBV, HCV and other chronic infections in patients; 6) There is a eighth cranial nerve damage, myasthenia gravis or Parkinson's disease history; 7) Lactating women, pregnant women, or those who have potential pregnancies during treatment and who refuse contraception; 8) ECG, chest radiograph, ultrasound, liver and kidney dysfunction with clinical significance; 9) gene screening found deafness genes or the presence of hearing impairment; 10) At the discretion of the investigator, the subjects were either untrustworthy or poorly compliant.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| histopathology;electron microscope;Expression of protein; | — |
Secondary
| Measure | Time frame |
|---|---|
| clinical manifestation; | — |
Countries
China
Contacts
Public ContactZhirong Yao
Xinhua Hospital Affiliated to Shanghai Jiaotong University school of Medicine
Outcome results
None listed