Genodermatosis Caused by Nonsense Mutations
Conditions
Interventions
right-side medication group:right-side 0.1% gentamicin ointment Bid
left-side medication group:left-side 0.1% gentamicin ointment Bid
Sponsors
Beijing Children’s Hospital, Capital Medical University
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1) Genodermatosis such as EB and NPPK were diagnosed by clinical and genetic tests in our hospital,carried with nonsense mutations; 2) Stable vital signs; 3) The subject or guardian signed the informed consent form.
Exclusion criteria
Exclusion criteria: 1) Patients with a history of allergy to aminoglycosides; 2) Patients with other chronic concomitant diseases or infectious diseases; 3) Impairment of VIII nerves, deafness gene mutation through gene screening, or hearing impairment; 4) Abnormal ECG, chest X-ray, ultrasound, liver and kidney functions; 5) Other conditions, or poor compliance.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| clinical manifestation;Birmingham Epidermolysis Bullosa Severity (BEBS) score; | — |
Secondary
| Measure | Time frame |
|---|---|
| dermatology life quality index (DLQI); | — |
Countries
China
Contacts
Public ContactLin Ma
Beijing Children’s Hospital, Capital Medical University
Outcome results
None listed