Pendred syndrome/ DFNB4
Conditions
Interventions
sirolimus
placebo-control
Sponsors
Keio University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Outpatients who are diagnosed as PDS by genetic tests for SLC26A4 gene, suffered fluctuating symptoms of inner ear disorders and meet following criteria: 1) 7-50 years old 2) Diagnosed by genetic tests. 3) Symptoms of inner ear disorders are not fixed. 4) Subjective symptom of episodes of hearing loss and/or dizziness/vertigo within one year prior to the case registration. 5) At least three times of inner-ear function tests, including standard pure-tone audiometry, were performed with an interval of one day or longer, within six months prior to the case registration. 6) Written informed consent by himself/herself or the subject's legally acceptable representative.
Exclusion criteria
Exclusion criteria: 1) Past usage of mTOR inhibitors or other molecular target drugs relating mTOR pathway. 2) History of allergy to Sirolimus, Sirolimus derivatives or additive substance. 3) Patients with HBV, with the history of HBV or with active type-C hepatitis. 4) Severe blood abnormalities or hepatic dysfunction AST or ALT 100 IU/L or higher Hct below 30% Platelet below 80,000/mm3 Neutrophils below 1,000/mm3 Total WBC below 3,000/mm3 5) Dyslipidemia: Serum triglyceride of 500 mg/dL or higher or LDL cholesterol level of 190 mg/dL or higher in spite of the treatments. 6) Severe renal failure. eGFR < 30 mL/min/1.73 m^2. 7) Immunodeficiency including HIV or primary immunodeficiency. 8) Patients who are not able to take tablet, or who have gastrointestinal disorders possibly leading to insufficient absorption of Sirolimus. 9) Patients who had surgery during 8 weeks before the registry (any surgery that requires invasion of the body or suture with three or more stitches). 10) Pregnant, probably pregnant, or breast-feeding women. Patients who do not agree birth control during clinical trial. 11) Patients who need drugs that influence CYP3A4 activity after trials are started. 12) Patients with pulmonary infiltrations. 13) Hearing loss is fixed rather than fluctuating diagnosed by physicians with audiograms. 14) Participation in other clinical research and/or trials within six months prior to the date of consent. 15) Others not suitable judged by investigators.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Incidences of adverse events/reactions and their grades | — |
Secondary
| Measure | Time frame |
|---|---|
| Clinical effects of NPC-12T upon symptoms (hearing level and vertigo/dizziness) of PDS patients. | — |
Countries
Japan
Contacts
Public ContactYuto FUJIKI
Keio University Hospital Clinical and Translational Research Center
Outcome results
None listed