Sirolimus

JRCT ID: jRCTs031240673

Registered date:12/02/2025

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Pendred Syndrome/DFNB4
• Date of first enrollment: 12/02/2025
• Target sample size: 15
• Study type: Interventional
• Intervention(s): Rapalimus granules 0.2% once daily for 52 weeks.

Outcome(s)

• Primary Outcome: Adverse events and side effects (type, frequency and severity)

Secondary Outcome

(1) In-office pure tone audiometry at the time of consultation
(2) Mean change in hearing thresholds over the treatment period from in-hospital pure tone audiometry at the time of examination.
(3) Word tone audiometry (in silence and under noise) at the time of examination
(4) Dizziness and hearing interview score at the time of examination
(5) Symptom evaluation by questionnaire at the end of the study

Key inclusion & exclusion criteria

• Age minimum: >= 3age old
• Age maximum: Not applicable
• Gender: Both

Include criteria

(1) Patients aged 3 years or older at the time consent is obtained.
(2) Patients with Pendred syndrome or DFNB4 diagnosed according to the following diagnostic criteria, with variable inner ear impairment, or with hearing loss and pathological variants in at least one allele in the SLC26A4 gene.
(3) Patients eligible to take the drug.
(4)Patients for whom free and informed consent can be obtained in writing from the patient or a substitute.

Exclude criteria

(1) Patients who, at the time of screening, the Principal Investigator considers that the audiometric hearing thresholds at the site being visited during the study period are likely to scale out at least twice at two or more of the frequencies 500, 1000 or 2000 Hz.
(2) Patients with a history of systemic molecular-targeted drugs related to the mTOR pathway, such as sirolimus, other mTOR inhibitors or tyrosine kinase inhibitors within the past year
(3) Patients with a history of hypersensitivity to sirolimus or its additives.
(4) Patients with fever above 38 degrees or active infection.
(5) HBs antigen-positive patients, HBs antibody-positive patients, HBc antibody-positive patients or patients with active hepatitis C. However, HBs antibody-positive patients may participate in the study if they are considered to have been vaccinated against hepatitis B.
(6) Patients with serious haematological or liver function abnormalities.
(7) Patients with poorly controlled dyslipidaemia.
Patients with serum triglycerides 500 mg/dL or more or LDL cholesterol 190 mg/dL or more despite treatment for dyslipidaemia
(8) Patients with severe renal dysfunction
Patients with an estimated glomerular filtration rate of less than 30 mL/min/1.73 m2
(9) Patients with immunodeficiency such as HIV or primary immunodeficiency
(10) Patients with gastrointestinal disorders that may impair absorption of sirolimus
(11) Patients who have undergone surgery within 8 weeks prior to enrolment.
(11) Patients who have undergone surgery within 8 weeks prior to registration.
(12) Pregnant patients or male patients with a partner of childbearing potential who cannot agree to use contraception from the time of consent until 12 weeks after completion of Clozapine, pregnant or lactating patients, or patients who may be pregnant.
(13) Patients with interstitial shadows in the lungs.
(14) Patients who have participated in other clinical studies or trials within 6 months prior to obtaining consent
(15) Other patients deemed inappropriate by the principal investigator.

Related Information

• Primary Sponsor: Fujioka Masato
• Source(s) of Monetary Support: Nobel pharma