NIPH Clinical Trials Search

Pilot Study of TUDCABIL for Leber Hereditary Optic Neuropathy

Basic Information

Recruitment status	Recruiting
Health condition(s) or Problem(s) studied	Leber Hereditary Optic Neuropathy
Date of first enrollment	22/09/2025
Target sample size	5
Countries of recruitment
Study type	Interventional
Intervention(s)	Five patients diagnosed with Leber Hereditary Optic Neuropathy who meet the eligibility criteria will be administered TUDCABIL, which contains tauroursodeoxycholic acid dihydrate as the main ingredient, at a dose of 2000 mg per day for 12 weeks. TUDCABIL is not approved in Japan but has been approved by the Italian Medicines Agency (AIFA) and will be used off-label.

Outcome(s)

Primary Outcome

The primary efficacy endpoint is the change in LogMAR visual acuity in the initially affected eye from before TUDCABIL administration to 12 weeks after the start of administration. The primary safety endpoint is the occurrence and type of disease during the observation period.

Secondary Outcome

Secondary efficacy endpoint: 1. The change in LogMAR visual acuity 12 weeks after starting oral administration of TUDCABIL in the eye with later onset. 2. LogMAR visual acuity before TUDCABIL administration, and at 4, 8, and 12 weeks after starting oral administration. 3. Critcal flicker frequency before TUDCABIL administration, and at 4, 8, and 12 weeks after starting oral administration. 4. GCIPL thickness measured by optical coherence tomography (OCT) before TUDCABIL administration and 12 weeks after starting oral administration. 5. The number of points showing an improvement of 5 dB or more in the real measured sensitivity values of the Humphrey static perimetry (HVF, stimulus size V) before TUDCABIL administration and 12 weeks after starting oral administration. 6. The average sensitivity value of the Humphrey static perimetry (stimulus size V) in the non-affected eye at 12 weeks after TUDCABIL administration in patients who were intervened at the time of unilateral onset. 7. Serum bile acid metabolites before TUDCABIL administration and at 4 weeks after starting oral administration. Secondary safety endpoint: Presence or absence of protocol drug discontinuation and the reason.

Key inclusion & exclusion criteria

Age minimum	>= 16age old
Age maximum	Not applicable
Gender	Male
Include criteria	1. Cases aged 16 years or older (for minors, cases in which written consent of a surrogate was also obtained) 2. Cases diagnosed with Leber Hereditary Optic Neuropathy 3. Cases with the mitochondrial gene missense mutation at nucleotide position 11778 4. Male cases 5. Cases within one year of onset 6. Cases with a corrected visual acuity of 0.1 or less in at least one eye 7. Case in which written informed consent hae been obtained from the individual or their surrogate based on sufficient understanding of and voluntary agreement to participate in this clinical study.
Exclude criteria	1.Cases with concomitant eye diseases other than incipient cataract or pseudophakia 2.Cases with systemic diseases that may cause visual impairment or visual field defects, such as optic neuritis or intracranial space-occupying lesions 3.Cases currently receiving idebenone or with a history of idebenone administration within the past six months 4.Cases with a history of systemic adrenal corticosteroid administration within the past 30 days 5.Cases currently receiving ethambutol, chloramphenicol, linezolid, erythromycin, streptomycin, antiretroviral drugs, amiodarone, infliximab, clioquinol, quinine, pheniprazine, sulamin sodium, or isoniazid 6.Cases receiving cyclosporine, nitrendipine, dapsone, ciprofloxacin, clofibrate, estrogen, or hormonal oral contraceptives 7. Lactose-intolerant cases 8.Cases with severe pancreatic disease (history or current condition of pancreatic cancer, or serum amylase levels above 264 U/L) 9.Cases undergoing treatment for active peptic ulcers confirmed by endoscopic examination. 10.Cases with moderate or greater liver dysfunction (AST equal to or more than 75 U/L, ALT equal to or more than 105 U/L for males or 57.5U/L for females, gamma-GTP equal to or more than 160 U/L for males or equal to or more than 80 U/L for females, total bilirubin equal to or more than 3.75 mg/dL) 11.Cases with moderate or greater renal dysfunction (eGFR less than 45 mL/min/1.73m2) 12.Cases with complete biliary obstruction or bile duct stones 13.Cases with lower gastrointestinal tract diseases (such as Crohn's disease, ulcerative colitis, short bowel syndrome, celiac disease, or a history of bowel resection) 14. Cases with chronic diarrhea multiple times a day 15.Cases with allergies to TUDCABIL or cases with an allergic predisposition 16.Cases participating in other clinical studies 17.Cases deemed inappropriate for inclusion by the investigators in charge of this clinical study