Exploratory specified clinical trials on the efficacy of NPC-15 on neurological symptoms for xeroderma pigmentosum patients

JRCT ID: jRCTs051240228

Registered date:27/12/2024

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: xeroderma pigmentosum
• Date of first enrollment: 27/12/2024
• Target sample size: 30
• Study type: Interventional
• Intervention(s): Administer melatonin at a dose of 0.067 mg/kg (maximum 4 mg) once daily before bedtime continuously for 18 month

Outcome(s)

Primary Outcome

Change in the total score of the neurological score section 1 of the severity scale after 18 months of oral administration.
Change in the total score of the neurological score section 3 of the severity scale after 18 months of oral administration.

Secondary Outcome

a)Efficacy Evaluation Items
Neurological score of the severity scale
Hearing
Tojyo Analytical Infant Developmental Test
Evaluation of walking posture (confirmed by video)
Biomarkers
Urinary MDA after 18 months of oral administration
Urinary 8-OHdG after 18 months of oral administration
Urinary HEL after 18 months of oral administration
Serum neurofilament L after 18 months of oral administration
GFAP after 18 months of oral administration
Urinary 6SM after 18 months of oral administration
b)Exploratory Evaluation Items
Tanaka Auditory Development Test
Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) (total score)
Pediatric Evaluation of Disability Inventory (PEDI)
c)Safety Evaluation Items
Occurrence of diseases, etc., during the observation period

Key inclusion & exclusion criteria

• Age minimum: >= 1age old
• Age maximum: Not applicable
• Gender: Both

Include criteria

1. Patients diagnosed with xeroderma pigmentosum (XP) based on the XP diagnostic flowchart in the Guidelines for the Diagnosis and Treatment of Xeroderma Pigmentosum (Japanese Dermatological Association, 2015).
2. XP patients with neurological symptoms diagnosed as group A, B, D, F, or G by genetic diagnosis, or group A, B, D, F, or G XP patients with mutations that have been shown in literatures to be associated with neurological symptoms, although neurological symptoms are not apparent at this time (for example, XPA: IVS3-1G>C, XPA: c.348T>A [p.Y116X], XPA: c.682C>T [p.R228X], ERCC2(XPD): c.2047C>T [p.R683W], ERCC4(XPF): c.2395C>T [p.Arg799Trp])).
3. Patients who are aged 1 year or older (weighing at least 7.5 kg) at the time of consent acquisition.
4. Patients who have obtained written consent to participate in this clinical study based on their own free will and/or the free will of their legal representative.

Exclude criteria

1. Patients with a history of allergy to melatonin or ramelteon.
2. Patients who have been using the following medication regularly from four weeks before the start of the investigational drug administration:
1) Fluvoxamine maleate (e.g., Luvox, Depromel).
3. Patients who are pregnant or may become pregnant.
4. Patients whose activities of daily living (ADL) are fully assisted, due to the progression of XP symptoms after the developmental stage such as infancy.
5. Patients deemed unsuitable as subjects for this clinical study by the principal investigator or sub-investigator.

Related Information

• Primary Sponsor: Ono Ryusuke
• Source(s) of Monetary Support: FY2024 Japan Agency for Medical Research and Development Practical Research Project for Rare and Intractable Diseases (Project Number: 24ek0109749h0001)