臨床研究等提出・公開システム

Exploratory specified clinical trials on the efficacy of NPC-15 on neurological symptoms for xeroderma pigmentosum patients (XP-2)

Exploratory specified clinical trials on the efficacy of NPC-15 on neurological symptoms for xeroderma pigmentosum patients (XP-2)

Ono Ryusuke

Kobe University Hospital

7-5-2, Kusunoki-cho, Chuo-ku, Kobe , Japan

onoryu@med.kobe-u.ac.jp

Tsujimoto Mariko

Kobe University Hospital

7-5-2, Kusunoki-cho, Chuo-ku, Kobe , Japan

+81-78-382-6134

mtsujimoto@pearl.kobe-u.ac.jp

Recruiting

Dec. 27, 2024

Interventional

single arm study

open(masking not used)

historical control

single assignment

treatment purpose

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.

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 deemed unsuitable as subjects for this clinical study by the principal investigator or sub-investigator.

Both

xeroderma pigmentosum

Administer melatonin at a dose of 0.067 mg/kg (maximum 4 mg) once daily before bedtime continuously for 18 month

photosensitivity, sensorineural hearing loss, neurological disorder, DNA repair deficiency

D014983

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.

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

+81-78-382-6669

Dec. 05, 2024

Yes

After the publication of the results paper, if a researcher who presents an appropriate research plan contacts the authors of the paper, all or part of the collected data, anonymized, will be provided. The provision period will be from 3 months after the publication of the paper for a duration of 5 years.

none