xeroderma pigmentosum photosensitivity, sensorineural hearing loss, neurological disorder, DNA repair deficiency
Conditions
Interventions
Administer melatonin at a dose of 0.067 mg/kg (maximum 4 mg) once daily before bedtime continuously for 18 month
Sponsors
Ono Ryusuke
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion 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.
Exclusion criteria
Exclusion 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 deemed unsuitable as subjects for this clinical study by the principal investigator or sub-investigator.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| 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 | — |
Contacts
Public ContactMariko Tsujimoto
Kobe University Hospital
Outcome results
None listed