ATR-X syndrome infant, intellectual disability, epigenetics, guanine quadruplex
Conditions
Interventions
Containing 5-aminolevulinic acid (5-ALA) hydrochloride and sodium ferrous citrate (SFC)
Tablets (25 mg 5-ALA hydrochloride/39.2 mg SFC per tablet, NPJ005) for 24 weeks
5-aminolevulinic acid,
Sponsors
Wada Takahito
Eligibility
Sex/Gender
Male
Inclusion criteria
Inclusion criteria: 1) meet the Definite diagnostic criteria for the ATR-X syndrome 2) Age > 2 years at the time of enrolment 3) Weigh 10 kg or more at the time of enrolment 4) Have a parent or reliable carer 5) Have given written consent to participate in this clinical trial. (If the patient is under 18 years of age, consent should be obtained from the individual and his/her legal guardian). If the patient's intellectual disability makes it difficult to obtain consent from the individual, consent should be obtained from the legal guardian.
Exclusion criteria
Exclusion criteria: 1) Those with complications not directly related to the ATR-X syndrome (e.g. perinatal hypoxic encephalopathy, which may affect the assessment) 2) Those with serious complications (e.g. haematological, renal, hepatic, cardiac, cancer) 3) Those with a history of major illness or surgery in the past, which is judged to affect the assessment of central nervous system function 4) Those with no visual function that allows recognition of test indices 5) Those with concomitant or previous history of photosensitivity or porphyria 6) With a history of hypersensitivity to 5-ALA, porphyrins or iron preparations 7) Those with haemochromatosis 8) have taken supplements containing 5-ALA as a main ingredient within 3 months prior to enrolment (same date 3 months earlier) 9) Participating in another clinical study or trial involving an intervention within 3 months (same date 3 months earlier) prior to obtaining consent 10) Any other case that the investigator or sub-investigator deems inappropriate for the safe conduct of this clinical trial.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1 Safety: (frequency and extent of adverse events and side effects) 2 Efficacy: assessment of development using the new version of the K-type developmental test 3 Efficacy: assessment of social competence with the S-M Social Competence Test | — |
Secondary
| Measure | Time frame |
|---|---|
| 1 Assessment of symptoms by M-CHAT 2 Assessment of social developmental gaze patterns using gaze measurement device, Gazefinder 3 Assessment of gastrointestinal symptoms 4 Development (body weight) 5 Blood levels of 5-ALA and PP9 | — |
Contacts
Public ContactYoshida Takeshi
Kyoto University Hospital
Outcome results
None listed