An Exploratory Study of Spironolactone Tablets for the Treatment of Children With Gene Mutations Related to NCOR

What this Trial Is About

Researchers are investigating the use of spironolactone tablets to treat children aged 3 to 10 years with gene mutations related to NCOR, which have been linked to neurodevelopmental disorders such as autism spectrum disorder (ASD). NCOR1/2 complex and MECP2 interaction play a key role in gene regulation important for brain function, and disruptions in this system have been associated with symptoms like social deficits and learning impairments. This study aims to explore spironolactone as a potential therapy based on promising preclinical and clinical findings targeting these genetic pathways. Participants will receive spironolactone starting at 2 mg/kg body weight once daily with food during lunch, with doses adjusted based on tolerance and lab results. If potassium and creatinine levels are within safe limits, treatment begins at 25 mg daily and may increase to 100 mg after symptom remission. If no improvement occurs within the first month, the dose may be increased to 3 mg/kg. Treatment cycles last 45 days, and assessments occur at baseline and after each cycle. During the study, children will undergo various evaluations including the Wechsler Intelligence Scale for Children, Autism Diagnostic Observation Scale-2, and other behavioral and developmental assessments at baseline and after treatment cycles. Blood pressure and laboratory monitoring will be conducted to ensure safety. The study continues until December 2027, with ongoing data collection to measure cognitive function, autism symptoms, and adaptive behaviors as primary and secondary outcomes.

Spironolactone Improved Children With Gene Mutations Related to NCOR