This study focuses on therapeutic targets for cognitive, motor, and social impairments in Williams syndrome by reversing brain myelin defects caused by GTF2I. The primary objective of the study was to test and evaluate the initial efficacy and safety of Clomastine fumarate in the treatment of Williams syndrome.
The primary objective of this study was to evaluate the initial efficacy and safety of Clomastine fumarate in the treatment of Williams syndrome. The secondary objective is to study Clomastine fumarate in relation to mechanisms of action, safety, and/or pathological mechanisms. This study was an open-label study with a randomized, cross-over, placebo-controlled design. Each participant will be randomly assigned to two groups through baseline assessment (see study results), with Group A receiving the FDA-approved drug Clemastine at a weight-dependent dose (see dosing table below) for the first cycle and placebo for the second cycle. Group B will be treated with placebo for the first cycle and the FDA-approved drug Clemastine for the second cycle.
Study Type
INTERVENTIONAL
Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
TRIPLE
Enrollment
50
The dose was administered 2mg once daily in a double-blind random crossover method
The dose was administered 2mg once daily in a double-blind random crossover method
Qilu Hospital of Shandong University
Tainan, Shangdong, China
RECRUITINGAnisotropy Score (FA)
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
Time frame: baseline follow-up;second month;fourth month
Radial diffusion rate (RD)
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
Time frame: baseline follow-up;second month;fourth month
Apparent dispersion coefficient(ADC)
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
Time frame: baseline follow-up;second month;fourth month
Magnetization transfer ratio(MTR)
Measuring by Magnetic resonance diffusion tensor imaging (DTI)
Time frame: baseline follow-up;second month;fourth month
SRS Score 2(Social Response Scale2) score
Assessing social skills
Time frame: baseline follow-up;second month;fourth month
Peabody(Motion Estimation Timewarp)score
Assessing motion skills
Time frame: baseline follow-up;second month;fourth month
Gesell Development Scale
Assessing neurodevelopment
Time frame: baseline follow-up;second month;fourth month
Differential pressure across valves
Measuring by Cardiac color ultrasound
Time frame: baseline follow-up;second month;fourth month
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Thyroid hormone value
Time frame: baseline follow-up;second month;fourth month
Conners Parent Symptoms Questionnaire Score
Assessing adaptability
Time frame: baseline follow-up;second month;fourth month
Vailand-3 scale
Assessing neurodevelopment
Time frame: baseline follow-up;second month;fourth month
CSHQ Children's Sleep Habits Questionnaire Score
Assessing sleeping
Time frame: baseline follow-up;second month;fourth month