Phase
Condition
Autism
Rett Syndrome
Treatment
Clinical assessment
EEG and Auditory and Visual Evoked Potentials (AEP and VEP)
EEG and Auditory and Visual Evoked Potentials (AEP and VEP)
Clinical Study ID
Ages 1-18 Female Accepts Healthy Volunteers
Study Summary
Eligibility Criteria
Inclusion
Inclusion Criteria:
Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with alikely pathogenic or known pathogenic variant in MECP2.
Likely Rett Group: Females from 1 year to < 5 years of age with MECP2 variant ifregression has not yet occurred or child is within 6 months of last skill loss.
Typically developing (TD) Group: Females age matched to RTT population (1-18) withno developmental or cognitive concerns as assessed using the Child/Adult BehavioralChecklist, Survey of Well-Being of Young Children (<5yo), or the Wide RangeAchievement Test-4 (>5 yo).
Exclusion
Exclusion Criteria:
Rett and Likely Rett Groups:
Presence of a duplication in MECP2 or any other identified pathogenic mutation inanother gene.
Active medical conditions not typically found in RTT.
Typically Developing Group:
Score below norms on the performance tests
Have a known neurological disorder (excluding migraine)
Being on neuroactive medications.
Study Design
Study Description
Connect with a study center
Children's Hospital of Los Angeles
Los Angeles, California 90027
United StatesSite Not Available
Children's Hospital of Los Angeles
Los Angeles 5368361, California 5332921 90027
United StatesActive - Recruiting
Children's Hospital Colorado
Aurora, Colorado 80045
United StatesSite Not Available
Children's Hospital Colorado
Aurora 5412347, Colorado 5417618 80045
United StatesActive - Recruiting
Boston Children's Hospital
Brookline, Massachusetts 02445
United StatesSite Not Available
Boston Children's Hospital
Brookline 4931482, Massachusetts 6254926 02445
United StatesActive - Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania 19104
United StatesSite Not Available
Children's Hospital of Philadelphia
Philadelphia 4560349, Pennsylvania 6254927 19104
United StatesActive - Recruiting
Vanderbilt University Medical Center
Nashville, Tennessee 37232
United StatesSite Not Available
Vanderbilt University Medical Center
Nashville 4644585, Tennessee 4662168 37232
United StatesActive - Recruiting
Texas Children's Hospital
Houston, Texas 77030
United StatesSite Not Available
Texas Children's Hospital
Houston 4699066, Texas 4736286 77030
United StatesActive - Recruiting

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