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Abstract Details

Clinical Characteristics of Creatine Transporter Deficiency (CTD): Final Results of the Vigilan Observational Study
Child Neurology and Developmental Neurology
P8 - Poster Session 8 (5:30 PM-6:30 PM)
8-002

Little is known about the natural history of CTD, an X-linked disorder of disrupted creatine transport into cells.

To enhance understanding of symptoms and developmental course of people living with CTD, contribute to development of therapeutic intervention programs, and identify potential study endpoints relevant to CTD.

This study (NCT02931682) used parent questionnaires and clinical assessments to characterize clinical features of males with confirmed CTD (SLC6A8 pathogenic variant) for up to 4 years.

Fifty patients (mean baseline age, 8.8 years; range, 1.5-24.4 years) were enrolled. Mean age at first symptom was 9.0 months, mean time from initial evaluation to diagnosis was 3.2 years, and mean CTD diagnosis age was 4.9 years. In addition to global developmental delay, medical history included seizures (68%), hypotonia (decreased muscle tone; 50%), aggressive behavior (46%), self-injurious behavior (40%), autism spectrum disorder features (32%), attention deficit disorder (32%), anxiety disorder (20%), and cardiac arrhythmia (8%). Baseline language levels were single words (42%), sentences (33%), babbling (15%), no speech (4%), and unknown (4%). Behaviorally, based on the ABC-2 questionnaire, patients with CTD often exhibited irritability and hyperactivity. Baseline gastrointestinal symptoms included constipation (44%), choking/gagging (32%), vomiting (16%), and gastroesophageal reflux disease (12%). Across measures, little change or improvement was seen over time.

In patients with CTD, symptoms occurred early in life, with a prolonged delay before CTD diagnosis. Further, patients with CTD experienced a range of neurologic, cardiac, and gastrointestinal symptoms and had meaningful and persistent delays and impairments in language and cognitive ability, with very limited skill development over the four-year study. Significant and persistent impairments suggest therapeutic intervention would be needed at a young age to improve outcomes.
Authors/Disclosures
Melanie Brandabur, MD (Ultragenyx)
PRESENTER
Dr. Brandabur has received personal compensation for serving as an employee of Ultragenyx. Dr. Brandabur has stock in Ultragenyx.
No disclosure on file
Irina A. Anselm, MD (Boston Children'S Hospital) Dr. Anselm has nothing to disclose.
No disclosure on file
Elizabeth M. Berry-Kravis, MD, PhD (Rush University Medical Center) The institution of Dr. Berry-Kravis has received research support from NIH. The institution of Dr. Berry-Kravis has received research support from Ionis. The institution of Dr. Berry-Kravis has received research support from Zynerba. The institution of Dr. Berry-Kravis has received research support from Roche. The institution of Dr. Berry-Kravis has received research support from CDC. The institution of Dr. Berry-Kravis has received research support from FRAXA Research Foundation. The institution of Dr. Berry-Kravis has received research support from GeneTx. The institution of Dr. Berry-Kravis has received research support from Angelman Syndrome Foundation. The institution of Dr. Berry-Kravis has received research support from Acadia. The institution of Dr. Berry-Kravis has received research support from Ultragenyx. The institution of Dr. Berry-Kravis has received research support from Anavex. The institution of Dr. Berry-Kravis has received research support from Rett Syndrome Research Trust. The institution of Dr. Berry-Kravis has received research support from Ultragenyx. The institution of Dr. Berry-Kravis has received research support from Mallinckrodt. The institution of Dr. Berry-Kravis has received research support from Together Strong Foundation. The institution of Dr. Berry-Kravis has received research support from Orphazyme. The institution of Dr. Berry-Kravis has received research support from Taysha. The institution of Dr. Berry-Kravis has received research support from Erydel. The institution of Dr. Berry-Kravis has received research support from Tetra. The institution of Dr. Berry-Kravis has received research support from Neuren. The institution of Dr. Berry-Kravis has received research support from FRAXA Research Foundation.
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