OBJECTIVES : Creatine Transporter Deficiency (CTD) is a rare, X-linked, recessive disorder resulting in creatine deficiency, primarily in the brain. Patients with CTD can experience significant developmental delays in motor skills, speech, and cognition, as well as seizures and behavioral issues. The objective of this research was to gather data on the burden of CTD from the caregiver perspective.

METHODS : Caregivers were recruited through advocacy networks, social media, and clinical sites from the US and other English-speaking countries. Interested caregivers were consented, screened, and were sent a survey link if determined to be eligible. The survey included questions about diagnosis, family history, growth, CTD management, hospitalizations, seizures, speech and communication, behavior, sleep, sensory issues, motor function, gastrointestinal symptoms, self-care, education, therapies, and caregiver assistance. Survey data were descriptively analyzed and open-ended responses were coded with ATLAS.ti. The study was approved by the Western Institutional Review Board.

RESULTS : Thirty-seven caregivers provided data for 40 unique children with CTD. Respondents were primarily located in the United States (57.5%); the children were mostly male (92.5%) and on average 9.7 (5.3) years old (standard deviation). Results highlighted the seriousness of CTD. Most patients had been hospitalized at least once (85.0%) and experienced seizures (70.0%). Results also indicated that CTD impacts the physical functioning and cognitive abilities of patients across a wide range of measures. Caregivers commonly reported that their child does not speak in full sentences (87.5%), has trouble following directions (82.5%), is much more active or restless than others his/her age (72.9%), and requires caregiver assistance eating/drinking (95.0%) and bathing/grooming/toileting (92.5%). Caregivers reported that the most important outcome of an effective therapy would be improvements in speech (46.2%), learning (15.4%) and seizures (12.8%).

CONCLUSIONS : The survey results provide insight on the burden of CTD and highlight the need for effective CTD management and treatment.