CTD – A Rare and Devastating Disease

CTD is a rare disorder, initially described in 2001, which is thought to be the second most common cause of X-linked intellectual disability and developmental delay after Fragile X Syndrome. The inability to transport creatine into brain cells can lead to intellectual disability, developmental delay, severe language deficits, autistic behaviors, and seizures. CTD is likely under diagnosed. Currently, there are no approved treatments for CTD.

Lumos Pharma is now recruiting individuals to participate in a multi-year observational study of males with Creatine Transporter Deficiency (CTD).

The CTD observational study will give researchers a better understanding of the clinical signs and symptoms of Creatine Transporter Deficiency, including effects on behavior and the intellectual and physical development of males over a 2-year period.

Males with CTD will be screened at university clinics. Once enrolled in the study, participants will undergo a series of age-appropriate tests of physical and intellectual abilities. Follow-up testing will occur every 6 months.  In addition, parents or caregivers will receive a phone call every 2 months so researchers can keep track of any changes you may notice in your child’s health and behavior.

Who is eligible to participate?

  • Males diagnosed with CTD by a healthcare professional based on genetic tests showing a mutation in theSLC6A8 gene

Who cannot participate?

  • Males with a history of status epilepticus [seizures lasting longer than 5 minutes or occurring so close together that the person does not recover between seizures] in the 3 months before screening for the study takes place
  • Children or parents/caregivers who for other reasons are unable to carry out procedures the study involves

For more information, please visit the following clinicaltrials.gov listing: