Trial Now Recruiting: Optical Imaging in X-linked Disorders. (NCT06868979)
WHY IT MATTERS
This trial is recruiting patients with two of the most common X-linked intellectual disability disorders and may provide a new diagnostic tool that could improve how these conditions are identified and monitored.
Researchers are looking for 88 people with Fragile X Syndrome or Creatine Transporter Deficiency to test a new imaging technology that can see how the brain works. Both of these are genetic conditions that affect how the brain develops and cause intellectual disability. This study might help doctors better understand and diagnose these conditions in the future.
NCT ID: NCT06868979 Status: RECRUITING Conditions: Fragile X Syndrome (FXS), Creatine Transporter Deficiency Phase: NA Enrollment: 88 Sponsor: Hospices Civils de Lyon Summary: Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability. FXS and CTD affect hemizygous males and with highly variable severity heterozygous females. Both these neurodevelopmental disorders (NDDs) have a dramatic impact on the family quality of life and the health-care system. These disorders share common clinical traits, including intellectual disability, autistic-like features, behavioural and m
YOU CAN ACT ON THIS
If you or a family member has Fragile X Syndrome or Creatine Transporter Deficiency, check the clinicaltrials.gov website (NCT06868979) to see if you meet eligibility requirements and contact the study team at Hospices Civils de Lyon to learn more about participating.