Clinical Trials

Observational Study of Male CTD Patients:

New clinical study opens to learn more about rare x-linked pediatric neurodevelopmental disease: Creatine Transporter Deficiency (CTD)

Lumos Pharma is sponsoring a multi-year observational clinical study of males with Creatine Transporter Deficiency (CTD) that is currently recruiting individuals to participate. ClinicalTrials.gov Listing:

https://clinicaltrials.gov/show/NCT02931682

This CTD observational study is an international, multiple site, study that intends to enroll 50 males with CTD over the next 12-16 months. The study’s initial clinical site is actively enrolling patients, and many additional clinical sites will start to enroll in the coming months.

Here are some questions and answers to help participants understand more about the study:

What is an observational study?

An observational study involves following and collecting information on people with a particular disease or health condition over a period of time. At specified times, researchers record information about study participants based on what they see and hear and what they learn from tests. In this way, researchers can learn more about the basic biology of a disease. An observational study also helps researchers understand how disease symptoms and behaviors change over time.

Participants do not receive treatment during the study.

Observational studies are a very important step toward finding effective disease treatments. Study findings provide a solid foundation for the design of clinically meaningful trials where a treatment is proposed.

Why participate in CTD observational study?

Creatine Transporter Deficiency (CTD) was first identified in 2001. The condition is rare so it hasn’t received as much attention or investigation as other more common health problems.

To date there have been few published studies where researchers have looked at how the disease develops over time without any treatment. This is one of the challenges of finding an effective medication for CTD—a challenge shared by researchers working to find cures for many rare diseases. Without information about how a disease progresses, researchers cannot know how to test a new drug to find out if it actually leads to improvements in people’s functioning.

This observational study will give researchers a better understanding of the clinical signs and symptoms of CTD, including effects on behavior and the intellectual and physical development of males over a 2-year period. By participating, you and your child will do the following:

  • Receive important and detailed health information about your child’s CTD from comprehensive work-ups and tests that are conducted in university- associated clinical settings with medical experts
  • Speed up efforts to find an effective treatment for CTD
  • Become even a stronger patient advocate for your child and join the CTD scientific and patient family

What exactly will this study involve?

Males signed up to participate will undergo a clinical evaluation at a university clinic to determine if they are eligible to participate in the study. If eligible, and once enrolled in the study, participants will undergo a series of tests of physical and intellectual abilities. Follow-up testing will occur at the test site every 3 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 the SLC6A8 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 the study begins
  • Children or parents/caregivers who for other reasons are unable to carry out procedures the study involves

I’d like to sign my son up but we probably live too far away from the test sites.

Sign up anyway. Many study locations are yet to be decided, including some in the United States, Canada, and countries around the world. Travel stipends will be available for study participants who need them.

Be part of the solution!

Sign up now!

If your child may qualify to participate, please contact Dr. Alex Bruchey at abruchey@lumos-pharma.com.

*The ACD does not endorse or recommend participation in any specific clinical trials.

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