LUMOS PHARMA IS COMMITTED TO DEVELOPING MEDICINES THAT WILL HAVE A HIGH IMPACT ON LIVES OF PATIENTS WITH RARE DISEASES.

A clinical trial involves research using human volunteers (trial participants, including healthy volunteers or patients), and is intended to answer specific questions about potential new treatments for certain diseases. These studies allow us to evaluate whether potential new treatments are safe and effective.

An observational study involves observing patients and the outcomes of the observations are recorded by the investigators. These studies are especially useful in rare disease drug development because the natural history of the disease is not well characterized, outcome measures are unknown, there are no prior trials from which to draw information and they offer an opportunity to gather patient and caregiver input and concerns.

Visit clinicaltrials.gov to learn more about eligibility to participate in a study, risks and benefits of study participation, the informed consent process, questions to ask when considering whether to participate in a study.

Lumos Pharma’s clinical programs

Pediatric Growth Hormone Deficiency Trials

FUTURE: PHASE 2/STUDY (LUM-201)

Creatine Transporter Deficiency Trials

RECRUITING: OBSERVATIONAL STUDY (VIGILAN)


Creatine Transporter Deficiency (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 underdiagnosed. 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 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 4-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 they may notice in their 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:

https://clinicaltrials.gov/ct2/show/NCT0293168