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Lumos Pharma launches Disease Awareness Website

Austin, Texas – March 15, 2017

ScreenCreatine Project: Disease awareness website launched to expand understanding and resources associated with Cerebral Creatine Deficiency Syndromes (CCDS) including Creatine Transporter Deficiency (CTD)

Today, Lumos Pharma launches the disease awareness website, part of the ScreenCreatine Project. was developed to provide health literate information about the three creatine deficiencies to the general public, to share information to help find healthcare specialists and diagnostic laboratories working in Cerebral Creatine Deficiency Syndromes, and to provide links to patient organizations focusing to these disorders. also contains updated information on an international Observational Study on Creatine Transporter Deficiency (Vigilan Study) that is currently underway.

Key highlights to the website are:

  • Health literate infographics that explain complicated biochemical pathways in plain language
  • Global databases that list specialists knowledgeable in pediatric neurodevelopmental disorders, including CCDS
  • Molecular and biochemical labs that perform specific tests that help with the diagnosis of the CCDS, including CTD
  • Translation feature via Google Translate in more than 90 languages



“Using simple and step-wise friendly diagrams to help explain metabolic pathways to our families, schools and other interested parties is a big plus to our community. Having the infographics on is a wonderful asset for all of us to use.” commented Kim Tuminello, President of the Association for Creatine Deficiencies (ACD).

Here are some of main messages of the website to help raise disease awareness and improve diagnosis rates of CCDS:

  • All three of the CCDS share many of the same clinical signs and symptoms: intellectual disability, severe speech and language deficits, seizures, movement disorders, and behavioral problems.
  • The majority of people who eventually receive CCDS diagnosis are usually first underdiagnosed/or misdiagnosed with Autism Spectrum Disorder, Cerebral Palsy, or Intellectual Disability due to an unknown etiology.
  • A specific creatine urine test and various clinical genetic testing panel tests (intellectual disability, autism, epilepsy) that are already available but not routinely ordered, are diagnostic tests that are can be used to arrive at such diagnoses.

“Many instances these tests are not ordered when a child presents with some of the above symptoms while a healthcare provider is assessing which tests to evaluate global developmental delay or intellectual disability”, remarked Carol Dutch, Senior Director of Patient Engagement at Lumos Pharma. “The need to make the connection with screening for creatine and these disorders is very important. “