Creatine Transporter Deficiency (CTD / SLC6A8) is an X-linked syndrome caused by a mutation on the SLC6A8 gene. 

 

Creatine Transporter Deficiency is one of the 3 cerebral creatine deficiency syndromes (CCDS). It is a very rare genetic mutation on the X chromosome, that impairs the ability of the transporter to bring creatine into the brain cells. It affects mainly males but also females (+10%).

We estimate the number of current diagnosed patients around 500 in the world and about 100 in France, but we believe it is well under-diagnosed. 

The severity of CTD can vary from patient to patient but it generally causes neuro-developmental disorders. 
More common symptoms are (non-exhaustive list) :

Intellectual disability 

Speech delays

Learning disabilities

Autism   

Motor skills difficulties

Movement disorders

Hypotonia

Behavior disorders

Epilepsy, seizures

There is no treatment but there is promising research in the pipeline in France with Ceres Brain Therapeutics and in the US with Ultragenyx, and a lot of researchers and physicians trying to better understand the disease in order to find a cure.

The Commission for Creatine Transporter Deficiency (SLC6A8) represents almost 3/4 of the French CTD families, and has been crucial in initiating, funding, promoting research programs and upcoming therapeutic trials. Xtraordinaire CTD commission is also in contact with European CTD Families. 

Xtraordinaire has been partnering with the US Association for Creatine Deficiencies since 2016. https://creatineinfo.org/

You can contact us by email: creatine@xtraordinaire.org

 

UPCOMING SYMPOSIUM

SAVE THE DATE : 

 

Xtraordinaire CTD commission is organizing its third international symposium on Creatine Transporter Deficiency In Paris on Friday, September 29 & Saturday, September 30, 2023. 

It will be the opportunity to gather professionals from around the world and families/patients.

Attendees : researchers, physicians, health professionals, industry, families and CTD families & patients 

Focus on Europe : a big effort to invite and include patients and families from all European countries

Themes : understanding clinical trials for rare disease, gene therapy, females with CTD, epilepsy, aging, siblings and families

Speakers : from around the world, with an expertise on CTD, on rare diseases with neurodevelopmental disorders, and focusing on the themes of the symposium

If you wish to present or to attend, please contact us ccds2023@xtraordinaire.org