RAO Network

Association for Creatine Deficiencies

A young child with a rare disease taking his medication
Eight-year-old Louis, who has a GAMT deficiency — one of three cerebral creatine deficiency syndromes — takes medications four times per day. These treatments will allow him to live independently and avoid seizures and intellectual disabilities. Photo courtesy of the Association for Creatine Deficiencies.

Parents will move mountains to find cures for their children

A rare disease diagnosis is heartbreaking, but getting a diagnosis is also an empowering milestone. Knowing the enemy is the first step in defeating it, and knowing the science behind a condition is the first step in getting to treatment. 

The Association for Creatine Deficiencies is a small yet growing parent-led advocacy organization that provides patient, family, and public education to advocate for early diagnosis of cerebral creatine deficiency syndromes (CCDS) and to promote and find medical research for treatments and cures. ACD leaders know they can’t afford to be bystanders in the research process waiting on developments from the medical field. As such, the organization is committed to being an active player in research and fostering a symbiotic collaboration where researchers and parents work together. With three rare diseases under one umbrella, the ACD is leveraging the power of a stronger, united community to drive research. 

Guanidinoacetate methyltransferase deficiency (GAMT) and L-Arginine:glycine amidinotransferase (AGAT) deficiencies are treatable, but many states still don’t screen for them at birth. Creatine transporter deficiency (CTD) is currently untreatable. Common clinical symptoms include severely impacted speech, language and motor skills; intellectual disability; behavioral problems; hypotonia (weak muscle tone); and, in many cases, seizures. CCDS are severely under-diagnosed due to lack of awareness and availability of clinical diagnostic tests.

ACD’s goal is to identify effective treatments for all three CCDS, ultimately ensuring that children with a creatine deficiency are diagnosed at birth and receive prompt treatment. To reach this goal, ACD aims to get clinical trials underway soon and centralize patient data in an open science patient registry. With small patient populations, this knowledge and access are critical for considering meaningful treatment outcomes. 

Knowing the enemy is the first step in defeating it, and knowing the science behind a condition is the first step in getting to treatment.

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