The Association for Creatine Deficiencies (sometimes branded as CreatineInfo) is a nonprofit organization focused on advancing awareness, research, and support for Cerebral Creatine Deficiency Syndromes (CCDS)—rare metabolic disorders including CTD (Creatine Transporter Deficiency), GAMT deficiency, and AGAT deficiency.
Mission & Goals
- Provide education and resources to patients, families, clinicians, and the broader public about CCDS.
- Advocate for early diagnosis, including support of newborn screening efforts, especially for GAMT and research into feasibility for other forms.
- Promote and fund medical research aimed at developing treatments and cures for creatine deficiency syndromes.
- Foster a research community by funding projects, building tools, and collaborating with clinicians and scientists.
History & Structure
- ACD was founded in 2012 by parents of children diagnosed with CCDS, who came together to ensure these rare disorders get the attention, research, and support needed.
- While based in the U.S., the organization has an international scope, supporting families and researchers globally.
Key Initiatives & Impact
- ACD is running a “Race for a Cure” fundraising campaign, with aims toward accelerating development of treatments and bringing them to clinical application by 2028.
- It supports efforts to have GAMT deficiency included in the U.S. recommended uniform screening panel (RUSP). (In fact, GAMT has been added to RUSP in recent years.)
- Operates a patient registry (CreatineInfo Registry) to collect data and support rare-disease research.
