The Association for Creatine Deficiencies is committed to fostering and supporting a thriving research community for Cerebral Creatine Deficiency Syndromes (CCDS). Creatine Transporter Deficiency has no treatment. GAMT and AGAT deficiencies have treatments that can be improved especially when children are not diagnosed early. As parents, our motivation to see treatments for our children is urgent and unstoppable.

Our research strategy is to fund, build, and share tools and resources that can accelerate the discovery of treatments for children living with creatine deficiencies. Our approach is collaborative and relies on open science to shorten the timelines required for development. As a parent-led research organization, our responsibility is to support the widest range possible of relevant research efforts in the scientific community, including biotech and pharma, in order to maximize our chances of getting treatments.

What we do:

  • Collaborate with researchers academic or industry to support basic, translational, and clinical research for all three CCDS. 
  • Fund research through grants and fellowships.
  • Enable access to development tools (biosamples, mouse models, etc.
  • Run surveys as part of our patient registry data, share anonymized information about our community.
  • Act as a liaison for connecting various domain experts (academic or industry) to speed up progress.
  • Organize scientific meetings (see Virtual Conference 2020).

Current Projects and Collaborations:

CCDS Gene Therapy Consortium

Gene therapy is an exciting research area that holds the promise for treatments in many rare diseases. Both Creatine Transporter Deficiency and GAMT deficiency are monogenic conditions which makes them, in theory, good candidates for gene therapy. However, gene therapy efforts often require large financial investments and long timelines. As a first step, in 2019, ACD ran a fundraising campaign to fund the advancement of gene therapy for CCDS. With $50,000 raised by parents and families to be used towards gene therapy research efforts, the ACD started CCDS Gene Therapy Consortium. The mission of the consortium is to facilitate the timely sharing of information and development tools among the several labs that are pursuing gene therapies for creatine deficiencies. We believe that by building a collaborative environment and supporting through small grants shareable tools we can shorten the timeline and effort required to find gene therapy solutions for creatine deficiencies. For more updates click here.

AGAT-Inhibitors Drug Development Research Project

Principal Investigator Dr. Nicola Longo, University of Utah

The ACD is pleased to announce their support of Dr. Nicola Longo in his research into new treatments and therapies for Guanidinoacetate Methyltransferase (GAMT) Deficiency. One-third of donations raised from Nov 1st through the end of 2020 will be dedicated to this research initiative. Presently, treatment for GAMT patients involves supplementing creatine and l-ornithine orally (between 400 and 800 mg/kg per day), an arginine-restricted diet with or without medical food, and sodium benzoate (100 mg/kg per day) to reduce the concentration of guanidinoacetate. Even with the best available therapy, the concentration of guanidinoacetate remains elevated above normal. The toxicity of guanidinoacetate is the likely cause of the incomplete response of GAMT deficiency to existing therapies and the poor response of seizures to anticonvulsivants. Dr. Longo has submitted a proposal to discover an inhibitor of the synthesis of guanidinoacetate, which would normalize the guanidinoacetate concentration in GAMT patients. These novel drugs, given with creatine supplements, should normalize the brain chemistry of GAMT patients, thus reducing the frequency of seizures and facilitating intellectual development. To learn more about this exciting research, click here or watch Dr. Longo’s presentation at the CCDS 2020 Virtual Conference.

ClinGen Collaboration

The Association for Creatine Deficiencies is working with Geisinger, a National Institutes of Health (NIH) Clinical Genome Resource (ClinGen) grantee to share genetic and health information from the ACD registry and increase our understanding of genomics. ClinGen is an NIH-funded effort dedicated to identifying clinically relevant genes and variants for use in precision medicine and research. Through their existing registry, ACD is participating in the Patient Data Sharing Program to have certified genetic counselors review and share participants’ de-identified genetic and health information. Registry participants are able to direct whether or not they would like their de-identified data shared. Data sharing can help us better understand the relationship between genetics and health, clarify uncertain genetic testing results, and provide more information about a condition to inform treatment and management. Through data sharing, individual registry participants also can choose to receive updates about their genetic testing results.


  • Savatt, J.M., Azzartiti, D.R, Faucett, W.A., Florin, J., Ledbetter, D.H., Miller, V.R., Palen, E., Rehm, H., Rhode,  J., Rogers, L., Talbird, S., Trutoiu, L.,  Vidal, J.A., Waggoner, C., Riggs, E.R., Martin, C.L. Expanding Patient Data Sharing: GenomeConnect’s Pilot to Engage External Registries in Data Sharing. Poster presentation. Presented at the 38th Annual Education Conference for the National Society of Genetic Counselors, November 6, 2019, Salt Lake City, Utah.
  • Savatt, J.M, Azzartiti, D.R, Faucett, W.A., Ledbetter, D.H., Miller, V.R., Palen, E., Rehm, H., Rhode, J., Rogers, L., Talbird, S., Trutoiu, L., Vidal, J.A., Riggs, E.R., Martin, C.L.  ClinGen’s Patient Data Sharing Program: Leveraging Data Sharing Experience from GenomeConnect to Broaden Patient Data Sharing Efforts. Poster Presentation. Curating the Clinical Genome Meeting. May 30, 2019. Washington, DC.