Association for Creatine Deficiencies

Cycle 1
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Three Cerebral Creatine Deficiency Syndromes (CCDS)—Creatine Transporter Deficiency (CTD), Guanidinoacetate Methyltransferase (GAMT) Deficiency, L-Arginine:Glycine Amidinotransferase (AGAT) Deficiency—are inborn errors of metabolism, which interrupt the formation or transportation of creatine. Speech delay is one of the most pronounced symptoms of all three CCDS.

Last updated May 2024

Clinical
Disease Class
Rare Cerebral Creatine Deficiency Syndromes
Rare genetic diseases
Rare inborn errors of metabolism
Rare neurological diseases
Body Systems
Digestive
Metabolic
Muscular / Skeletal
Nervous / Sensory
Organs
Brain
Heart
Liver
Genes
GAMT
GATM
SLC6A8
Type of Inheritance
Autosomal recessive
X-linked recessive
Disease Mechanism(s)
Creatine transporter disorder
Enzyme deficiency
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Incidence
Less than 10
Prevalence
101-1000
Symptoms / Phenotypes
autism
autistic behavior
cardiac abnormalities
failure to thrive
hyperactivity
hypotonia
intellectual delay / global developmental delay
movement disorders / ataxia / tremor
seizures / epilepsy
speech delay
vomiting / nausea
Biomarkers
Diagnostic
· abnormalities of urine and plasma GAA, Creatine, and Creatinine, and lack of MRS creatine peak
Monitoring
· plasma GAA and creatine for GAMT
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· Creatine, L-Ornithine, Arginine, Glycine, Sodium Benzoate, Betaine
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
LCLs
Cell Lines, location
Coriell Institute
Cell Lines, share
Yes
Disease Model
Mouse
Organoids
Rat
Disease Model, location
Jackson Laboratories (JAX)
Lausanne University
Neuroscience Institute of CNR
University of Cincinnati
Disease Model, share
Yes
Clinical Trial Role
Meeting with regulators
Outcome measures, development
Biobank
Coriell Institute
Center of Excellence
University of Utah
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Longitudinal natural history data
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
IAMRARE
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Medication usage
Patient-reported data
Retrospective data
Platform, Natural History Study
IAMRARE
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
We are working on obtaining an ICD-10 code
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
No
Organizational Roles
Executive Director
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
Europe
Oceania
International Partners
Europe