Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.

ABSTRACT:

Background

Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency. Patients with either condition commonly exhibit intellectual and developmental disabilities, often accompanied by behavior problems, delayed speech, seizures, and motor impairments. There is currently no efficacious treatment for CTD, while current management for GAMT requires lifelong treatment with a protein restricted diet and intake of high amounts of oral supplements. Efforts to conduct clinical trials on potential treatments for these disorders are made more difficult by the lack of clinical and patient-derived meaningful outcomes. A core outcome set (COS) can facilitate consistent use of out

SUBMITTER: Nasseri Moghaddam Z 

PROVIDER: S-EPMC12333098 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature