Emily Reinhardt: “Elevating patient and caregiver voices: How CCDS families are taking a patient-centered approach to prepare for clinical trials”
ABSTRACT
Individuals with cerebral creatine deficiency syndromes (CCDS) creatine transporter deficiency (CTD) and guanidinoacetate methyltransferase (GAMT) deficiency lack creatine in their brains, which affects their ability to develop typically. There is currently no FDA-approved treatment for CTD or GAMT. Caregivers have frequently expressed a desire for a better long-term solution, ideally an FDA treatment that leads to improved symptoms and quality of life. In order to increase the likelihood of a successful clinical trial, the Association for Creatine Deficiencies (ACD) set out to identify which outcomes are most important to the CCDS community. ACD partnered with caregivers of CTD and GAMT patients, along with researchers and clinicians, to develop a patient-centered core outcome set (COS) which specifies which outcomes are important to patients and families and should be measured in every clinical trial. While identifying which outcomes to measure is an important first step, it is just as important to consider the tools used to measure these outcomes and their sensitivity to capture subtle but meaningful changes in patients. Therefore, ACD is again partnering with caregivers, researchers, and clinicians to develop a set of patient-centered considerations for researchers as they select tools to measure the outcomes in the COS during clinical trials. These two projects have elevated and engaged patients and caregivers, allowing us to incorporate their priorities and ensure that CTD and GAMT patients were not left behind as we get closer to clinical trials.