Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting on Cerebral Creatine Deficiency Syndromes (CCDS)

The Association for Creatine Deficiencies is holding an Externally-Led Patient Focused Drug Development (EL-PFDD) meeting on Cerebral Creatine Deficiency Syndromes (CCDS). This virtual meeting is an important opportunity for patients and caregivers to inform FDA representatives, academic and scientific researchers, medical professionals, and pharmaceutical companies about personal experiences regarding the symptoms and daily impact of CCDS, as well as thoughts on current and future approaches to therapies.

Read on for more details about the meeting and then register your virtual attendance through the sign-up form below. Please note that there is also an opportunity to submit comments in advance of the meeting on specific topics. 

Click here to view the draft agenda

  • The PFDD Program was created by the FDA several years ago as a way to systematically gather information from patients and caregivers about their conditions, especially symptoms and daily impact, as well as thoughts on current and future approaches to therapies. This information helps inform FDA’s drug development decision making process.
  • The Association for Creatine Deficiencies is thankful for FDA’s approval of our proposal, recognizing the importance of learning about the three rare genetic disorders that fall under CCDS.
  • Externally-Led PFDD’s are hosted by an organization other than the FDA, in this case the ACD.
  • Give patients and caregivers a platform to share with key stakeholders and the public what it means to live with or be a caregiver for someone who has one of the three CCDS, including symptoms, daily impact, and overall quality of life
  • Provoke discussions around existing treatments for AGAT and GAMT and thoughts on future approaches to treatments for CTD
  • Publish and share a CCDS Voice of the Patient report following the meeting in spring 2023.
  • December 8, 2022 @ 3:30-4:30pm ET
  • This webinar provides an overview of EL-PFDD meetings, including more about the format, purpose, and goals of this meeting. It will also provide additional details about participating in the January 2023 meeting.
  • Register for the CCDS EL-PFDD introductory webinar

Submit a comment below on the topics we will be discussing, in advance of the EL-PFDD meeting. Comments will also be able to be submitted up to 30 days following the meeting. Comments should be submitted individually.

  • What symptoms of CCDS do you or your loved one exhibit?
  • What symptoms have the most significant impact on you or your loved one’s life?
  • How does CCDS impact you or your loved one on best and worst days? Please describe.
  • For those with AGAT and GAMT, what are your thoughts on current treatment modalities?
  • For those with CTD, what are your thoughts in regards to possible future treatments?

Submit a Comment

Fill out the form below to submit your comment for the CCDS EL-PFDD meeting. The comments collected may be shared during the CCDS EL-PFDD and may also be used in the final Voice of the Patient report (with identifying information removed).

Thank you for your interest in participating in the upcoming EL-PFDD on Cerebral Creatine Deficiency Syndromes. Your input can help inform attendees and FDA in regards to lived experience and what is important related to future therapies or treatments. We encourage patients and caregivers to register, even if you have been recently diagnosed. If you have specific concerns about your journey with CCDS, we encourage you to contact your provider. The Association for Creatine Deficiencies does not provide medical advice. 

Thank you to our EL-PFDD Supporters: