Global Innovation in Patient Advocacy: Navigating Clinical Trials for Rare Disease

On March 9-10, 2023, Dynamic Global Events hosted the virtual Global Innovation in Patient Advocacy conference. This event was geared towards various stakeholders in the rare disease space and was intended to help inform pharma industry, patient advocates, and nonprofit patient organizations on how they can work together more effectively. Patient Worthy had the privilege of sitting in on some of the sessions.

One of the sessions that we listened to was titled Beyond Parenting – a Parent/Patient Advocate Perspective to Navigate Clinical Trials for Rare Diseases. This session was a keynote address by Carol-Anne Partridge, CEO/Founder, CDLK5 UK. Carol-Anne is a mother to three children and her youngest, Amber, age 17, lives with CDKL5, a rare disorder.

About CDKL5 Deficiency Disorder

CDKL5 deficiency disorder is a genetic disorder which is characterized by intellectual disability, seizures, and developmental delays. As the name suggests, the disorder is linked to mutations of the CDKL5 gene which usually occur spontaneously and is not inherited from a person’s parents. Symptoms become noticeable in the first few months of life. Females are affected more frequently than males, but males tend to have more severe symptoms. These symptoms can include seizures (1-5 per day), constipation, distinctive facial features, reflux, teeth grinding, and problems with feeding and sleeping. Treatment options for CDKL5 deficiency disorder are limited and are primarily focused on minimizing symptoms. Some patients may require a feeding tube. There is a serious need for new and more effective therapies to treat this disorder. In order to learn more about CDKL5 deficiency disorder, click here.

Navigating Clinical Trials

The rare disease clinical trial space can be a challenging one for patients and families to navigate. For many rare conditions, trials are very limited in number and scale. For CDKL5, there are three phase 2 clinical trials and one phase 3 trial. There are also two additional phase 3 trials that are in development, but they haven’t reached the recruitment stage yet. All of these trials are focused on therapies to treat the seizures associated with the disorder.

Rare disease advocacy organizations like CDKL5 UK have a significant incentive to work with pharmaceutical companies in order to help propel research and drug development. Carol-Anne mentioned several challenging aspects of these partnerships, such as:

  • Representing the needs of the CDKL5 community in her country while also trying to engage with patients in other countries. Challenges include:
    • Varied expectations in trials, particularly in families with newly diagnosed children vs children that have had the disease for years.
    • Cultural differences
    • Not all patient groups are eager to engage with the pharma industry.

She also cited examples of good practices, such as:

  • Engaging with patient families from a range of backgrounds
  • Managing patient expectations
  • Engaging with advocacy activities, such as awareness days/months and other events
  • Real World Experience surveys
  • Creating parent focus groups
  • Early engagement with advocacy groups



Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email