IQVIA recently sat down with two mothers for an informal learning session and discussion about their children, both diagnosed with the rare neurodegenerative disease, neuronal ceroid lipofuscinosis type 2, also known as CLN2 disease, a form of Batten disease, which are categorized as lysosomal storage disorders. Lysosomal storage disorders encompass a large group of diverse genetic diagnoses that can have differing presentations and severity, even within families. For many with Batten disease, onset of motor decline and seizures trigger a deeper look by their care team as progressive damage of the brain and, for some, increasing dependency on their caregivers ensues. The diagnosis is often only made after years of symptoms that went overlooked, sometimes due to slow decline in function, or were lumped under a more common disease process, such as epilepsy. However, knowing your loved one has this disease is the first step towards what frequently becomes a challenging and frustrating odyssey of advocacy for their child and family.¹ Caregivers of children diagnosed with Batten disease undertake a profoundly complex and unpredictable journey, frequently seeking mutual understanding and support through parent-to-parent communication.

We learned a lot in our time with these mothers, and we take these lessons back to the work we do at IQVIA to better understand how to amplify their advocacy efforts, and incorporate the patient, caregiver and family voice into clinical development programs, supporting our commitment to delivering clinical trials as quickly and empathetically as possible.

Amplifying the Caregiver Advocate’s Voice

Families within the Batten Disease community are fierce advocates and utilize every tool they have to learn, raise funds, and advocate for more therapies to address the complex, diverse, and varying needs of this patient population. However, this advocacy often comes after they’ve managed the care of their loved one who may be dependent on assistance with activities of daily living like mobility, eating, and communicating. For most, advocacy takes up all the space between being a caregiver to their child. These parents need a village of experts helping to amplify their voice and share the burden of advocacy. IQVIA stands with these families and is proud to facilitate this important work through blogs like this and interviews that capture their unique experiences, but more importantly by layering their voice and needs into drug development programs.

Learning from Patient, Caregiver Voice: Patient Focused Drug Development

Regulatory bodies, such as the Food and Drug Administration, support the incorporation of the patient voice and lived experience with specific guidance published to facilitate patient focused drug development (PFDD).² When clinical trials include a pediatric population, or a dependent adult population, PFDD may also incorporate the caregiver voice. IQVIA supports PFDD with experts in regulatory science that help navigate collection of the living experience of these patients and caregivers, analyzing information to identify what is important in their everyday lives, development of fit-for-purpose clinical outcome assessments, and incorporating these assessments into clinical development tools to help guide endpoints used in support of regulatory decision making. This approach is one that the lysosomal storage disorder community is eager to see incorporated into drug development programs, with outcome assessments that look beyond liquid and physiological biomarkers to assess the impact therapies have on how these patients and their caregivers feel, function and survive.

Applying the Patient, Caregiver Voice

Rare disease and lysosomal storage disorder advocates see historical drug development efforts taking far too long. These caregiver advocates feel the race against time to halt progression of the often-devastating disease effects, while holding hope for future novel therapies to prevent and/or reverse the course of disease and restore more independence and quality of life to their loved ones. IQVIA is committed to partnering with drug developers and advocates to bring novel solutions to streamline drug development efforts for these families. This includes supporting PFDD activities with regulatory bodies, novel designs or modeling approaches that streamline drug development timelines and data collection, and empathetic strategies to minimize the burden of clinical trial participation for the patient and caregiver such as decentralized approaches, concierge services and other supportive tools to ease family burden and needs. Applying insights shared from the voices of parent caregivers in the context of Batten disease is essential, as they offer critical insights, emotional depth, and advocacy that shape both clinical understanding and the broader support systems necessary for affected families considering clinical trials as a care option.

These mothers showed the strength, vulnerability, and true perseverance that their loved one and their family face every day. The least we can do is support them with equal strength, tenacity, and perseverance to bring the patient and family voice into the work we do, delivering with the highest quality and speed available to facilitate improved care for these rare disease patients and communities.

For summaries and more information about FDA’s listening sessions specific to lysosomal storage disorders like CLN2 review listing: Patient Listening Session Summaries | FDA

Hear directly from two mothers in this compelling video: IQVIA’s Parent Voice Video: Battens Disease

References

¹Neuronal Ceroid Lipofuscinosis (Batten Disease) | National Institute of Neurological Disorders and Stroke

²FDA Patient-Focused Drug Development Guidance Series for Enhancing the Incorporation of the Patient’s Voice in Medical Product Development and Regulatory Decision Making | FDA.