Caidya

Henry David Cremisi

We are at the cusp of a new era in therapeutics. Rare and genetic diseases are providing targets for therapeutic intervention and increasingly yield life-changing results for patients and their families. Our tools of intervention are comprised of a spectrum of therapeutics, including oral small molecules, injectables, anti-sense oligonucleotides, gene therapies including CRISPR-Cas-9 and Prime Editing, enzyme replacement, and a host of novel delivery approaches to break barriers to delivery of the investigational product to the target site, including the eye, crossing the blood-brain barrier and beyond.

We are at the dawn of a wellspring of spectacular, promising interventions. Meaningful work is happening broadly in neurologic disease, hearing loss, blindness, cancer, heart disease, kidney disease and beyond.

There are many active, promising programs. Medications for familial ATTR-CM bind to the TTR protein, stabilize the condition, and stop proteins from misfolding, mitigating and slowing disease progression.

Leber congenital amaurosis type 10 (LCA10) results in severe vision loss or blindness in early infancy caused by loss-of-function mutations in the centrosomal protein (CEP290) gene. Meaningful intervention would provide the protein necessary for the assembly of the connecting cilium of photoreceptors and phototransduction.

The autosomal recessive gain of function requires a second hit with interferon γ>β > α, promoting increased APOL1 gene expression, activation of inflammasomes and activation of protein kinase R, electrolyte flux across plasma or intracellular membranes, endoplasmic reticulum stress, podocytopathy, arterio-nephrosclerosis, and accelerated progression to end-stage kidney disease (ESKD).

The breadth and depth of opportunity to address unmet needs, treat the cause versus the consequence of conditions, change lives, and improve the quality and quantity of life are immense. In Shakespeare's ‘Hamlet,’ when Hamlet is contemplating suicide, he says, "To sleep; perchance to dream: ay there's the rub: for in that sleep of death what dreams may come?” But what does "the rub" mean, and from where did it originate?

The 'rub' is medical affairs. Great medical affairs are both strategic and tactical. It is informed and informed. How does your medical affairs leadership address these opportunities and challenges? Can your medical affairs leader energize your advocacy, bring passion to your messaging, be a patient advocate, and lead? How do you design and enroll your trials? Can they galvanize the universe of internal and external stakeholders? Can they facilitate lagging trial enrollment? Do they have the skills and money to intervene, educate, prompt, and cajole? Can they be both entrepreneurial and intrapreneurial? How do they educate and elevate your commercial and marketing colleagues, patient groups, stakeholders, and payers? Through strategy and tactics, how do they advance impactful HEOR and RWE? Do they provide a publication plan that is cogent? How will they engage to amplify your publications for maximal benefit? What is the quality and derived value from how they connect, and does this resonate with your KOLs? How do your treating clinicians respond to your messaging? Is your Omnichannel delivering and informing effectively and on target? To what degree are advisory boards informing and yielding actionable insights? Do they include the right participants, questions, objectives, and yield? Are you getting strategic and tactical value from Phase IV Trials and post-approval registries with supporting narratives and indication expansion?

An effective global strategy requires medical affairs to broaden the stakeholders it engages with. This entails moving beyond the key opinion leaders to meaningful engagement and scientific exchange with community physicians, payers, and other value-based decision-makers. To yield this end, medical affairs needs to be both informed and empowered to support and coordinate with external-facing teams, be visible, educate, inform, align, and advance critical agendas. Great medical affairs are about winning, competing, and delivering on the promise of today’s breakthroughs to approval, strong indications, and market success.

Medical affairs are not a commodity. Your team needs and deserves a medical affairs lead with connectivity, creativity, emotional intelligence, scientific excellence, and communication skills with HEOR, RWE, and publications wherewithal. Medical affairs are your diplomats, your source of scientific and educational credibility, and the crucible through which science meets real-world clinical practice. Diminution of the value and respect for medical affairs in your organization not only compromises your clinical program but can impede life-changing options for patients and their families. Medical affairs and their knowledge, acumen, skills, resourcefulness, gravitas, and relationships can and should be a difference-maker for your strategy team. If not, don’t demean medical affairs, but rather critically seek, build and embrace the medical affairs paradigm your team needs and deserves. Someone with a rare or genetic disease is counting on you to live, to hear, to see etc.