MedCity Influencers, BioPharma

Widening the lens for rare disease and pediatric research

Of the 30 million Americans affected by rare diseases, more than half are children. It's a tough population to treat, but we can start with a simple two-part question: How is the disease affecting the child’s life and what can we do to make it better?

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“Research brings hope.”

This global theme of the recent 2017 Rare Disease Day is a poignant reminder to everyone in the pharmaceutical industry that our work touches millions of people worldwide on a deeply personal level.

The main objective of Rare Disease Day is to raise awareness with the general public and decision-makers about rare diseases and their impact on patients’ lives. Yet to fully support this goal, our industry must better understand and address all aspects of the disease burden.

For those involved in rare disease research, the efforts often carry special meaning and urgency as they deal with the most vulnerable cohorts, particularly children with rare diseases. Of the 30 million Americans affected by rare diseases and disorders, more than half are children. We have a shared responsibility to learn more and do more to bring hope for better lives to these millions of children and their families.

New opportunities to advance pediatric research

Drug research and development in the pediatric setting often takes a backseat, due primarily to the costs and risks. Developing drugs for children is extremely difficult and can be more complicated than developing treatments for adult indications for numerous reasons, including:

  • Considerably smaller patient populations for most diseases
  • The complexity of conducting pediatric clinical trials, including the inherent logistical, clinical and ethical challenges of enrolling and treating children
  • Higher regulatory thresholds for burden of proof
  • The desire to protect vulnerable pediatric patients from clinical trial experimentation

Recognizing these potential challenges, the government has initiated programs to incentivize drug companies to sponsor pediatric clinical trials. For example, the Best Pharmaceuticals for Children Act and Pediatric Research Equity Act encourage manufacturers to conduct pediatric studies by extending exclusivity for drugs already on the market. The FDA reports that this legislation has resulted in significant progress in terms of the number, timeliness, and successful completion of drug studies in pediatric populations.

The challenges of pediatric research in rare diseases are even more acute. Yet despite the obstacles, more specialty pediatric drugs are being developed, thanks in part to the Orphan Drug Act, since many orphan diseases express themselves in children. In addition, the FDA offers incentives through the Rare Pediatric Disease Priority Review Voucher (RP-PRV) program. This rewards select companies gaining regulatory approval for a drug aimed at pediatric rare diseases that are serious or life-threatening. The company can use the RP-PRV to expedite review of one of its own future products or sell it to another company.

A road less traveled: Easing the treatment burden for children with GHD

Although such incentives are helping to accelerate innovative treatments, relatively few compounds are designed specifically for children. In effect, this may force physicians to make educated guesses about optimal dosing and outcomes when using drugs to treat pediatric conditions that were originally approved for adult indications. A survey of pediatric physicians found that 30 percent don’t believe there are sufficient drug therapy options in the area of pediatrics, and three out of four treat pediatric patients off-label.

Innovations in pediatric research require a wide-angle view that can start with a simple, two-part question: How is the disease affecting the child’s life and what can we do to make it better? We must recognize that children’s experiences and feelings are vastly different than those of adults and become more attuned to their unique needs.

One example is children who suffer from growth hormone deficiency (GHD). Although effective GHD treatments are available, patients have to get an injection of recombinant human growth hormone (rhGH) every day for approximately 6-8 years of their young lives. It’s a burden that also lands on the parents or caregivers who must give these injections.

The good news is that, with early diagnosis and treatment, a child with GHD can grow to near-normal expected adult height. Yet, not surprisingly, therapy adherence is a huge problem. One study of nearly 900 patients (of whom more than 700 were children or adolescents) receiving growth hormone (GH) therapy found that nearly two-thirds were not fully compliant with daily therapy.

Several companies, including Versartis, have recognized the easing of treatment burden for children as a unique opportunity to potentially improve important long-term adherence rates to optimize outcomes. One strategy to achieve this is to develop longer-acting forms of growth hormone to treat children with GHD.  As the Growth Hormone Research Society (GRS) noted last year, “by decreasing injection frequency, long-acting GH formulations may improve adherence and thereby potentially maximize clinical efficacy.”

Patient enrollment for many pediatric orphan diseases is challenging because parents are asked to have the most important person in their lives try something new instead of approved drugs that are readily available. The key to overcoming this hurdle is to commit considerable resources and partner with others dedicated to the cause.

Countless innovations are waiting to be discovered in both pediatric and rare disease research. Such advances may come in many different forms, from unique formulations to better therapeutic regimes that make more sense to children and their unique lifestyles. It’s just a matter of looking and prioritizing these patient populations, despite the challenges they present. As the slogan of this year’s Rare Disease Day reminds us, “With research, possibilities are limitless.”

Photo: BigStock


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Jay Shepard

Jay Shepard is president and CEO of Versartis. Jay has more than 33 years of experience across pharmaceutical, biotechnology and drug delivery companies, most recently as an Executive Partner at Sofinnova Ventures, a healthcare-focused venture capital firm, where he leveraged his industry expertise in support of the firm’s portfolio companies and served as Executive Chairman of the Versartis Board of Directors since early 2014. Previously, he was President and CEO of NextWave Pharmaceuticals, a pediatric-focused company acquired by Pfizer; President and CEO of Ilypsa, a nephrology company acquired by Amgen; and interim President and CEO of Relypsa (Ilypsa’s spin-out company).

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