W

hen 6-month-old Asher Camp was diagnosed with type 1 spinal muscular atrophy, a leading genetic cause of infant mortality, his family measured his life in days, not years. They dreaded the future, wondering how much time they would have with their beautiful baby boy.

Parents of children with type 1 spinal muscular atrophy aren’t guaranteed to see their baby’s first steps, first day at school, or other treasured milestones that make up a child’s life. Instead, they watch anxiously as developmental milestones are missed, as common colds require trips to the emergency room, and as hope fades for reaching the day when a cure becomes available.

Asher got lucky. He was able to take advantage of a life-changing opportunity, the kind that needs to be available to all children.

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Just a month after Asher’s parents, Amanda and Jeremy Camp of Lakeland, Fla., received what they thought was a death sentence for their child, they enrolled him in a pioneering clinical trial conducted by Dr. Richard Finkel at Nemours Children’s Hospital in Orlando. Asher joined a group of 20 infants who received a treatment of nusinersen, an experimental drug that uses a tiny fragment of RNA to target the specific genetic disorder at the root of spinal muscular atrophy. The drug increases the production of a protein critical for normal cell function. (The results of this clinical trial were recently reported in the Lancet.)

Since Asher started the trial 42 months ago, he has endured more than 10 treatments of nusinersen, each of them administered by spinal tap. In that time, he has gained strength and, along with it, the ability to sit up, crawl, stand, and propel his wheelchair. He is now a growing 4-year-old living with his illness and making progress that was never thought possible.

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Gaining access to such lifesaving treatment should not be limited to just a fortunate few who are lucky enough to be enrolled in such clinical trials. During the time that Asher has gotten stronger, many other children with spinal muscular atrophy and other disorders have died while trying to hold on until treatment becomes readily available.

Countless families across the country hold vigil over their children who are living with numerous rare disorders, such as spinal muscular atrophy. These children and their families are trapped in a painful numbers game. There simply aren’t enough children with each rare disorder to build a body of scientific evidence to support or refute the effectiveness of potential treatments.

Tragically, systemic obstacles in the world of medical research are denying children the time for hope. Recent research from Boston Children’s Hospital and Harvard Medical School found that almost 20 percent of pediatric clinical trials were never completed, often due to poor enrollment. The same study showed that 30 percent of completed pediatric clinical trials were never even reported in the medical literature.

Terminating a clinical trial before it finishes and not publishing what is learned wastes valuable resources and diminishes families’ significant commitment and contributions to research. Failing to report the results of a completed trial, even if they don’t show a benefit from a new treatment, is also a problem. Reporting on and learning from failures is as important to moving the field forward as reporting on successes. It helps reduce duplication, improves effectiveness in research, and spurs much-needed innovation. Completing trials and reporting the results of all of them will help bridge gaps in our collective knowledge and improve awareness and communication of scientific discovery.

The National Institutes of Health has begun addressing these issues by requiring that studies funded with federal dollars be reported and updated on ClinicalTrials.gov.

There is far too little research funding to waste.

That’s one reason why President Obama’s signing into law Tuesday the 21st Century Cures Act is something to celebrate. It may not be a cure-all, but it will provide billions of dollars and systemic improvements in the next decade, doing more to further medical advances than any other legislation in recent history. The act stands to streamline and facilitate the development, review, and approval of treatments.

The research community is on the cusp of unlocking vital treatments for many rare diseases, as well as many common disorders that burden our society. The funding called for in the act, as well as changes to the approval processes, will speed the discovery and translation of this work to improve lives now and in the future.

There’s also work to be done on the home front. Every medical and research institution needs to look within its own walls to eliminate waste in research. There are many ways to improve the efficiency of research without compromising safety. Streamlining patient recruitment, hastening communication of breakthroughs, and collaborating in networks of clinical research can help move advances to the next level. Our organization is committed to these kinds of efforts and research partnerships to help even more children like Asher get access to life-prolonging and lifesaving treatments.

While perfect solutions in policy, processes, or patient care are hard to come by, we must act to improve medical research, speed discovery, and deliver the gift of time to families and children with rare disorders.

David J. Bailey, MD is president and CEO of Nemours Children’s Health System in Orlando, Fla.

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  • How early after discovery of a new treatment is too early to let patients try it? No one really knows, but clearly earlier than at present in most instances.
    Let’s be more constructive and help FDA realize that patients with rare and untreatable diseases are willing to consider taking much greater risks with safety than people with common chronic but controllable conditions.
    My 2 cents.

  • what you really should be saying is why cant everyone with health problems get cures if they exist? well – ask it that way and the answer is obvious – everthing in this world costs money – Drs and scientists do not work for free – and in the soviet block, pretty much everyone could get the same cures as everyone else, top political elite otherwise of course – but the entire world has rejected that “commie” model for the roll of the dice model -capitalism – yet these same people complain constantly about the roll of the dice aspect of their choice, and want to make exceptions so that very small subsets of humanity can join the elite? why not all lives matter?

  • Boy battling rare disease takes first steps

    In his first year and a half, Isaiah couldn’t lift his arms, move his legs, roll over and had trouble eating. Now, a little over a year into the clinical trial, Isaiah milestones are clear miracles. This week, during a physical therapy visit, Isaiah took his first steps. With the help of his therapist, Isaiah beamed as he walked for the first time, saying to his mom with joy, “Mommy, I walk.”

    “Being able to see him light up and say look at me is better than any other feeling in the whole world,” says Anastassia Kobernik. “Better than anything you could imagine. That joy and sense of hope and that he’s going to be able to do these things and exceed our expectations.”

    The Kobernik’s know Isaiah still has a difficult journey ahead, but they are now more hopeful than ever. Recently, Isaiah got his first wheelchair that he’s now strong enough to maneuver himself. He’s also turning pages of books using his own strength.

    http://q13fox.com/2016/12/21/boy-battling-rare-disease-takes-first-steps/

    Genetically speaking, SMA is an oddity because humans are “unique in that we have two forms of this gene,” Charlotte Sumner told BioWorld Today. “The genetic circumstance of SMA is unusual.”

    Sumner is associate professor of neurology and neuroscience and the senior author of the paper reporting the work, which appeared in the Dec. 22, 2016, issue of Neuron.

    Healthy SMN1, she explained, “always makes a full-length version of the RNA and a full-length version of the protein.”

    Humans also have a varying number of copies of another gene, SMN2, which is capable of making SMN protein.

    Most of the time it doesn’t, though, because of genetic changes in one of its introns that lead to alternative splicing, and the production of SMN protein lacking one of its exons.

    Because that splicing is not perfect, patients with SMA still have some amount of SMN.

    “SMA the disease is due to a reduction of SMN levels, not an absence,” Sumner said. A complete absence of SMN would be fatal.

    Nusinersen, which is to be branded Spinraza, is an antisense oligonucleotide that works by pushing splicing of SMN2 transcripts toward full-length versions of the protein. In the phase III CHERISH and ENDEAR studies, it was effective at improving motor symptoms in infants and children with type I and type II SMA. Biogen filed an NDA for the drug in October. The FDA has granted priority review. Approval is widely expected – possibly before year-end – and would make the drug the first approved therapeutic for treating SMA. (See BioWorld Today, Nov. 8, 2016.)

    It is something of an irony that nusinersen’s mechanism of action means it will work best in people who have milder forms of SMA to begin with.

    http://www.bioworld.com/content/nusinersen-may-get-some-help-second-aso

  • Maybe Ionis should move to Israel?

    Israel’s BrainStorm to begin advanced trial for ALS stem cell treatment

    BrainStorm plans to submit an application in Israel that will allow patient access to NurOwn as a treatment that has been granted Hospital Exemption. This recently approved pathway would permit BrainStorm to partner with a medical centre in Israel and be allowed to treat patients with NurOwn for a fee.

    This pathway usually involves a custom-made product, such as NurOwn, which is made using a patient’s own cells.

    “We foresee possible treatments under this pathway as early as the second half of 2017,” Lebovits said.

    http://finance.yahoo.com/news/israels-brainstorm-begin-advanced-trial-090832660.html

  • Yes – the system is broken . The SMA pt. families knew about this drug yrs ago , but could not get it. The co. gave no compassionate use . The FDA can’t catch up to 21st century drugs even when it tries . The FDA ‘s drug approval system is a 20th century slow bureaucratic crawl. Nusinersen is just one of many examples. The compassionate use system is broken also. Pharma gives almost no ” compassionate ” use before approval . The dying pts. are seen by them as ” investment risks ” . The Slow FDA nitpicks and denies real world evidence as seen in the ridiculous Duchennes etiplersen battle. This bureaucracy only increases the odds of a dying pt. getting any ” compassion from pharma co.’s. Who knows when a drug will get approved ? My wife’s curative cancer drug , Kadcyla, was inexplicably denied early approval by an FDA bent on extending , rather than shortening time to approval in Pres. Obama’s 1st term . That was not the only drug held up despite clinical trial evidence of miraculous healing. No wonder we pt. activists are skeptical . There is no accountability on the FDA for it’s secretive decisions. 21st century cures is a start , but the cruel, slow, 7 -10 yrs approval system must step into the 21st century . 21st century cures does almost nothing to reform the lack of compassionate use . requires co.’s to post a ” policy ” – big whoop . we pt. activists want a lot more.

    • Phil,
      You’re right…they don’t care…..because it’s a money game…pure and simple. The Foundations, University research centers, corporations, etc all shower in the money flows…..they find work arounds for all kinds of obstacles except getting patients access to treatments.

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