Her mother, Tonia, brought her into Boston Children’s Hospital for the Infant Sibling Project, which works with babies who are at increased risk of developing ASD in hopes of discovering early brain biomarkers for the disorder. This is Mila’s fifth visit; she’s been coming to the Labs of Cognitive Neuroscience for testing since the age of 3 months. Full story »
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The start of what promises to be a lengthy, multi-part endeavor has begun unfolding on Capitol Hill. It’s an attempt to reform the Medicaid program so that children with medical complexity (those with a single, serious medical condition, or multiple chronic conditions) can receive higher quality care with fewer emergency department visits and fewer hospital admissions.
When you think of medically complex children, think of children living with conditions such as spina bifida or cerebral palsy, children dependent on ventilators or feeding tubes, or children with genetic disorders. They represent just 6 percent of the 43 million children on Medicaid—yet they account for about 40 percent of Medicaid’s spending on children. Their care is often fragmented and poorly coordinated.
The reform effort, led by more than 60 participating pediatric hospitals and supported by the Children’s Hospital Association (CHA), focuses on Medicaid because it’s the single largest insurance provider for children. The backdrop is a cost-conscious Congress that’s the most politically polarized ever, passing the fewest bills ever. Full story »
A recently identified form of early-onset IBD shows up within months of birth, causing severe inflammation in the large intestine and abscesses around the anus. Recently linked to genetic mutations in the cellular receptor for a signaling protein, interleukin-10 (IL-10), it can also lead to lymphoma later in life.
As with all early-onset IBD, IL-10-receptor deficiency has no good treatment. A bone marrow transplant is actually curative, but carries many risks, especially in infants.
“We’ve been trying to understand why IBD in these children is so severe and presents so early,” says Dror Shouval, MD, a pediatric gastroenterologist at Boston Children’s Hospital and a fellow in the lab of Scott Snapper, MD, PhD. The beginnings of such an understanding—detailed recently in the journal Immunity—could lead to a new treatment approach for this and perhaps other kinds of early-onset IBD. Full story »
Researchers led by Frank H. Duffy, MD, of the Epilepsy Center at Boston Children’s Hospital, looked back at 20 children 3 to 5 years old with documented regressive ASD who had received steroid therapy (prednisolone) under a neurologist’s supervision, generally starting several months after their regression was noted. For comparison, the team also reviewed data from 24 similar autistic children who did not receive steroids. Full story »
What happens when you try to scale up a successful quality initiative? Eric Fleegler, MD, MPH, and Eugenia Chan, MD, MPH, are facing that challenge with ICISS, their web-based system that went quickly from ideation to adoption by 3,000 patients with attention deficit hyperactivity disorder (ADHD) and their families.
ICISS enables parents, teachers and patients to give online updates on medications, symptoms and school performance in close to real time, then packages that data for clinicians in a visual, actionable fashion. But tasked with introducing ICISS into four other clinics at Boston Children’s Hospital—autism, asthma, depression and epilepsy—a raft of practical, legal and philosophical questions came up about how to handle these patient-generated health data. For example:
- How should we inform families that they need to contact their provider directly with immediate concerns?
- What if a parent indicates that a child is at risk of self-harm, and how can we manage this in a timely manner?
- How can clinics afford to hire additional staff to screen and manage alerts from ICISS when this activity is non-reimbursable?
- What is the obligation of the provider if actionable data show up months in advance of the scheduled visit?
Fleegler and Chan discuss the challenges and lessons learned in our sister publication, Innovation Insider. We’d be interested to hear from others facing similar questions in handling patient-generated health data.
Today, a variety of approaches that attempt to either restore dystrophin or compensate for its loss are in the therapeutic pipeline.
It was the variability that intrigued pediatric cardiologist William Pu, MD, about his patient with heart failure. The boy suffered from a rare genetic mitochondrial disorder called Barth syndrome. While he ultimately needed a heart transplant, his heart function seemed to vary day-to-day, consistent with reports in the medical literature.
“Often patients present in infancy with severe heart failure, then in childhood it gets much better, and in the teen years, much worse,” says Pu, of the Cardiology Research Center at Boston Children’s Hospital. “This reversibility suggests that this is a disease we should really be able to fix.”
Though it needs much more testing, a potential fix may now be in sight for Barth syndrome, which has no specific treatment and also causes skeletal muscle weakness and low white-blood-cell counts. It’s taken the work of multiple labs collaborating across institutional lines. Full story »
Perhaps counter-intuitively, rare diseases can present attractive business opportunities for pharmaceutical companies. As discussed previously on Vector, they generally offer:
1) a population of patients with a high, unmet need, greatly lowering the bar to FDA approval
2) a closely networked disease community, greatly lowering the bar to creating disease registries and mounting clinical trials
3) well-studied disease pathways.
Recoiling from expensive failures of would-be blockbuster drugs, companies like Pfizer, Novartis, GlaxoSmithKline, Sanofi, Shire and Roche are embracing rare diseases, despite their small market sizes, because of their much clearer path to clinic. But in the current risk-averse industry environment, some projects are stalling. Industry may need more incentive to jump in—and Cydan Development is basing its business model on providing it. Full story »
Last November, the U.S. Food and Drug Administration issued a “cease and desist” order to 23andMe, a major purveyor of direct-to-consumer (DTC) genetic testing. In its letter to the company—issued after three prior warnings—the FDA reiterated its view that 23andMe’s Personal Genome Service (PGS) constitutes a medical device requiring further premarket evaluation:
FDA is concerned about the public health consequences of inaccurate results from the PGS device…we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses.
The FDA’s order, based on potential rather than actual medical harm, has generated a great deal of controversy. In a recent critique published in Nature, Robert Green, MD, MPH, of the Partners HealthCare Center for Personalized Genetic Medicine, and Nita Farahany, PhD, JD, of the Duke Institute for Genome Sciences and Policy, argued against regulating DTC genomic interpretation services as medical devices:
… doing so could put FDA regulations in greater tension with the First Amendment of the US Constitution, which protects the rights of individuals to receive information, and of ‘commercial speech’ ….the agency should avoid restricting consumer genomic testing unless faced with empirical evidence of harm. Full story »
However, two under-recognized, highly preventable chronic conditions—spina bifida and hydrocephalus—have not declined in low- and middle-income countries. Each year, there are an estimated 200,000 new cases of infant hydrocephalus in sub-Saharan Africa alone, and 100,000 neural tube defects in India alone. As other causes of death and disability recede, data suggest that spina bifida and hydrocephalus are gaining a larger share of mortality in young children.
A multi-institution conference at Boston Children’s Hospital on April 11 sounded a global call to action, convening a mix of surgeons, pediatric neurologists, international patient advocacy groups, food fortification proponents, health economists, obstetricians, neuroscientists and others. Many innovative approaches are being explored, including two that caught Vector’s eye. Full story »