You are here

Research Briefs October 2017

Experimental Drug Slows Niemann-Pick Disease

“Encouraging results” from a study with an experimental drug offer hope to patients with Niemann-Pick disease type-C1 (NPC1), a fatal neurological disorder affecting children and adolescents.

NPC1 symptoms result from cholesterol building up in brain cells. The experimental drug VTS-270 showed signs of improving cholesterol metabolism in neurons. After treatment, a molecule derived from cholesterol metabolism in neurons had increased, and two proteins indicative of brain injury had decreased.

In a phase 1/2a clinical trial, 14 participants received VTS-270 once a month for 12 to 18 months and three patients received the drug every two weeks for 18 months. After observing that the drug was safe and well tolerated, the researchers increased the dosing for all participants. The patients’ progress was compared with that of 21 participants in a previous study of NPC1.

The researchers evaluated the drug’s effectiveness using a neurological severity score (higher scores indicated more severe disease). Participants treated with VTS-270 had lower scores in cognition, speech, and mobility, indicating that the drug can stabilize or slow disease progression.

No serious adverse outcomes were observed in the trial, but earlier studies had shown that the treatment carries a risk for hearing loss. After treatment in this study, participants, most of whom had already lost some hearing due to the disease, had further loss, for which they compensated with hearing aids.

Source: National Institutes of Health, August 2017

Diabetes Is “Strong” Predictor of Dementia

Cardiovascular risk factors, such as diabetes and high blood pressure, increase the risk of dementia. That’s not new information, but a long-term National Institutes of Health-funded study found not only that diabetes is almost as strong a predictor of dementia as the APOE4 gene, but that prehypertension is a risk factor as well.

The researchers analyzed data on 15,744 participants 45 to 64 years of age in the Atherosclerosis Risk in Communities (ARIC) study. Over the course of 25 years, the participants were examined five times, including being given cognitive tests during all but the first and third exams.

Over an average of 23 follow-up years, 1,516 people were diagnosed with dementia. During the time of the first exams, the risk of dementia increased most strongly with age, followed by the presence of APOE4. But as time went on, the link between cardiovascular risk factors and dementia became clearer. A separate study of an ARIC subgroup found that the presence of one or more vascular risk factors during midlife was associated with higher levels of beta amyloid, a protein that often accumulates in the brains of Alzheimer’s patients. The relationship was not affected by the presence of the APOE4 gene.

When the researchers reanalyzed the data according to who had had a stroke, they found similar results: Diabetes, hypertension, prehypertension, and smoking raised the risk of dementia for people who had a stroke and those who had not.

“Our results contribute to a growing body of evidence linking midlife vascular health to dementia,” said study leader Rebecca Gottesman, MD, PhD, professor of neurology at Johns Hopkins. “These are modifiable risk factors. Our hope is that by addressing these types of factors early, people can reduce the chances that they will suffer from dementia later in life.”

Source: National Institutes of Health, August 2017

New Data Show Rise in Epilepsy

Between 2010 and 2015, the number of adults with active epilepsy rose from 2.3 million to 3.0 million, according to the Centers for Disease Control and Prevention (CDC), and the number of children with epilepsy rose from 450,000 to 470,000.

The increases are likely due to population growth, the CDC says, or other unknown factors, such as an increased willingness to disclose. However, most states do not have data on epilepsy prevalence. This is the first time estimates have been modeled for every state. Moreover, epilepsy has been assessed only intermittently in population surveys. Before 2010, the last national estimates were based on data from 1986–1990.

Epilepsy is not rare and is a serious public health issue. People with epilepsy often have other conditions, such as stroke, heart disease, depression, or developmental delay, that complicate epilepsy management, impair quality of life, and contribute to early mortality, the CDC says. Epilepsy is also the costliest and second most common of five chronic conditions that have an adverse impact on academic and health outcomes in children and adolescents. For instance, children with seizures are more likely to live in poverty and their parents more frequently report food insecurity.

The CDC suggests that health care providers and others can use the findings to ensure that evidence-based programs meet the complex needs of adults and children living with epilepsy and reduce the disparities resulting from it.

Source: CDC, August 2017

HIV Monitoring Report: Progress Is Being Made

The number of people living with human immunodeficiency virus (HIV) infection who have it under control is increasing in the United States, according to recently released data. In 2014, of the estimated 1.1 million people living with HIV, 85% were diagnosed and 49% were controlling the virus through HIV treatment. In comparison, in 2010, 83% were diagnosed but only 28% were controlling the virus. The data were published in the Centers for Disease Control and Prevention (CDC) report, Monitoring Selected National HIV Prevention and Care Objectives by Using HIV Surveillance Data.

The CDC says making testing and treatment more available, plus updated treatment guidelines released in 2012 that recommended treatment for all people with HIV infection, were “likely major contributors” to driving down annual infections by 18% between 2008 and 2014.

Progress is steady, but not yet enough, the CDC says. In 2014, 37,600 new HIV infections were diagnosed. Of the HIV infections diagnosed during 2015, 22% were classified as stage 3 (acquired immunodeficiency syndrome [AIDS]), although the percentages had declined from 2010. Nine of 10 HIV infections are transmitted by people who are not diagnosed or are not in care. Young people are at the highest risk: According to the CDC estimates, only 56% of 13- to 24-year-olds with HIV were diagnosed, and only 27% had the virus under control.

However, patients are more often getting appropriate care sooner. Of 28,238 people who were diagnosed during 2015, 75% were linked to HIV medical care within one month of diagnosis and 84% within three months.

“The Monitoring report signals that we are making progress on most of our national HIV prevention, care, and treatment goals,” Richard Wolitski, PhD, Director of the Office of HIV/AIDS and Infectious Disease Policy, said in a blog post. “It also shows us where we need to do better and reassess our efforts, diagnose the problems, and use this information to make the changes to our policies, programs, and services that are needed to turn the results around.”

Source: CDC, July 2017

The Prognostic Value of Circulating Plasma Cells in Multiple Myeloma

Some studies have suggested that circulating plasma cells (CPCs) might have prognostic value in multiple myeloma, but the findings remain controversial, researchers from Zhengzhou University in China say. However, the development of highly sensitive and specific diagnostic methods, such as polymerase chain reaction (PCR) and flow cytometry (FCM), they say, make it possible to explore whether CPCs can serve as a biomarker in multiple myeloma. To that end, they conducted the first meta-analysis to provide better insight into the prognostic value of CPCs in the disease.

They examined findings from 11 studies involving 2,943 patients in five countries. Peripheral blood samples were analyzed using FCM, PCR, slide-based immunofluorescence assay, and conventional morphology.

CPC status reflected aggressive disease more than tumor burden, the researchers say. Patients in the CPC-positive groups had more aggressive disease and a worse overall survival (OS) rate compared with patients in the CPC-negative groups. The presence of CPCs was “strikingly” associated with elevated international staging system score, but not the Durie-Salm staging system score. This may be associated, the researchers suggest, with the fact that Durie-Salm staging predominantly reflects tumor burden, which is reduced significantly by newer therapies.

In subgroup analyses, the patients in the FCM and conventional morphology groups had worse prognoses for both disease progression and OS. The PCR subgroup showed prognostic significance for disease progression but not OS, while the immunofluorescence subgroup showed prognostic significance for OS but not disease progression.

One question the researchers were also interested in answering was whether it mattered when the sample was taken. However, pooled hazard ratios for OS and disease progression were “fairly stable,” they say, and not influenced by sampling time. Regardless of whether CPCs are detected in an early stage or in relapse patients, they add, CPC status may serve as a useful tool to guide treatment and prognosis.

Source: PLoS ONE, July 2017

Diabetes Patients at Higher Risk for Cancer Surgery

Patients with diabetes—especially the elderly—are at high risk for morbidity and mortality due to cancer, studies have shown. Researchers from Specialist District Hospital and University of Rzeszow in Poland say their study “sheds some new light” in demonstrating another kind of association between diabetes and cancer in older patients: a higher risk of hospitalization for surgery due to cancer.

They analyzed data on 7,694 patients 45 years of age and older who were hospitalized in a surgery ward. Of those patients, 652 were diagnosed with cancer and 370 with diabetes; 93 patients had both. The most common kind of cancer was urinary bladder cancer. (The researchers note, however, that their surgical unit has a large urology subdivision. Patients with other site-specific cancers are usually referred to more specialized clinical units.)

Diabetes was the strongest predictor of risk among the variables analyzed (although urban residence was also a significant predictor). Risk of hospitalization due to cancer doubled among diabetic patients ages 45 to 65 years, and was more than five times higher among patients older than 65 years of age, compared with the nondiabetic patients. The highest risk of hospitalization for site-specific cancers was among patients with kidney and breast cancers.

The researchers say their findings suggest that it’s “advisable to make major efforts” for early detection and early radical treatment in older patients with diabetes.

Source: Archives of Medical Science, August 2017