Restless Legs Syndrome Foundation Blog

RLS: A Real Lousy Syndrome, Part 2

A Poem by Jim Healey

Two months ago, I wrote a poem

About my battle with RLS.

I emphasized my lost sleep,

But now that loss is much less.

Things have changed a lot since then,

At shows, I'm not standing in the back.

On airplanes now, I can stay in my seat,

And I sleep when I hit the sack.

I've read for years that alcohol's no good

For people with our affliction.

Could two drinks a day make any difference at all?

My answer was, "no," with conviction.

But I had to find out, so I gave up the booze.

I hoped this experiment would fail.

But I'm here to tell you, it's a rousing success,

My symptoms are on the pale.

My meds are the same with a bit lower dose,

But the pains are fewer and weaker.

I miss my Old Fashioneds, but I found a fake beer

That tastes okay and it's cheaper.

My wife lets me drive more than before,

'Cause now my leg's not her foe.

You might say I traded booze for snooze,

Wish I'd done it four decades ago!

Foundation-Funded RLS Study Hits the Ground Running

In May 2017, John Winkelman, MD, PhD, of Harvard Medical School was awarded a two-year RLS Foundation grant for $144,000 to produce a pilot study on the use of opioids to treat restless legs syndrome. His study, “Multi-center Longitudinal Pilot Observational Study of Efficacy and Tolerability of Long-term Treatment of Restless Legs Syndrome Using Opioids," aims to establish the long-term safety and effectiveness of opioids for managing RLS symptoms, leading to the development of a National RLS Opioid Registry.

In the age of augmentation, opioids have been a successful strategy in treating those with refractory RLS (RLS that is not responsive to other treatments). The work of RLS pioneers Sir Thomas Willis in 1672 and Karl-Axel Ekbom in 1945 supports opioids as a viable treatment option, yet modern clinical studies are limited. The current opioid crisis is also restricting many healthcare providers from prescribing these medications – a lifeline to many who are suffering with severe RLS. Dr. Winkelman's study hopes to bridge the gap in information among the medical community by gathering data on the efficacy and safety of opioids for the treatment of RLS.

"The survey instruments for the [study] were modified and improved based on valuable feedback from RLSF [volunteers], members of the RLSF, and clinicians at the Quality Care Centers," Dr. Winkelman said. "We aim to accurately answer questions about the efficacy and safety of opioid medications for the treatment of RLS, and in doing so, we are keeping with the RLSF’s mission to improve the lives of those living with RLS."

How it will work

Participants in Dr. Winkelman's study will do a phone interview with a researcher for approximately 45 minutes. These questions will prompt responses about RLS symptoms, past and current medications, dosages, and opioid side effects, as well as more sensitive information about psychiatric conditions and other opioid risk factors.

Afterwards, participants will complete an online survey which will cover medical history, sleep behavior, habits, recreational drug use, and mood. Every six months following the initial phone interview, participants will receive a follow-up online survey that will take about 30 minutes, covering a combination of follow-up questions from the phone interview and the online survey.

How to get involved

Enrollment is limited to:

1. Individuals with a diagnosis of RLS (confirmed by the Hening-Hopkins Telephone Interview at the start of the phone interview)
2. Who are taking an opioid medication for RLS (which may be confirmed by state prescription drug monitoring programs)
3. Have taken (or are currently taking) a dopamine agonist for RLS treatment

Dr. Winkelman and his team are recruiting participants from patients of RLS Quality Care Centers and through the RLS Foundation. If you are interested in participating in this groundbreaking study, contact Dr. Winkelman and his research team directly:

• Call: Julia Purks, 617-643-2082
• Email: RLSregistry@partners.org
• Visit: www.massgeneral.org/rls-registry

"I would like to thank the members of the Restless Legs Syndrome Foundation for their generosity and support," Winkelman said. "[This study] is important for the future of RLS treatment, and I am grateful for the opportunity to build it."

John W. Winkelman, MD, PhD, is a Professor of Psychiatry at Harvard Medical School and director of the RLS Quality Care Center at Massachusetts General Hospital. He has served on the RLS Foundation Medical Advisory Board (now the Scientific and Medical Advisory Board ) since 2000, and on the Executive Committee of the International Restless Legs Syndrome Study Group. He was also chair of the Treatment Guideline Committee for the treatment of RLS at American Academy of Neurology.

Dr. Winkelman’s research interests include sleep-related movement disorders, insomnia and parasomnias. He is a leading expert on RLS, has published several textbooks, and has authored over 100 articles in sleep medicine. Notably for RLS, he published seminal work on cardiovascular disease and on end-stage renal disease.

New Genes Discovered that Contribute to Risk of RLS

Last month, researchers reported the identification of thirteen new gene loci that increase the risk for developing restless legs syndrome. This is a major milestone in demonstrating the power of genomics and its capacity to locate genes responsible for certain diseases.

It has long been known that RLS runs in families. Parents with RLS often have children, or even grandchildren, that exhibit signs of restless legs. Many adults with RLS recall their parents experiencing RLS symptoms decades prior, before the disorder had a recognized name. However, discovering how and why this familial phenomenon occurs has been difficult.

To date, the most successful research method in searching for genes associated with RLS has been genome-wide association studies (GWAS). This strategy involves using a large pool of individuals -- divided into a group with RLS and a group without RLS -- and screening common variants in their DNA.

In 2007, a GWAS study in the Icelandic population, funded in part by the RLS Foundation grant to Dr. David Rye of Emory University, identified for the first time a gene variant on BTBD9 that was associated with the “risk” of developing RLS. Subsequent studies by Dr. Juliane Winkelmann of Technical University of Munich and others further broadened the number of genes that were potentially involved in the risk of developing RLS.

In this most recent study, "Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis," researchers from many countries in Europe and North America combined three GWAS datasets, totaling 15,126 individuals with RLS and 95,725 individuals without RLS. The researchers then went to work on searching for genome-wide signals. To confirm their results, they used data from an additional 30,770 individuals with RLS and 286,913 individuals without RLS to ensure that their data could be replicated. And it could.

The study revealed strong evidence for 19 genes that contribute to the risk of RLS, 13 of which were new discoveries. Additional analyses also found:

• The strongest risk factor for RLS was confirmed as gene locus MEIS1.
• A strong association was observed near the CRBN gene locus.

While last month's study did not prove that these 19 gene variants cause RLS, it is certain to help future research better understand the molecular causes of the disease, ultimately leading to the development of new treatment options for this serious neurological condition.

Thank You from Our Executive Director

As we plan for the season of giving thanks and gathering with family and friends, I want to be the first to thank each of you for your loyal support to the RLS Foundation. Your gifts have allowed a once tiny organization of a committed group of volunteers to grow and become the voice of the RLS community for 25 years.

We value our relationship with you, and want you to know that the RLS Foundation is here when you need us. As a nonprofit organization, our priority is clear: to support and serve the RLS community. Through our network of resources, you can remain connected to people who care and can relate to your concerns.

• Our online Discussion Board and blog, as well as our social media outlets ( Facebook, Twitter, Instagram and others) provide instant connection to others.
• Our staff is here to help you with a listening ear and informational materials, and can help identify RLS providers in your community and at certified RLS Quality Care Centers.
• Our network of volunteers are there to support you via phone or email, and through comforting and informational support group meetings.

On November 28, we hope you will join us on #GivingTuesday, the global celebration of giving. Membership is the lifeblood of our organization, and allows for us to provide integral resources to everyone suffering from this often-misunderstood disease. Your $35 each year directly strengthens our programs, including sponsoring research, producing educational events and materials, maintaining support groups, and providing assistance online.

Considering membership but haven't taken action? Know someone that would benefit from membership? Want to give the gift of membership to someone in need? Take action so we can reach our goal of 25 NEW Foundation members by the end of #GivingTuesday!

Your support makes a real difference in the lives of individuals living with RLS and their families.

Sincerely,

Karla Dzienkowski, RN, BSN

Executive Director

Foundation Welcomes Third New Board Member in 2017

We are pleased to welcome a brand new member to the RLS Foundation's Board of Directors, Carla Rahn Phillips, PhD!

Dr. Phillips was born in Los Angeles, California. She earned her B.A. in History at nearby Pomona College in Claremont and her Master’s and Ph.D. degrees at New York University. She then joined the History Department at the University of Minnesota and taught there for more than 40 years, retiring in 2013 as the Union Pacific Professor in Comparative Early Modern History.

Her teaching and research have focused on Europe, with an emphasis on Spain and its overseas connections in the period from the late 15th to the late 18th centuries. Among her publications are The Struggle for the South Atlantic: The Armada of the Strait, 1581–84, editor and translator (London, 2016); The Treasure of the San José: Death at Sea in the War of the Spanish Succession (Baltimore, 2007); “Visualizing Imperium: The ‘Virgin of the Seafarers’ and Spain’s Self–Image in the Early Sixteenth Century,” Renaissance Quarterly, 58, No. 3 (Fall 2005): 815–856; "'The Life Blood of the Navy': Recruiting Sailors in Eighteenth–Century Spain," The Mariner's Mirror 87, No. 4 (November 2001): 420–445; "Time and Duration: A Model for the Economy of Early Modern Spain," American Historical Review 92 (June 1987): 531–62; and Six Galleons for the King of Spain: Imperial Defense in the Early Seventeenth Century (Baltimore, 1986).

In addition, Dr. Phillips has published three books and numerous articles with her husband, William D. Phillips, Jr., among them A Concise History of Spain (Cambridge, 2010, 2016); Spain's Golden Fleece: Wool Production and the Wool Trade from the Middle Ages to the Nineteenth (Baltimore, 1997); and The Worlds of Christopher Columbus (Cambridge, 1992).

"A distinguished academic and scholar of international stature, Dr. Phillips would be an asset to any organization," said Linda Secretan, RLS Foundation support group leader, fellow board member and head of the board's Governance and Nomination Committee. "We are pleased and honored that she has chosen to join our board. We hope to tap into her experience and acumen to make some RLS Foundation history of our own."

Now retired and living in central Texas, Dr. Phillips continues her research and writing, as well as being active in several professional organizations. Over the years she has held major offices in the American Historical Association (15,000 members), the Association for Spanish and Portuguese Historical Studies, and the Forum on European Expansion and Global Interaction, among others.

She was diagnosed with RLS more than 20 years ago, but the symptoms are currently controlled with medication. She is very pleased to join the board of the RLS Foundation in order to participate in its important work.

Welcome to the team, Dr. Phillips!

New Support Group Leader in Portland, OR

The Foundation is pleased to welcome Donna Rivers as the new support group leader in Portland, Oregon. Thank you, Donna, and welcome!

“My desire to become a support group leader for the RLS Foundation is directly related to my personal struggle with the disease. During my longstanding battle with RLS, I have concluded the public, as well as some physicians, lacks knowledge regarding RLS and periodic limb movement disorder (PLMD).

"Until I found the RLS Foundation, I felt very alone in my suffering. I am grateful beyond words that the Foundation is on the front lines of support, education and research. I recently retired from a 34-year career in nursing. I enjoy learning and helping people, as this has been an integral part of my life. I hope my volunteer role will benefit other RLS/PLMD sufferers in the greater Portland metro area.” – Donna Rivers

Stay up to date with all upcoming RLS Foundation support group meetings on our website or Facebook page. All volunteer support group leaders and contacts are available via phone or email to provide support. Search by city or state to find one near you!

Interested in becoming a volunteer RLS Foundation support group leader? Visit our website to learn more about the role and how to apply!

RLS Training for Doctors Would Be Cost Effective, Study Shows

An excerpt from the spring 2017 edition of NightWalkers, the Foundation's quarterly magazine

Recent research findings make the case for investment in a longterm infrastructure to train primary care providers in the United States to recognize and treat RLS. Currently, doctors do not receive such training in medical schools.

In 2016, the RLS Foundation awarded a research grant to William Padula, PhD, of Johns Hopkins Bloomberg School of Public Health, to conduct an economic study on the value of accurately diagnosing and treating RLS. Padula, in collaboration with Christopher J. Earley, MD, MB, BCh, PhD, FRCPI, at Johns Hopkins Medicine; and Charles E. Phelps, PhD, MBA, at the University of Rochester; concluded that training primary care providers to correctly diagnose RLS would be cost effective. They found that in 65 percent of cases, the cost of training is expected to be lower than costs related to patients’ medical care, as well as lost work and time.

Padula and Phelps will co-present their findings at the annual meeting of the International Society of Pharmacoeconomics and Outcomes Research (ISPOR) in May, and are preparing the results for publication in a medical journal.

“We hope that in addition to publishing these findings, headway can be made to incorporate training on RLS treatment into standard postgraduate medical curriculum for many of the primary and secondary medical disciplines,” says Padula. “This scientific evidence on value is sure to help.”

The study sheds light on a vexing problem: Since RLS is not covered in the medical school curriculum, patients who have RLS are commonly misdiagnosed by inexperienced or undertrained providers as having other chronic conditions with similar symptoms, such as Parkinson’s disease (PD), attention deficit hyperactivity disorder (ADHD) or sleep deprivation. Some evidence shows that the misdiagnosis and subsequent treatment for the wrong condition leads to worsening patient outcomes and high accumulated costs of care.

For example, a patient who is misdiagnosed with ADHD may take medications that actually worsen RLS symptoms, and subsequently be misdiagnosed with PD. The period of misdiagnosis commonly persists for years, taking a significant toll on sleep and quality of life.

The researchers collaborated on the design of a cost-effectiveness analysis to model scenarios of costly misdiagnoses leading to poor patient outcomes, as opposed to properly treating RLS. They applied their model using information from a comprehensive review of medical literature.

Padula’s economic analysis on the costs of RLS is the first of its kind in the United States and will support the Foundation’s efforts to expand provider education.

“Understanding the underlying factors – such as lack of provider education – that delay access to treatment and addressing them will ultimately improve patient outcomes,” says Karla Dzienkowski, RN, BSN, executive director of the RLS Foundation.

She adds, “Dr. Padula’s study underscores the economic impact of RLS and burden of disease for individuals living with RLS. It is our hope that this research provides RLS researchers valuable information to secure future funding from the National Institutes of Health, Department of Defense, and other sources.”

Want to subscribe to NightWalkers? Become a member today to receive this quarterly member publication, along with other member benefits!