Annual Tractor Cruise Supports ASF
29 Sep

Olsen Tractor Cruise 2014

Olsen FamilyEvery year, the Olsen Family—Keith, Denise and their children—hosts a Tractor Cruise fundraiser in support of the Angelman syndrome community. Held on Labor Day, this year’s cruise featured nearly 40 tractors that proceeded on a 40-mile trip on Brown County, Kansas roads. With beautiful weather for everyone to enjoy during the whole day, the group took a lunch break at the local Agricultural Museum, where the Brown County Historical Society helped serve a delicious meal for the cruisers—it was so good, there were no leftovers!

This is the ninth year that the Olsen’s have hosted the Tractor Cruise, and collectively have raised more than $25,000 in support of the AS community over the years! The Olsen’s are looking forward to the 10th anniversary Tractor Cruise next year during Labor Day weekend, which will also kick-off at Everest Middle School in Everest, Kansas.

Many thanks to the Olsen’s and their friends, family and supporters for their incredible support of our loved ones with AS!

Click here for more photos of the 2014 Tractor Cruise—it was a fun time had by all!

09 Jan

AS research at Baylor University Seeking Viable Treatment Makes Significant Progress

The Angelman Syndrome Foundation and the lab of Arthur Beaudet, M.D., at Baylor University are inspired and excited to announce that progress is being made in analyzing a possible avenue of treatment for Angelman syndrome.

The research, funded by the Angelman Syndrome Foundation in the organization’s 2011 and 2013 research grant cycles, seeks to find a possible treatment for Angelman syndrome by activating the paternal copy of Ube3a in a mouse model.

Ongoing research and this latest discovery, published in December in PLOS Genetics, have demonstrated the feasibility of activating paternal Ube3a in mice by terminating the transcription of its antisense RNA Ube3a-ATS genetically.  In doing this in the AS mouse model, the research team observed restoration of Ube3a expression, improvement of behavioral defects, and reversal of the impaired long-term potentiation.  The research team further studied the imprinting mechanisms of Ube3a and proposed a novel transcriptional collision model.  These results provide evidence for a key regulatory role of Ube3a-ATS in Angelman syndrome, opening up an exciting possibility of a gene-specific treatment for Angelman syndrome.

“We at Angelman Syndrome Foundation are optimistic about the future of this research, as our ultimate goal is finding viable treatments and a cure for our loved ones with Angelman syndrome,” said Eileen Braun, executive director of the Angelman Syndrome Foundation.  “Our Scientific Advisory Committee goes through a rigorous process in evaluating research projects for potential grants, and we are all thrilled with the results coming from the Beaudet lab.  We are incredibly appreciative of the Baylor team’s dedication to creating a better future for individuals with Angelman syndrome.”

For more information about the research or the Angelman Syndrome Foundation’s 2013 research grants, please click here.

28 Aug

University of North Carolina-Chapel Hill Research Overview and Frequently Asked Questions

The Angelman Syndrome Foundation previously supported breakthrough research showing that topoisomerase inhibitors—specifically, topotecan, an FDA-approved drug used in cancer treatments—activates the paternal allele of Ube3a, identifying a possible treatment for Angelman syndrome. The continuation of that research at the University of North Carolina-Chapel Hill has extended the possibility of using topoisomerase inhibitors to treat individuals with Angelman syndrome, and has also identified possible side effects of these drugs on the developing brain. This research is the first to show that topoisomerase inhibitors unsilence Ube3a both in a mouse model and, because of collaborative work with Dr. Stormy Chamberlain at the University of Connecticut, in stem cell-derived neurons from an individual with Angelman syndrome (deletion positive). This study thus demonstrates how Ube3a can be reactivated in patient-derived neurons. The researchers also found that in the process of activating the paternal copy of Ube3a, topotecan reduced the levels of other genes that are linked to autism, which has the potential to result in characteristics of autism in individuals. This research suggests there may be trade-offs in using these drugs to unsilence Ube3a in individuals with Angelman syndrome, and could provide insights into why mutations in topoisomerases are linked to autism. This research also highlights the continued importance of defining a critical treatment window for topoisomerase inhibitors, to determine when these drugs have their best chance of being effective while minimizing side effects on the developing brain. Most importantly, this study highlights the importance of supporting rigorous preclinical research on topoisomerase inhibitors, or any other drugs, prior to advancing into clinical trials for individuals with Angelman syndrome. Access the abstract published in Nature,

Frequently Asked Questions

1. What is Angelman syndrome’s correlation to autism and how are they linked already?

  • While some doctors, scientists and researchers do and some do not consider Angelman syndrome to be an Autism Spectrum Disorder (ASD), all can agree that there is, to a certain extent, a connection between the two. What is known so far is that:
    • Not enough or improper function of the Ube3a gene = Angelman syndrome
    • Too much functionality of the Ube3a gene = ASD
  • A few developmental and behavioral characteristics do overlap between Angelman syndrome and ASD, yet the main behavioral differentiator is that individuals with Angelman syndrome do not feel the extreme aversion to social situations as do individuals with ASD.
  • Individuals with Angelman syndrome are able to read facial expressions, body language and vocal intonations extremely well, and as a result, they enjoy and seek out social interaction.

2. How are topoisomerase inhibitors linked to autism?

  • Topoisomerase inhibitors activate the paternal copy of the Ube3a gene but in doing so, they also reduce the levels of other genes linked to autism. It is currently unknown if this could result in characteristics of autism in individuals. With proper timing, it may be possible to activate Ube3a while minimizing side effects associated with reducing the levels of genes linked to autism.
  • The effects on autism genes were only present for as long as the topoisomerase inhibitors were present; once the drug wore-off, gene expression returned to baseline levels. However, it is important to note that mutations in topoisomerases have surfaced in some individuals with autism, suggesting that an alteration in the activity of these enzymes increases the risk for autism. This further suggests it may be possible to time drug administration to minimize side effects during critical periods of brain development.

3. Why is the Angelman Syndrome Foundation funding this research?

  • The Angelman Syndrome Foundation was the first to fund this pioneering research at UNC in 2009. This research identified 16 different topoisomerase inhibitors that could unsilence paternal Ube3a, making these the first potential treatments for Angelman syndrome. This was also the first research to show that the paternal Ube3a could be unsilenced, paving the way for all future efforts to reactivate this gene that is linked to Angelman syndrome.
  • As the research study continued to progress and illustrate promising results, UNC applied for funding to continue the research, and the Angelman Syndrome Foundation awarded a research grant for its continuation (in addition to other organizations providing funding as well).
  • The Angelman Syndrome Foundation will continue to fund this research as part of its 2013 research grant cycle to determine the treatment window and autism-related side affects of topoisomerase inhibitors as a potential treatment for Angelman syndrome.

4. How could this research impact my individual who has Angelman syndrome, or for my individual who has a dual diagnosis of Angelman syndrome and autism?

  • Currently, topoisomerase inhibitors, while having shown potential, are not currently used to treat individuals with Angelman syndrome. As with any new or repurposed drug, extensive preclinical and clinical work must be done to establish safety and efficacy.
  • This research is still in pre-clinical phase and more work is being done before it has the potential to move to a clinical trial.

5. What are the next steps?

  • The research team is currently identifying the potential critical window for treatment, and what factors are involved within that critical window: identifying when topoisomerase inhibitors have their best chance of being effective, and if and when topoisomerase inhibition increases susceptibility to autism.

6. If we don’t get a “cure” from this research, then what are we getting from this research?

  • This research provides the first evidence that a drug can be used to turn on the paternal copy of Ube3a. Restoring Ube3a levels represents a critical path towards any cure or treatment for Angelman syndrome. Prior to this research, most would have thought it impossible to reactivate a silenced gene. Angelman Syndrome Foundation-funded research has shown that the impossible can be done, by supporting rigorous science and scientists who are truly committed to helping individuals with Angelman syndrome.
  • This research has spurred many other investigators to identify additional drugs that reactivate Ube3a, including promising work with antisense oligonucleotides that specifically target the antisense transcript that topoisomerase inhibitors regulate. As with topoisomerase inhibitors, there will likely be the need for numerous studies that define the optimal treatment window to ensure the drugs reach their intended target in the brain.
  • This research is beneficial to the overall Angelman syndrome community because it has identified possible side effects from using topoisomerase as a potential treatment for Angelman syndrome before this moves to clinical trial.

7. How much did the Angelman Syndrome Foundation fund for this endeavor, and how much will the organization continue to fund?

  • The Angelman Syndrome Foundation originally funded $199,972 for the initial research project in 2009.
  • UNC applied for continued funding for this project in 2011 and received $510,000 collectively in funding from the ASF’s 2011 Research Grants. These funds were awarded in two two-year grants of $200,000 each to Dr. Mark Zylka and Dr. Ben Philpot, with an additional $110,000 awarded to Dr. Ian King as part of the Angelman Syndrome Foundation’s Joseph E. Wagstaff Postdoctoral Fellowship.
  • UNC applied again in 2013 to continue this promising research, and the Angelman Syndrome Foundation continued to fund this research as part of its 2013 research grant cycle to determine the treatment window and the possible side affects of using topoisomerase inhibitors as a potential treatment for AS. These funds were awarded in two two-year grants of $200,000 each to Dr. Mark Zylka and Dr. Ben Philpot, with an additional $110,000 awarded to Dr. Angela Mabb as part of the Angelman Syndrome Foundation’s Joseph E. Wagstaff Postdoctoral Fellowship.
  • If UNC decides to apply for the ASF’s 2014 research grants for additional funds for this or other AS-related research, the ASF would evaluate that research proposal at that time.

This study is one of several ASF research initiatives that investigate potential treatments for AS. In addition to exploring topoisomerase inhibitors, the ASF is currently funding research that studies the ability of antisense to awaken the paternal Ube3a gene and the optimal time to administer treatment.

18 Jun

Angelman Syndrome Foundation Invests $1.25 Million in Research

The Angelman Syndrome Foundation (ASF) announced today that because of the generosity of its supporters the organization has awarded $1.25 million to six research grants focused on finding treatments and defining the optimal window for treatment for individuals with Angelman syndrome, a neurodevelopmental disorder which can be similar to autism.  ASF leadership approved $250,000 more than the original $1 million call for research proposals earlier this year due to the nature of the research studies and their potential impact on all ongoing Angelman syndrome, autism and other developmental disorder-related research.

“Angelman syndrome research continues to edge closer and closer to potential life-changing treatments and opportunities for individuals with Angelman syndrome, and it is because of the tremendous support of our community that the ASF is able to invest in these important research endeavors that are quintessential to the success of all future AS preclinical and clinical trials,” said Tim McCarty, president of the ASF board of directors.  “The ASF’s Scientific Advisory Committee and leadership team have evaluated these research projects thoroughly and are confident in the direction they advance Angelman syndrome research, while also furthering the advancement of related neurodevelopmental disorders including autism.  Families, friends, loved ones and others close to individuals with Angelman syndrome who have supported the ASF during our National Walk and other times of the year have made this research investment possible.”

In evaluating this year’s research proposals, the ASF Board of Directors and Scientific Advisory Committee focused on proposals that sought to discover new therapeutics for Angelman syndrome or to better understand the scientific complexities of Angelman syndrome.  This year’s Angelman syndrome research grants are significant as they seek to further define the optimal age at which to administer treatment, or the treatment window, and they further test an already FDA-approved drug as being a viable overall treatment for Angelman syndrome.

The breadth and depth of ongoing Angelman syndrome research, which is leading closer towards a cure, makes available the opportunity for this year’s funded research projects to also further the understanding of varying UBE3A gene mutations and deletions, the causative gene in Angelman syndrome.  Additionally, this year’s funded research seeks to further understand learning and memory deficits in individuals with Angelman syndrome and how they impact individuals genetically and behaviorally.

“Not all individuals with Angelman syndrome have the same genetic blueprint that causes the symptoms of Angelman syndrome, which is also why our leadership team believed that each of these research projects is important,” said Eileen Braun, executive director of the ASF.  “We want to more fully understand and be able to treat what is causing the symptoms of Angelman syndrome in each individual and help improve his or her quality of life.  The strides that research in recent years has made sets an excellent stage to build upon and we are optimistic about the direction of this year’s funded research and the further building blocks it will create.”

Research grants were awarded to:

  • Ben Philpot, Ph.D. of University of North Carolina–Chapel Hill, and Ype Elgersma, Ph.D. of Erasmus Medical Center, Rotterdam, Netherlands
  • Arthur Beaudet, M.D. and Linyan Meng, Ph.D. of Baylor College of Medicine, Houston, Texas
  • John Lisman, Ph.D. of Brandeis University, Boston, Mass.
  • Jason Shepherd, Ph.D. of University of Utah, Salt Lake City, UT
  • Craig Erickson, M.D., of Cincinnati Children’s Hospital Medical Center
  • Mark Zylka, Ph.D. of University of North Carolina–Chapel Hill

ABOUT THE ANGELMAN SYNDROME FOUNDATION

The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties.  As the largest non-governmental funder of Angelman syndrome research, the ASF sponsors Angelman syndrome research through grants to researchers pursuing promising avenues of discovery.  Since 1996, the ASF has funded 72 research grants totaling more than $5.8 million.  The ASF has awarded a majority of these funds ($5.5 million) beginning in 2005.

02 May

Drug compounds continue to show promise in activating Ube3a in Angelman syndrome mouse model

Dr. Benjamin Philpot’s lab at the University of North Carolina Chapel Hill continues to make headway in identifying drug compounds that may lead to a viable treatment for Angelman syndrome.  As announced on Monday, April 29th from the Simons Foundation Autism Research Initiative, this research has found 30 drug compounds that activate the paternal copy of Ube3a in an Angelman syndrome mouse model.  This research is ongoing, and was launched by an ASF-funded research grant to Philpot’s lab in 2011 that resulted in the initial research breakthrough that topoisomerase inhibitors may provide a viable treatment for Angelman syndrome.

You may read more about this latest research update on SFARI’s website by clicking here.  You may also read more about the 2011 research breakthrough by clicking here.

08 Mar

Angelman Syndrome Foundation-Funded Research Identifies Miscommunication of Neurons, New Drug Compound that May Lead to Treatments

The Angelman Syndrome Foundation (ASF) announced today that ASF-funded research has uncovered in more depth how Angelman syndrome, a neurodevelopmental disorder similar to autism, affects specific neurological processes that may be needed for memory and learning.  The research, which is being conducted through a scientific collaboration centered at Brown University in Providence, R.I., has also discovered how an existing drug compound may help restore these neurological processes affected by Angelman syndrome.

“I think we are really beginning to understand what is going wrong.  That’s what is very exciting,” said John Marshall, professor of medical science in the Department of Molecular Pharmacology, Physiology, and Biotechnology, and the senior author of this research study that was published in the journal PLoS Biology in January 2012.  “I am immensely indebted to the ASF for their research funding, as this study would not have been possible without their support.”

The greater understanding of neuronal communication that was revealed with this research project has positive implications for other Angelman syndrome research projects being conducted among other groups, just as other similar research projects assisted this research team in reaching their discovery.

“We at the ASF are inspired by the results of this research collaboration, and we look forward to seeing how it continues to develop and shed further light on the neuronal complexities of Angelman syndrome,” said Tim McCarty, president of the ASF board of directors.  “Our goal with all research that we fund is to support initiatives that examine different areas of Angelman syndrome to help broaden the understanding of exactly how Angelman syndrome can be treated.  It is broad, multiple-institution support that we believe will help move research faster and closer to a cure.”

Using an Angelman syndrome mouse model, the research team uncovered a signaling breakdown in Angelman syndrome that provides greater clarification about this specific neuronal function of the brain.  There are biochemical pathways stimulated in the typically developing brain, which are an important growth factor in learning processes, that are not fully activated in individuals with Angelman syndrome.  The research team believes this is what causes specific, yet undetermined, defects in neuronal communication in the Angelman syndrome brain.

The research team also uncovered how an existing drug compound called CN2097, which is believed to also protect neurons under conditions of stroke and in disease states such as multiple sclerosis, can help in correcting the signaling defects in Angelman syndrome.  CN2097 is a compound that is unlikely to be used in patients because it breaks down easily within a few hours, meaning that its beneficiary affects may not be long lasting.  However, the research team believes it may be possible to alter the chemistry of CN2097 to make it, or some form of it, useful as a treatment.

Read more about this research discovery from Brown University.  See more information about ASF-funded research.

ABOUT THE ANGELMAN SYNDROME FOUNDATION

The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties.  The ASF sponsors Angelman syndrome research through grants to researchers pursuing promising avenues of discovery.  Since 1996, the ASF has funded 68 research grants totaling more than $4.8 million.  The ASF has awarded a majority of these funds ($4.3 million) beginning in 2005.

04 Feb

International Angelman Day – 15 Ways to Celebrate on February 15th

The Angelman Syndrome Foundation is excited to celebrate the first ever – International Angelman Day on February 15th.

To help raise awareness for Angelman syndrome across the world and in your hometown, the ASF has developed a list of 15 simple things you can do to contribute.
With your help, we can all give them a reason to smile.

  1. Contact a pediatrician in your area and make them aware of AS by sending them a link to the Facts About Angleman Syndrome page and FindtheAngels.org.
  2. Participate in an Angelman syndrome research study.
  3. Register for the ASF Walk and then email your friends to sign up and walk with you, making sure to attach the .pdf of the Facts About AS  to give them more information about AS.
  4. Ask to present to your child’s school on Friday, February 15—International Angelman Day—to talk about AS.
  5. Send a personal letter about Angelman syndrome and International Awareness Day to the editor of your local newspaper. You can request a sample letter from ASF by sending an email to info@angelman.org.
  6. Submit your child’s goals and objectives to the ASF Individual Education Plan (IEP) Bank and help other AS families across the globe plan a more meaningful IEP for their student with AS.
  7. Contact the therapists, teachers and support workers in your network and tell them about the Series on Angelman Syndrome Behaviors, and how this information can help your child/student with AS.
  8. Ask your friends to donate to your personal fundraising page for the ASF Walk.
  9. Show your appreciation for ASF-funded researchers by sending a thank you note.
  10. Send a Valentine to school, work or church filled with Angelman syndrome facts. You can check out our Pinterest board for ideas.
  11. Download the Facts About Angelman Syndrome handout and distribute to individuals who don’t already know about AS, or who ask about your child or AS.
  12. Submit a photo from a past ASF event for our Throwback Thursday feature on the ASF Facebook page by emailing us at webmaster@angelman.org.
  13. Purchase one of the items available in the ASF store to help promote Angelman syndrome awareness.
  14. Download the 2013 conference budget planner and start planning to attend the 2013 Biennial Conference in Orlando, FL on July 23 – 26, 2013.
  15. Share FindtheAngels.org with all of your friends and family.
12 Dec

Drug Discovery Expert Takes New Leadership Role in Determining Research Focus of the Angelman Syndrome Foundation

Angelman Syndrome Foundation selects renowned researcher to lead its Scientific Advisory Committee’s pursuit of research endeavors that improve quality of life for individuals with Angelman syndrome

The Angelman Syndrome Foundation (ASF) announced today that drug discovery expert and Dart NeuroScience Chief Operating Officer Daniel Harvey, Ph.D., has been selected to serve on the ASF board of directors and chair the ASF Scientific Advisory Committee (SAC).  The SAC determines the ASF’s research focus and projects that it will fund to drive breakthroughs in advancing the understanding and treatment of Angelman syndrome, a neurogenetic disorder similar to autism that occurs in one in 15,000 live births.

In his role as the SAC chairperson, Harvey will lead a 15-person committee comprised of academic and industry researchers and clinicians and experts in psychology, communications and education that evaluate research proposals submitted to the ASF for funding. In addition to reviewing research that seeks to improve treatments and find a cure for Angelman syndrome, the SAC plays a major role in the ASF’s annual scientific symposium, facilitating connections with researchers and promoting research initiatives. On the ASF’s board of directors, Harvey joins 11 other members, many of whom are parents of individuals with Angelman syndrome.

“With more than 20 years of experience in drug discovery research and organic chemistry, Dan Harvey will lead the SAC in continuing to implement a roadmap that effectively guides the ASF’s funding of proposed research initiatives toward therapies and a cure for Angelman syndrome,” said Tim McCarty, president of the ASF board of directors. “We are again thrilled with Dan Harvey’s contribution of time and expertise to the ASF, which will have positive implications for the entire Angelman syndrome community.”

Harvey has been involved with the ASF since his son was diagnosed with Angelman syndrome in 1996. From 1997 to 2001, he was a member of the ASF board of directors, served as vice president from 1997 to 1999, and chaired the SAC from 1999 to 2003.

“As a parent of an individual with Angelman syndrome, I have seen and experienced how ASF-funded research has changed lives and provided immense hope for individuals with Angelman syndrome and their families,” said Daniel Harvey, Ph.D. “I am honored to contribute to this incredible group of individuals on the SAC whose efforts in recent years, under the leadership of Dr. Charles Williams, have helped the ASF achieve remarkable milestones in advancing the understanding and treatment of Angelman syndrome. We are in an entirely new era for funding and research.”

Dr. Charles Williams, who is currently an ASF director, the immediate past SAC chair and a professor of pediatrics and medical genetics at the University of Florida, is a founding member of the ASF. Since ASF’s formation in 1992, he has served in several leadership roles. Williams chaired the SAC from its inception in 1994 until 1999 and again from 2008 to 2012, a time when many ASF-funded projects led to breakthroughs in Angelman syndrome research.

“Several ASF-funded research projects have led to pioneering discoveries about Angelman syndrome that have positively impacted the entire Angelman community including the ability to un-silence the UBE3A gene in mice with Angelman syndrome, uncovering the possible root cause of seizures in individuals with Angelman syndrome, and a low-glycemic index therapy to reduce seizures, a potentially life-threatening symptom that occurs in 90 percent of individuals with Angelman syndrome,” said Williams. “This is a remarkable time in Angelman syndrome research and I look forward to continuing my involvement in the ASF by serving both as a board member and as a member of the SAC.”

Since its formation in 1992, the ASF has funded a diverse set of 66 research projects at more than 37 research institutions. The ASF has awarded $4.6 million in research grants, $4.3 million of which have been granted since 2005.

ABOUT THE ANGELMAN SYNDROME FOUNDATION
The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties.  The ASF sponsors Angelman syndrome research through grants to researchers pursuing promising avenues of discovery.  Since 1996, the ASF has funded 66 research grants totaling more than $4.6 million.  The ASF has awarded a majority of these funds ($4.3 million) beginning in 2005.

22 Oct

Second Angelman Syndrome Clinic Opens at Massachusetts General Hospital

Comprehensive Support for Individuals with Angelman syndrome from Infancy through Adulthood

BOSTON, October 23, 2012 – Massachusetts General Hospital (MGH), MassGeneral Hospital for Children and the Angelman Syndrome Foundation (ASF) announced today the opening of the Angelman Syndrome Clinic, one of only two in the country.  The facility—made possible through a partnership between MGH and MassGeneral Hospital for Children and the ASF—is focused on serving the comprehensive medical needs of individuals with Angelman syndrome.  With the creation of the clinic, individuals with Angelman syndrome and their families can access multiple subspecialists and a variety of medical resources in one setting, as opposed to visiting multiple locations across the nation.  The Angelman Syndrome Clinic is unique as it can leverage the variety of expertise and specialized care available at MGH to help individuals with Angelman syndrome from infancy through adulthood.

“Individuals with Angelman syndrome have extreme challenges obtaining the care they need as they grow into adults.  MGH is uniquely positioned to provide services to this portion of the population and their families,” said Dr. Ron Thibert, DO, MsPH, and co-director of the Angelman Syndrome Clinic at MassGeneral.  “Our partnership with the ASF has allowed us to further meet these needs and provide the comprehensive medical services that improve patient and families’ quality of life.”

Occurring in one in 15,000 live births, Angelman syndrome is a congenital disorder often associated with autism that causes severe neurological impairment that appears in newborns and lasts for a lifetime.  During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning improperly and causing deficits in development.  Individuals with Angelman syndrome experience developmental delay, lack of speech, seizures, walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.

The purpose of the Angelman Syndrome Clinic is to reduce the frequency and severity of Angelman syndrome symptoms, particularly seizures, and to develop dietary regimens for individuals that further assist in the reduction of symptoms.  Furthermore, the clinic has the unique ability to enhance education and learning for individuals with Angelman syndrome, thus helping them achieve their full developmental potential.  With the ultimate goal of improving quality of life for individuals with Angelman syndrome, the clinic provides “one-stop-shop” access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker, and nutritionist all specializing in Angelman syndrome.

“Partnerships, such as the one we are announcing with MGH, enable the Angelman Syndrome Foundation to provide direct support and access to resources that individuals with Angelman syndrome and their families need,” said Tim McCarty, president of the ASF’s board of directors.  “The MGH staff care deeply about helping improve quality of life for individuals with Angelman syndrome and it is through research spearheaded by MGH that several advancements have been made in helping enhance quality of life for those with Angelman syndrome and their families.”

Earlier this year, Dr. Thibert announced that a low-glycemic index treatment (LGIT) for individuals with Angelman syndrome has proven successful in significantly reducing seizures by up to 90 percent in most individuals on the diet.  Often a life-threatening symptom, this dietary treatment is relatively easy to implement and interferes little, if at all, with other treatments prescribed for other symptoms.  The LGIT study was funded in part by the ASF.

The Angelman Syndrome Clinic is located at MGH’s main campus at 55 Fruit St., Boston, Mass. 02114.  Elias Shaaya is the clinic coordinator and can be reached by contacting patient services coordinator Veronica Robinson at 617-726-6540.

For more information about MGH, please visit www.massgeneral.org.

ABOUT MASSACHUSETTS GENERAL HOSPITAL
Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $750 million and major research centers in AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine. In July 2012, MGH moved into the number one spot on the 2012-13 U.S. News & World Report list of “America’s Best Hospitals.”

03 Aug

Dietary Treatment Proven Successful in Reducing Seizures in Angelman Syndrome by up to 90 Percent

The Angelman Syndrome Foundation (ASF) is very excited to announce today that clinical research published in Epilepsia on July 10 has found that a low glycemic index treatment (LGIT) is successful in reducing seizures in individuals with Angelman syndrome. Seizures are a potentially life-threatening symptom that 90 percent of individuals with Angelman syndrome experience and are very difficult to treat. The research, which was funded by the ASF, has widespread, positive implications for the Angelman syndrome community because of the relatively low risk and ease of implementing this type of dietary treatment regimen, particularly compared to other more stringent dietary treatments.

“The purpose of our research was to assess the effectiveness of the LGIT’s high-fat, low-carb diet for the treatment of seizures in pediatric patients with Angelman syndrome, and the research was even more successful than we had anticipated,” said Dr. Ron Thibert, D.O., neurologist and pediatrician at Massachusetts General Hospital, and leader of the group that embarked on this clinical research study. “This was the first study assessing LGIT for this use in this population and the results are very exciting, particularly because the similar ketogenic diet is very strict and difficult to maintain on a daily schedule, and while it can provide similar results, it can also create additional side effects. We are thrilled that the LGIT can provide even more hope for families of individuals with Angelman syndrome.”

The LGIT is a high-fat, limited-carbohydrate diet that was administered to six children with Angelman syndrome, ranging from one to five years of age, for a period of four months. All participants experienced a decrease in seizure frequency, with five of the six exhibiting a more than 80-percent reduction, and all experienced no significant adverse effects. Five of the six participants remained on the LGIT after completion of the trial, and after one year, experienced a 90-percent reduction. A neurologist and dietician conducted clinical examinations before and during the trial, which also included electroencephalography (EEG) and neuropsychological assessments. These assessments also indicated improvement, or a decrease, in seizure activity.

“In addition to seizure reduction, parents also noted developmental gains, and although these gains were not statistically significant on neuropsychological assessment, it illustrates the effectiveness of this treatment and may indicate its compatibility with treatments for other symptoms or effects of Angelman syndrome,” said Thibert. “Furthermore, the results indicate a potentially higher degree of effectiveness for LGIT for the Angelman syndrome population than that observed in the general epilepsy population.”

The staples of the LGIT diet are meats and cheeses, which provide a higher fat intake and lower carbohydrate intake, as well as select fruits and vegetables. The purpose of the diet is to reduce the total carbohydrate intake and consume carbohydrates that have less sugar, which ultimately helps keep patients’ insulin levels stable and low. The LGIT does not require special preparation of the foods used.

“We are thrilled with the results of this clinical study, as our ultimate goal is to fund research that seeks to improve the quality of life of individuals with Angelman syndrome,” said Eileen Braun, executive director of the ASF. “Families who are interested in learning more about this study are welcome to contact our office, and we will put them in touch with the appropriate resources to further explore this possible treatment.”

The LGIT clinical research study was conducted by Ronald L. Thibert, Heidi H. Pfeifer, Anna M. Larson, Annabel R. Raby, Ashley A. Reynolds, Amy K. Morgan and Elizabeth A. Thiele at the Department of Neurology, Pediatric Epilepsy Program at Massachusetts General Hospital.

For more information about this research study, please contact the ASF at info@angelman.org or 800-432-6435, or contact Massachusetts General Hospital’s Pediatric Epilepsy Program.