uniQure Announces FDA Clearance of Investigational New Drug Application for AMT-130 in Huntington’s Disease

uniQure Announces FDA Clearance of Investigational New Drug Application for AMT-130 in Huntington’s Disease

~ AMT-130 Poised to Become First AAV Gene Therapy to Enter the Clinic for Huntington’s Disease ~

~ Lead Product Candidate from Company’s Proprietary miQURE™ Gene Silencing Platform   ~

LEXINGTON, Mass. and AMSTERDAM, the Netherlands, Jan. 22, 2019 — uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced the U.S. Food and Drug Administration (FDA) has completed its review of the Company’s Investigational New Drug (IND) application for AMT-130, and the IND is now effective, allowing uniQure to begin its planned Phase I/II study. AMT-130 comprises a recombinant AAV5 vector carrying a DNA cassette encoding a microRNA that non-selectively lowers or knocks-down human huntingtin protein in Huntington’s disease patients.

“The FDA’s clearance of our IND for AMT-130 is a significant milestone for Huntington’s disease patients and an important event in the field of gene therapy,” said Matt Kapusta, chief executive officer at uniQure. “We expect that AMT-130 will be the first one-time administered AAV gene therapy to enter clinical testing for the treatment of Huntington’s disease, a devastating neurodegenerative disorder for which there is no approved disease-modifying treatment.

“AMT-130 also represents the first clinical-stage AAV-based therapy specifically designed to silence an abnormal gene in the brain with a single administration, and we believe our proprietary miQURE™ gene silencing platform has the potential to be applied to many other diseases, such as spinocerebellar ataxia type 3 (SCA3),” continued Mr. Kapusta. “This achievement is a major milestone for uniQure’s research organization, who have dedicated years of effort with the hope we can one day offer treatment for the many patients waiting generations for an effective therapy.”

FDA clearance of the IND enables uniQure to initiate its planned dose-escalating, randomized and controlled Phase I/II clinical trial to assess the safety, tolerability and efficacy of a one-time treatment of AMT-130 in patients with Huntington’s disease. uniQure expects to open several clinical sites in the United States and begin dosing patients in the second half of this year.  

About Huntington’s Disease
Huntington’s disease is a rare, inherited neurodegenerative disorder that leads to loss of muscle coordination, behavioral abnormalities and cognitive decline, resulting in complete physical and mental deterioration. The disease is caused by an autosomal dominant mutation, CAG repeat expansion in the first exon of the huntingtin gene, that leads to the production of a mutated protein that aggregates in the brain. Despite the clear etiology of HD, there are no therapies available to treat the disease, delay onset, or slow progression of a patient’s decline.

About uniQure
uniQure is delivering on the promise of gene therapy – single treatments with potentially curative results. We are leveraging our modular and validated technology platform to rapidly advance a pipeline of proprietary and partnered gene therapies to treat patients with hemophilia, Huntington’s disease and other severe genetic diseases. www.uniQure.com

uniQure Forward-Looking Statements

This press release contains forward-looking statements. All statements other than statements of historical fact are forward-looking statements, which are often indicated by terms such as “anticipate,” “believe,” “could,” “estimate,” “expect,” “goal,” “intend,” “look forward to”, “may,” “plan,” “potential,” “predict,” “project,” “should,” “will,” “would” and similar expressions. Forward-looking statements are based on management’s beliefs and assumptions and on information available to management only as of the date of this press release. These forward-looking statements include, but are not limited to, the achievement of any of our planned near term or other milestones, our ability to become the first AAV Gene therapy for Huntington’s Disease to begin clinical trials, our ability to initiate our planned dose-escalating, randomized and controlled Phase I/II clinical trial, our ability to open several clinical sites in the United States and begin enrolling patients in the second half of this year or ever, the development of our gene therapy product candidates, the ability to achieve therapeutic or curative effects in human patients in any of our product candidates, whether our proprietary miQURE™ gene silencing platform can be applied to any other diseases, such as spinocerebellar ataxia type 3 (SCA3), the ability to produce a product candidate that is safe and effective, the ability to obtain regulatory approval for any of our product candidates, and the risk of cessation, delay or lack of success of any of our ongoing or planned clinical studies and/or development of our product candidates. Our actual results could differ materially from those anticipated in these forward-looking statements for many reasons, including, without limitation, risks associated with our and our collaboration activities, product development activities, corporate reorganizations and strategic shifts, regulatory oversight, product commercialization and intellectual property claims, as well as the risks, uncertainties and other factors described under the heading “Risk Factors” in uniQure’s Annual Report on Form 10-K filed on March 14, 2018 and Quarterly Report on Form 10-Q filed on November 6, 2018. Given these risks, uncertainties and other factors, you should not place undue reliance on these forward-looking statements, and we assume no obligation to update these forward-looking statements, even if new information becomes available in the future.

uniQure Contacts:

Maria E. Cantor   Eva M. Mulder   Tom Malone
Direct: 339-970-7536   Direct: +31 20 240 6103   Direct: 339-970-7558
Mobile:  617-680-9452   Mobile: +31 6 52 33 15 79    Mobile:339-223-8541
m.cantor@uniQure.com    e.mulder@uniQure.com    t.malone@uniQure.com
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Bioethics in Huntington’s Disease Treatments and Therapies

Katie Jackson is a strong advocate for the Huntington’s and Juvenile Huntington’s disease community and is president/CEO of Help 4 HD International, which has been on the forefront of the struggle to increase HD awareness and generate funds to combat Juvenile HD. In one of her weekly blog radio broadcasts, she hosted Dr. Mark Yarborough on the topic “Bioethics” and discussed the roles bioethics plays in developing treatments and therapies for Huntington’s and Juvenile Huntington’s disease. Dr. Yarborough is a professor of philosophy and dean’s professor of bioethics at the University of California, Davis. He has published several scholarly publications and lectured numerous professional and public organizations on bioethics.


Bioethics is the study of the ethical issues emerging from advances in biology and medicine. It is also moral discernment as it relates to medical policy and practice. Bioethics is basically divided into two areas:

  • Healthcare ethics
  • Research ethics

There are regulatory bodies that monitor and control ethical issues that might arise in each of these areas. For clinical environments, such as hospitals, there are Hospital Ethics Committees and Institutional Review Boards (IRBs) that review and make decisions about clinical research. IRBs appear not only in academic but also in commercial sectors. This is compulsory for any organization that receives federal funding for research on human subjects, and it also a prerequisite for organizations to gain approval by the FDA (Food and Drug Administration) of an application for any investigational new drug. This means that all clinical research, including that for Huntington’s disease (HD), in the United States goes through an IRB review process.

Huntington’s disease occurs when a DNA sequence at the end of the huntingtin gene repeats too many times. The mutant gene then produces a toxic protein that damages neurons. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the faulty gene. Today, there are approximately 30,000+ symptomatic Americans and more than 200,000 at risk of inheriting the disease.

Though the cure for Huntington’s disease is yet to be discovered, there has been research into a gene editing system, “CRISPR-Cas9,” which has generated excitement in scientific circles for its potential to cure diseases caused by a single defective gene, including HD. But editing genes with this technology is risky because cutting strands of DNA can lead to unintentional gene edits, causing dangerous off-target effects. Due to reasons such as this, regulatory bodies have been set up to monitor and control risks of ethicality involved in bioresearch.

The major roles of IRB in research oversight are (and are not limited to):

  • Ensure the safety of research participants. This is the minimization of risk that volunteers might undergo in the course of the research.
  • Ensure that the potential benefits of the research, to both participants and society, far outweigh any risks the research participants will undergo.
  • Ensure there is fully informed consent of the research participants.

IRBs ensure ethical application of science in the pursuit of a cure to various diseases for the maximum benefits of every stakeholder involved.

People, especially the families of victims suffering from diseases such as HD and Alzheimer’s, have considered the IRB review process to be slow in approving new methods and treatments, but as Dr. Yarborough stated, “The review process is a very formalized and bureaucratic process that involves investigators producing a very exhaustive application and an awful lot of paperwork that covers the background of the science, that answers the questions about the problem the clinical trial was designed to solve, and also information as to why it’s important to do this study, as well as the process for conveying that information.”

This has been the major drawback in the approval of novel medical developments, but there has been some ongoing conversation about improving the review process.

Juvenile Huntington’s disease (JHD) is a special case of Huntington disease which appears in persons below the age of 20. Most institutions have IRBs that specialize mainly in juvenile cases. Lots of questions have been raised by the JHD community about the restrictions placed on underage treatments and tests for children suffering from JHD. This is a case of whether it is right to place juveniles under undue risk for someone else’s benefit since children do not have the legal rights or intellect to make the decisions for themselves. There are also controversies and complications to consider in experimenting on children.

According to Dr. Yarborough, this concern can be bypassed or overcome by creating a community of patients and researchers on related diseases, thereby having its own oversight and regulations. This might not be possible, primarily due to legal reasons. Sacrifices will also have to be made on the part of the members of these communities to help move the field forward, which entails undergoing life-threatening risks.

Most IRB committees are not knowledgeable about all the different diseases that are being studied at any point in time, which is another limitation of the current system. It is not necessary for IRB members to know much about these diseases or to have scientific expertise on these diseases, let alone be familiar with the communities who are affected by the diseases under study. That’s why it’s very important, and even encouraged, according to Dr. Yarborough, for members of these disease communities to volunteer their services on IRBs which are spread across the country.

Dr. Yarborough concluded with these points:

  • Ethics is about making sure you’ve got the right people sitting around the table to deliberate about these really complicated questions.
  • Frequently, the case is that there are people who have power but lack foresight and people who have wisdom but have no access to power. The job of ethics is to try to get those people in the same room together at the same time. There’s an abundant amount of wisdom in the patient community that doesn’t necessarily spill over into the research community. Therefore, patient advocates must ensure they are not just a voice but also an equal voice at the table.
  • People must be willing to invest a lot of time and to build relationships and stick with processes. This may sound challenging at the outset, but it’s worth it.



Listen to the entire interview on BlogTalkRadio: http://www.blogtalkradio.com/help4hd/2018/03/07/bioethics-and-irbs-for-huntingtons-disease

A CRISPR cure for Huntington’s? Retrieved from https://www.fiercebiotech.com/research/a-crispr-cure-for-huntington’s

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Sacramento Symposium Brings Hope

Sacramento Symposium

Jimmy Pollard, Lorenza Estandia, Margaret D’Aiuto de Gallardo, Katie Jackson, Katrina Hamel, and Sharon Thomason enjoy networking at the Sacramento Symposium. Lorenza and Margaret traveled all the way from Mexico to attend!

Sacramento Symposium Brings Hope

By Sharon McClellan Thomason

“The symposium in Sacramento was the best HD [Huntington’s disease] gathering we have ever attended,” Bob Lohse wrote for his wife, Gail, who has HD. “We expected lunch sandwiches and sodas and were blown away with the spread. Your organization was a mix of progress, ‘fun,’ and Q/A with speakers available for questions during breaks. We thought Kyle [Fink] did a great job of explaining how all this gene/DNA stuff ties together for someone not a DNA engineer.”

Dr. Kyle Fink, from UC Davis, was one of seven keynote speakers who presented hope and understanding to attendees at Help 4 HD International’s third annual symposium on April 9, 2016, in Sacramento, California. In addition to speakers’ presentations, the symposium featured hands-on activities, a silent auction to raise money for JHD (Juvenile Huntington’s disease) research, and recognition of some very special people in the HD community.

Dr. Jan Nolta, “Bench to Bedside”

After opening remarks by Katie Jackson (president) and Katrina Hamel (vice president), Dr. Jan Nolta, Director of the UC Davis Stem Cell Program and Institute for Regenerative Cures, opened the day’s presentations with “Bench to Bedside,” a talk about PRE-CELL, her stem cell research that she hopes will produce a therapy for HD. PRE-CELL is funded by CIRM (California Institute of Regenerative Medicine), and Nolta’s team has applied for bridging funds for additional short-term studies that the FDA (Food and Drug Administration) has requested before approving human clinical trials.

Nolta’s lab is focusing on producing “paramedic” mesenchymal (MSC) stem cells that will deliver Brain Derived Neurotrophic Factor (BDNF) to the brain. BDNF is very low in people with HD, and so the paramedic cells, which are mature cells derived from healthy bone marrow donors, are engineered to deliver BDNF to the brain. The goal of the research, said Nolta, is to “slow down striatal degeneration and hopefully coax the new striatal neurons to replace those that are dying.” Nolta noted that in her research, they’ve been able to measure in the HD mice that receive BDNF a reduction in anxiety, a regeneration of striatal volume, and a 15 percent increase in lifespan.

In October, the FDA required that Nolta’s team try the therapy in pigs, so they are looking for additional funding to purchase the pigs and are hoping they will then be ready to move into HD-CELL, the human clinical trials later this year. According to Dr. Nolta’s website (www.jannolta.com), her team is seeking an industry partner to help take the MSC/BDNF platform to even more patients, outside of their planned initial Phase 1 clinical trial.

Jimmy Pollard, “You Are a Part of the Change”

Jimmy Pollard, a popular speaker for CHDI who lives in Lowell, Massachusetts, opened his morning presentation with the theme of “Families Keep Telling Their Stories.” His brief history of HD began in East Hampton, New York, where a young doctor named George Huntington saw families with this “curiosity” and continued to Oklahoma in 1888, where Nora Ball and Charly Guthrie had four kids, one of whom was famed singer-songwriter Woody Guthrie. Nora Guthrie developed HD, and Woody moved to Brooklyn, where he married dancer Marjorie. As Woody developed symptoms of HD, Marjorie began to tell her story. Doctors told her to find other families, so she put an ad in the newspaper, found other families who were living with HD, and founded CCHD, the Committee to Combat Huntington’s Disease, which is now known as HDSA, or Huntington’s Disease Society of America.

Pollard said, “Families told stories, organized, partnered up with doctors and researchers, and now we have pharmaceutical and biotech companies interested in HD.”

He noted that Marjorie always talked about the ripple effect of the pebble being tossed into the pond and said that’s what happened and continues to happen in the HD community because, “Families keep telling their stories.” Without those stories, he said, there would be no change. Equally important, according to Pollard, is that families continue to participate in clinical trials.

Participant Lisa Mooney said, “I loved Jimmy Pollard’s presentation. It was such a thoughtful addition to celebrate families moving science forward with participation in studies.”

Morning Panel: “Update on Clinical Trials and Studies in HD”

After a short break, a three-person panel presented updates on the progress of current clinical trials and studies. Dr. Ben Cadieux, Senior Director of Clinical Development at Raptor Pharmaceuticals; Dr. Victor Abler, neurologist and Global Medical Director of Teva Pharmaceuticals; and Dr. Peg Nopoulos, professor of psychiatry and pediatric neurology at the University of Iowa shared research and results with an audience that ranged from scientists and medical professionals to HD patients and their caregivers.

First up, Abler talked about three drugs that Teva currently has in the pipeline. The first clinical trial he spoke of is Pride-HD, a Phase 2 clinical study of pridopidine to see what effect it has on movement, thinking, and behavior, compared to placebo, in people with HD after 26 weeks of use, one tablet per day. Abler pointed out that it is not for chorea, but is for other physical motor symptoms. Researchers believe that the drug may have an effect on some of the symptoms of HD that depend on dopamine. He also spoke about the Legato-HD trial, which seeks to measure the effects of laquinimod, an immunomodulator that has already been in clinical trials for multiple sclerosis. Legato-HD is currently enrolling and is for people with little or no motor symptoms. The third study, SD-809, often referred to as “the next generation” of tetrabenazine, is currently waiting for FDA approval for the treatment of chorea. According to Teva’s website, SD-809, or deutetrabenazine, reduces dystonia as well as chorea and has fewer side effects than tetrabenazine.

Cadieux spoke about Raptor’s drug RP103, a cysteamine bitartrate that was approved for another disease (cystinosis), not HD, but is believed to be a potential drug therapy for HD. Cadieux explained that the drug has antioxidant properties and that HD mice improve motor symptoms and survive longer when placed on RP103. He said patients are currently enrolled in long-term trials in France. Using the total motor scale for HD to measure the effectiveness of the drug, those receiving early treatment do 25 percent better than those receiving later treatment, and completers who are on the drug for a total of 36 months do 35 percent better than non-completers. He said they are currently developing Phase 3, a multinational clinical trial in which they hope to include patients in the U.S., something that Huntington Study Group (HSG) is working on with the FDA. Raptor’s website says that, “The potential clinical benefit of RP103 in Huntington’s disease is reinforced by preclinical studies supporting three proposed mechanisms of action: 1) increased synthesis and mobilization of cysteine resulting in increased levels of glutathione and reduced oxidative stress, 2) inhibition of transglutaminase and induction of a heat shock protein (HSP) response, which assists in promoting proper protein folding and reduced proteolysis, and 3) enhanced gene transcription and increased expression and secretion of brain-derived neurotrophic factor (BDNF).”

Nopoulos, who is the director of Kids-HD and Kids-JHD studies at the University of Iowa, shared some of the goals and findings of her research. She said that brain development in humans continues through the age of 25, and in Kids-HD, they are trying to determine if there may be subtle signs of HD even in childhood. Thus far, research has shown that the higher the CAG repeat, the lower the striatum development, and so the cerebellum compensates by enlarging; however, with CAG repeats between 45 and 59, there are subtle symptoms in childhood because the cerebellum is not quite compensating. Nopoulos said that Htt (the Huntingtin gene) appears to be evolutionary because the more repeats, the better the brain development as evidenced by a higher IQ and a bigger brain. Nopoulos’s studies are funded by grants that pay all travel costs for the family of a child participating in either study, plus there is monetary compensation for the child. As a caveat, she added, “Kids have to want to do it and to understand about HD and that they’re at risk.”

Nopoulos noted that the DeNovo study has shown that a CAG repeat of 30+ is more unstable, particularly in males, and that in rare cases, their kids can develop HD.

Several attendees noted that it was good to hear about the programs at University of Iowa because they really didn’t know much about JHD research.

Dr. Vicki Wheelock, “Pre-Cell: The Path Forward and Findings Along the Way”

Wheelock, director of the UC Davis Center of Excellence, talked about Pre-Cell, an observational study at UC Davis that is managed by Terry Tempkin, ARNP. The trial to develop “the best therapy possible” began five years ago and studies adults at six-month intervals. Wheelock said 42 patients were screened, and 32 were admitted to the trial which includes a study of behavior and movement, brain imaging, and biomarkers.

Wheelock said the MRIs have shown slow, subtle changes, and the Unified HD Rating Scale has shown a slow progression in members of the trial. The trial also identifies problem behaviors, does an E-Cog rating, and measures quality of life. Spinal fluid that’s drawn is sent to Mass General for analysis and has shown plasma BDNF to be very low.

“We have developed measurement tools to be shared with the world,” said Wheelock. “Good science takes time.”

Dr. Kyle Fink, “Gene Therapy in JHD”

Fink, who is part of Nolta’s lab at UC Davis, explained his research that he hopes will lead to clinical trials for Juvenile Huntington’s disease. He’s working on gene modification or correction, targeting the DNA that is the root of the disease. His research with JHD mice has shown the CAG repeat to collapse down to approximately 16 CAG repeats and has produced mutant gene silencing.

Fink said his study is looking for the best way to deliver the therapy to the DNA. “Htt [the huntingin gene] is expressed throughout the body,” said Fink, “so where does it [the therapy] need to be delivered?”

They’re not sure yet what will happen if one area is treated and not another. Fink added, “Htt is critical for development, so the embryo won’t make it out of utero with a total absence of Htt.”

He said that JHD research may help scientists understand how other genes affect the development of the disease, but, he emphasized, “The bottom line is that we need funding to continue.”

Dr. Peg Nopoulos, “The Neuropsychiatric Disorder”

In addition to directing the Kids-HD and Kids-JHD studies at the University of Iowa, Nopoulos is a psychiatrist. She explained, with the use of slides, that the striatum (a part of the brain known to be affected by HD) is highly connected to the frontal lobe; thus, non-motor symptoms controlled by the frontal lobe often appear years before motor symptoms appear. She explained that while psychiatric and cognitive symptoms are the most disruptive for individuals and for families, they are also highly treatable.

Nopoulos pointed out that depressive symptoms decrease as the disease progresses, and are probably more situational than organic. According to Nopoulos, research has shown that major depressive syndrome has about the same prevalence in the HD population as in the non-HD population.

“The suicide rate,” said Nopoulos, “is higher right before (23.5 percent) and right after (21 percent) diagnosis.”

Nopoulos explained that the striatum helps control frontal lobe symptoms, so impairment of the striatum increases frontal symptoms. An increase in agitation and irritability are probably the most common and often contributes to the difficulty of getting placement into and retention in a care facility. Other problematic frontal lobe symptoms include impulsivity and disinhibition, a lack of insight and unawareness (anosognosia), and apathy.

“Apathy,” said Nopoulos, “is more common than depression and, unlike depression, progresses with the disease. The world becomes very small, and the person with HD becomes isolated.” Nopoulos pointed out that this is often more of an issue for the family than it is for the patient, urging that families and doctors ask the patient, “What is your quality of life?” If the patient is content with his/her quality of life, then the isolation is more of a problem for the family than for the patient.

Nopoulos also explained that the cerebellum is also very connected to the striatum and when affected causes increased chorea, difficulty with balance and swallowing, cognitive impairment, and an increase in psychiatric symptoms. Drugs that modulate the neurotransmitters change the brain chemistry: too much dopamine results in chorea, psychiatric symptoms, mainly agitation and irritability. Nopoulos pointed out that treatment of psychiatric symptoms is the same as treatment of psychiatric symptoms caused by other conditions, such as bipolar disorder and schizophrenia. She said the psychotherapy can be helpful in the early stages and encouraged consultation of The Physician’s Guide to the Management of Huntington’s Disease, published by HDSA.

Terry Tempkin, ARNP at UC Davis, Honored

An emotional tribute to Terry Tempkin, who is loved by many families who attend the clinic at UC Davis Center of Excellence, began with a video of colleagues saying their goodbyes as Tempkin prepares to retire. With barely a dry eye in the audience, Tempkin, who works with over 500 HD families, said, “It is about the families. It’s an extraordinary partnership.”

Judy Roberson, president of the Joseph P. Roberson Foundation, presented a certificate to Tempkin, noting that she is the ONLY privately funded ARNP. Roberson said Tempkin is “a visionary, energetic, has heart, and is compassionate.”

Tempkin, in accepting the award, said, “I can think of no higher calling than to come together to help other people.”

She noted that the clinic began with eight patients and today serves 500.

“I’m leaving UC Davis,” said Tempkin, “but I’m not leaving the HD community.” She challenged everyone to reach out to other parts of the world with far fewer resources.

Joseph P. Roberson Person of the Year Award

Judy Roberson began with Margaret Mead’s famous quote, “Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it’s the only thing that ever has.”

Roberson said that when her brother-in-law Joe was diagnosed, there was no one in northern California who knew anything about HD. He started the foundation and contacted Dr. Ira Shoulson, with HSG (Huntington Study Group). Shoulson told Joe he needed to find eight people for HSG to open a Huntington’s Clinic. At that time, there were only two in California. Joe found eight people, a clinic was opened at UC Davis, and Dr. Vicki Wheelock became the director. Now, the clinic cares for 500 people with HD. Terry Tempkin came up with the idea to honor one person each year, someone who showed courage and strength in their battle with HD.

Laura Gagnon, announced Roberson, was chosen as this year’s honoree. Gagnon, who lives in Woodland, California, and is a patient at UC Davis, is active in studies and trials and is the third person in her family to receive the award. She was a registered nurse for 40 years in maternity and lost her dad and brother to HD.

In surveys collected at the end of the symposium, one person answered the question, “What could be improved upon?” with this comment: “Nothing, except for a box of tissues on each table!”

Jimmy Pollard, “Hurry Up and Wait”

The afternoon closed with Jimmy Pollard teaching the audience what it feels like to live with HD, what it feels like to think with HD. Through hands-on activities and the use of volunteers, Pollard demonstrated what it’s like to experience slow thinking, the difference between recognition and recall, the difficulty trying to focus when there’s distraction, the difficulty in trying to plan, organize, and sequence, and the problem with impulsivity—“I can’t wait!”

As the audience tried to write their names ever-so-slowly, Pollard noted that fluency decreases, distractibility increases, and the “inner cheerleader” disappears. These things, he said, are the “seeds of misbehavior.”

In an exercise of trying to draw from memory the picture on the face of a penny, Pollard demonstrated the difference between recognition and recall. Recall, he pointed out, is a much more difficult task than recognition.

Through use of the Stroup Test (color names are printed in different colors; i.e., the word “red” might be printed in green, and the person must read the name rather than saying the color), Pollard demonstrated what happens when there’s cognitive interruption.

Finally, Pollard blindfolded a volunteer, turned her round and round, then asked her to find her way across the room to a designated spot, then asked another volunteer to count backwards from 100 by sevens. Both exercises demonstrated the frustration that occurs when there’s difficulty in organizing and planning.

“When skills start to erode,” said Pollard, “you just want to do things; others get judgmental, saying things like, ‘He could do it if he wanted to.’” But as tasks begin to take extra concentration, it becomes fatiguing, and people with HD just don’t want to continue. It takes more effort to recall, to answer hundreds of questions in a day, and it just becomes harder to stay focused.

One survey respondent commented, “I loved Jimmy Pollard because of his delivery style.”

Wrapping It Up

End-of-symposium evaluations reflected excitement about the day’s events: “I enjoyed the interactions between clinicians, scientists, patients, care partners, industry. The set-up of the meeting was conducive to a more intimate dialogue!”

As one respondent summed it up, “I enjoyed the talks, but I especially enjoyed the level of professionalism. From the appearance of the speakers and the coordinators to the wonderful food, it let me know that HDers are cared for and important and valuable.”

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Help 4 HD International Hosts Inaugural JHD Kids Walk

This article originally appeared in May 2015.

Dr. Kyle Fink, JHD research scientist at UC Davis, welcomes people to the JHD walk.
Dr. Kyle Fink, JHD research scientist at UC Davis, welcomes people to the JHD walk.


Kayla Horton Sparks presents a gift basket to walk honoree Cameron Brown and his mother, Tina Lavornia Ross.
Kayla Horton Sparks presents a gift basket to walk honoree Cameron Brown and his mother, Tina Lavornia Ross.

Help 4 HD International Hosts Inaugural JHD Kids Walk

By Sharon McClellan Thomason

“Several years ago Jacey Mukka reached out to me to ask me if I could save her little sister, Karli,” says Dr. Jan Nolta, researcher at the University of California at Davis (UC Davis) Institute for Regenerative Cures. “We did not have anything to offer her; we were not even close to the adult trials yet. Karli passed away [at the age of 13]. It broke my heart.”

The seed was planted, though, and Nolta never forgot about Jacey’s request.

“While working toward our CIRM-funded clinical trial for adult HD,” Nolta said, “I continued to think about JHD (Juvenile Huntington’s disease) daily, going to JHDkids.com and watching the videos to keep myself working even when I was tired, even through treatment for breast cancer (I am okay now). With this motivation, we have continued to work quietly but intently on our strategies that could be used to treat JHD, which is far more aggressive and quickly progressing than adult HD, over the past years.”

The more Nolta thought about JHD, and the more she watched the videos of kids with JHD, the more determined she became that something had to be done.

“Joining Facebook one year ago, over the holiday break,” Nolta said, “I connected on a more personal level with many families and wonderful kids who are affected by JHD. I do not have time to log in every day, but when I do, I get a huge dose of renewed inspiration and then go back to work. Posts from the families and the young people themselves who are affected (like Jacey) help me understand the ravages of JHD, and my commitment has grown to be even more intense through these interactions. I share things with my lab members, and they are equally motivated. We also have several young lab members who are at risk, and who we love, and this provides motivation as well.”

Enter Katie Jackson, president of Help 4 HD International Inc., a 501(c)(3) organization, and ardent stem cell advocate. As the wife of a man with Huntington’s disease and the mother of three children at risk for JHD or HD, Jackson began to fear for her children. She also realized that JHD was almost never talked about at the many conferences she attended.

“It’s my worst fear,” Jackson said. “I just can’t imagine what these moms [of kids with JHD] are living through. These are our babies. They need help.”

Jackson called Nolta one night and shared her fear about her children, especially with her husband’s CAG repeat being so high. She asked Nolta if there were any way Nolta could start doing JHD research in the lab at UC Davis. Nolta told her that they’d already started, so Jackson made a commitment to raise money and raise awareness. She said she’d write letters to philanthropists who give money just to children’s causes and also decided to host a JHD walk to help the JHD/HD community come together, to give them hope, and to raise awareness among the general public.

This inaugural walk, Saturday, June 13, 2015, 8:30 a.m.-1 p.m., at McKinley Park in Sacramento, California, has already had a phenomenal response. According to Jackson, monetary donations from sponsors and individuals have already reached over $7,000. Every penny of net proceeds will go to support Nolta’s JHD Initiative, the first ever clinical research for Juvenile Huntington’s disease. “In-kind” donations (raffle prizes and silent auction items) are coming in daily.

According to Nolta, under ten percent of HD cases are in people under 18, but, she says, “We are not sure how accurate that is. JHD is caused by the same CAG repeats in the DNA (often, but not always, a longer stretch of repeats) and is different, with seizures and other problems that are unique. We don’t know exactly how the two diseases (HD and JHD) differ, and more study is needed.”

The JHD Initiative at the University of Iowa is collecting data to better understand the disease, and Nolta is hopeful that this data will help her lab in developing stem cell and gene therapies to treat or even cure JHD.

“We are developing strategies that will actually modify the DNA or shut down the mutant gene,” said Nolta. “This would help with adult HD as well.”

Honoring her commitment, Jackson has been working on the JHD Kids Walk for six months. With sponsors Teva CNS, Auspex, Raptor, and Wal-Mart covering most of the cost of the walk, Jackson emphasizes that every penny of net proceeds will go to support Nolta’s research. Items donated by community businesses and organizations for a raffle and a silent auction will raise additional money for the research. Registration, which is $25, includes a T-shirt, lunch, and entry into the raffles. Thirteen-year-old Cameron Brown, who suffers from JHD, is this year’s official honoree and Poster Child for the Juvenile Huntington’s Disease Kids Walk, the first JHD event ever held in the United States.

Currently, Nolta’s lab is working on two different strategies, a gene therapy/interference study and a gene editing study. Although Nolta is not certain when the research will translate into clinical trials, she says, “Our proposed studies will be accomplished and translated into a clinical trial for Juvenile HD as rapidly as possible.  For JHD, we know that every hour counts.”

One of the most exciting aspects of the walk, for Jackson, is that JHD moms will be meeting each other for the first time in person. Thanks to a generous donation from an anonymous source, moms from as far away as Iowa, Georgia, and Florida, moms who have been each other’s lifelines through social media, are flying to Sacramento, where they will meet face to face, participate in the walk, and even get a personal tour of Nolta’s lab.

“The JHD trials are important to me,” says Denise Hudgell, from Iowa, “because I have a nine-year-old son, Aidan, who has JHD. A trial would mean that there is a chance to stop this disease from taking more and more away from him, a chance at doing things that his friends can do that he can’t. I would be willing to have Aidan participate in the trial. I believe that it would be his best chance at defeating this monster. Our family wants our little boy to have the best chance at a long, happy, pain-free life.”

The trials offer the first hope ever to many who have lived for years without hope.

“My son Cory is 20 years old and in the last stages of this disease,” says Stacey Sargent, from Georgia. “IF he were able to participate, and just receive some comfort from the dystonia and have more quality of life, we would be first in line. Cory was a misdiagnosed child (autism, cerebral palsy) for years prior to the JHD diagnosis when he was 15 years old.”

Even if you cannot attend the walk, donations are encouraged and welcomed. “We appreciate any donation and will put each dollar to good use,” Nolta said. “We do not like to take money from the families suffering from this disease. I would wish that those funds could be used instead to make the kids happy or their lives easier. But sometimes friends will want to help in some way.”

Katie Jackson is passionate when she says, “These children deserve a voice. Even though JHD is rare, that doesn’t mean they don’t deserve a voice. These children haven’t even had a chance to live. With [CAG] expansion, I think we’re going to see more and more cases of JHD. These are our babies. This monster has to stop.”

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