HDSA RESEARCH REPORT Moving Forward and Staying Connected Through Challenging Times

Huntington’s Disease Society of America Huntington’s Disease Society of America

505 Eighth Avenue, Suite 902 New York, NY 10018 www.HDSA.org A Year to Forget Cannot 1.800.345.HDSA [email protected] Stop Our Progress

Dear Friends, dose. Novartis announced plans to launch a Phase 2 trial to investigate an orally administered drug to lower The COVID-19 pandemic has huntingtin. Triplet Therapeutics began (and fully THE MARKER affected all aspects of our society. THE 2020 HDSA RESEARCH REPORT recruited) Shield-HD to better understand how the Over a million lives have been lost, CAG repeats in the huntingtin gene expand to prepare millions more jobs are gone and them to test a drug that could interfere with this CONTENTS countless businesses have been process and Azevan reported clinical trial data shuttered. The research community Fellowships 3 suggesting their drug, SRX-246 may improve was not immune to the consequences irritability and aggression in HD patients. HD Trialfinder 7 of this virus. HD laboratories around the world locked their doors and recruitment to clinical trials in many While 2020 will undoubtedly go down in history as Clinical Trial Updates 9 cases was halted to curb the spread of the virus. one of the most challenging years ever, I will remember it as a year of unprecedented expansion of our HD drug HD Research Hot Topic: CRISPR/Cas9 — The pandemic forced HDSA to cancel its in-person pipeline. An expansion based on solid science from A Tool for Precise Genome Editing 14 Annual Convention for the first time in our history. observations in humans. So, while we anxiously await However, cancelling Convention altogether was never HDSA Research Communications 15 results from the current huntingtin lowering trials like an option, so, the HD community did what it always Generation-HD1 and Precision-HD1/2, I am excited HD Research Conferences 16 does… adapt and persevere. We came together quickly and more hopeful than ever by the depth and diversity to convert our New Orleans Convention into a virtual of our clinical trial bench. HDSA Centers of Excellence 18 event that safely reached more than 1500 people in over 90 countries. It was here that families got first- I hope that you enjoy reading about our expanding drug HDSA’s Scientific Advisory Board 20 hand updates from scientists and clinicians from pipeline in this year’s The Marker and here is to a safe around the globe on our collective progress since and happier 2021 with continued progress towards a Head Writer: Leora Fox, PhD we last met in Boston. world free of HD!

© 2020 Huntington’s Disease Society of America. Despite the setbacks 2020 presented, this year marked All rights reserved. several notable events in the history of HD research. uniQure dosed the very first HD patient in the US with an experimental gene therapy that could permanently George Yohrling, PhD lower levels of the huntingtin protein with just one Chief Scientific Officer & Chief Mission Officer, HDSA

THE MARKER Huntington’s Disease Society of America 1 2020 Research Report 2020 Human Biology Project Fellowships

In October of 2020, HDSA awarded four grants disease science in the human condition. Applicants under the Society’s largest research initiative, the worldwide proposed projects addressing HD through HDSA Huntington’s Disease Human Biology Project. small clinical studies or donated human samples. These grants, totaling $523,000, represent HDSA’s This year’s winners hail from Australia, Canada, patient-centric research focus which brings basic and Germany, and the United States. clinical researchers together to facilitate Huntington’s

Simon Laganiere, MD Bjoern von Einem, PhD Yifat Glikmann- Melanie Alpaugh, PhD Beth Israel Deaconess Hospital University of Ulm Johnston, PhD Université Laval Monash University Dr. Laganiere will use Dr. von Einem’s project is Dr. Alpaugh aims to identify innovative imaging focused on improving upon Dr. Glikmann-Johnston factors in the blood, including techniques to study how the technology to monitor will carry out a large study a protein called tau, that brain networks interact in the effectiveness of huntingtin- to understand the key could be used to track presymptomatic individuals lowering ASO drugs that are differences in gut bacteria cognitive symptoms of HD. during challenging cognitive currently in clinical trials. between people with and A reliable and noninvasive tasks. This type of mental The goal is to noninvasively without the HD gene. This tool to predict which stress test can show HD measure huntingtin in the foundational work will serve individuals are likely to related brain changes earlier spinal fluid, by sampling tiny to determine whether there develop cognitive deficits than they would otherwise bubbles called exosomes. is a relationship between the would have important appear. If successful, results This work will help guide microbiota in our intestines, implications for clinical from this study will help the development of potential and mood and cognition in trials as well as symptom determine the optimal disease-modifying treatments people with HD. The gut management. timing for eventual disease for HD. may be an excellent target modifying treatments. for drug development and dietary interventions.

THE MARKER THE MARKER 2 Huntington’s Disease Society of America Huntington’s Disease Society of America 3 2020 Research Report 2020 Research Report 2020 Donald A. King Summer Research Fellowships

In May 2020, five exceptional In order to further meaningful each year and are reviewed After rigorous review by the Funding for this year’s undergraduate students were discoveries about Huntington’s by HDSA’s Scientific Advisory HDSA’s Scientific Advisory Don King Fellows was made awarded HDSA’s Donald A. King disease and ensure that bright Board. Board, five young scientists, possible, in part, by a generous gift Summer Research Fellowships. young scientists are steered the most in the history of from Hal and Isabelle Pilskaln. This year’s applicants were These awards are named in towards the field, this program this program, were awarded evaluated by the quality of their Funding HD research has been honor of Donald King, who supports undergraduates who 2020 Donald A. King Summer personal academic achievements, a life-long passion for the Pilskalns served as HDSA Board Chairman have committed their summers Research Fellowships. Due to mentoring plan, experimental and HDSA is indebted to them from 1999 to 2003 and worked to training in an HD research this year’s unusual circumstances, design, and the feasibility of for their support. tirelessly to advocate for HD lab. Applications are accepted these projects were extended achieving their scientific goals. families until his death in 2004. between December and March throughout 2020.

Sophia Friedman Amber Keith Lav Patel Tasneem Sadok Kadambari Vyas Wellesley College University of California at Irvine Ohio State University University of California at Los Angeles University of Central Florida

Sophia is completing her project Amber worked with Sarah Lav is doing HD research in the Tasneem is working under the Kadambari was mentored by at the Massachusetts Institute of Hernandez, PhD, a 2017 HDSA laboratory of Richard Fishel, PhD, guidance of Lindsay DeBiase, PhD, former HDSA Human Biology Fellow Technology with David Housman, Berman-Topper Career Development where he aims to visualize DNA to study how changes in energy Dr. Amber Southwell and studied PhD, exploring genes known to alter Fellowship recipient, in the repair proteins that affect the production affect the brain’s support aggression in mouse models of HD. the onset of HD symptoms. laboratory of Dr. Leslie Thompson, expansion of CAG repeats. cells in areas vulnerable to HD. to develop a model of the blood-brain barrier derived from human cells.

THE MARKER THE MARKER THE MARKER 4 Huntington’s Disease Society of America Huntington’s DiseaseHuntington’s Society of Disease America Society 5of America 5 2020 Research Report 2020 Research Report2020 Research Report 2020 Berman-Topper Family HD Trialfinder HD Career Development Fellowship

As part of HDSA’s commitment to developing of Massachusetts Medical School had been granted In 2015, to facilitate participation in clinical trials Trialfinder listing stays up-to-date with studies that the next generation of passionate and innovative this distinguished award for 2020. for both families and researchers, HDSA created need participants. Anyone can visit the website to Huntington’s disease scientists, the Berman-Topper HD Trialfinder, a clinical trial matching service. It read about ongoing studies, and by creating a profile Dr. Gholamalipour’s project will attempt to reverse Family HD Career Development Fellowships provide is a way for individuals with Huntington’s disease, for yourself, a loved one, or a patient, users can find the CAG repeat expansion sequence in the mutant up to $80,000 of funding per year for three years to caregivers, healthy volunteers, out which nearby studies they are eligible huntingtin gene back to the normal range (less than young scientists and clinicians who desire to make and physicians to connect with for, and locate contact information to get 36 CAG repeats) in cellular and animal HD models HD part of their long-term career plan. These current research studies. involved directly. This year we saw the using the CRISPR-Cas9 nickase genome-editing tool. prestigious awards are made possible due to the HD Trialfinder includes an easy- number of HD Trialfinder users grow to generosity of the Berman and Topper families. Upon hearing the announcement of Yasaman’s to-use website and free call center staffed over 7,500. They have undoubtedly contributed selection, Michael Berman said, “Dr. Gholamalipour by trained HD clinical trial navigators. to the speedy US recruitment of three huntingtin- HDSA received applications from researchers joins a terrific group of young scientists who have lowering trials. all around the world for this competitive grant. Through involvement in the worldwide HD research added both knowledge and enthusiasm to the field In May, HDSA was pleased to announce that community, HDSA keeps track of national, inter- Visit www.hdtrialfinder.org or call 1-866-890-6612 of HD research, and we are sure that her contribution Dr. Yasaman Gholamalipour, of the University national, and local clinical trials so that the HD to learn more. will be significant.”

Previous Recipients of the Berman-Topper HD Career Development Fellowship

Dr. Ricardo Mouro-Pinto 2016 Massachusetts General Hospital

Dr. Tamara Mauri McMaster University 2017 Dr. Sarah Hernandez University of California at Irvine

Dr. Rachel Harding 2018 University of Toronto

Dr. Lauren Byrne University College London 2019 Dr. Nicholas Caron University of British Columbia

Dr. Yasaman Gholamalipour, of the University of Massachusetts Medical School has been awarded the 2020 Berman-Topper Family HD Career Development Fellowship Grant

THE MARKER THE MARKER 6 Huntington’s Disease Society of America Huntington’s Disease Society of America 7 2020 Research Report 2020 Research Report Clinical Trial Updates

ENROLL-HD WAVE LIFE SCIENCES Enroll-HD Evolving to Meet Future Wave Life Sciences Announced Top-Line Clinical Trial and Researcher Demands Results from PRECISION-HD2 Trial Enroll-HD is an observational study that is just one Wave Life Sciences is investigating huntingtin- component of the entire Enroll-HD research lowering ASOs in two Phase 1b/2a clinical trials platform that serves to enable all future HD clinical called PRECISION-HD1 and PRECISION-HD2. studies. Enroll-HD is sponsored and managed by Whereas the Roche drug lowers all huntingtin, CHDI Foundation, a not-for-profit biomedical Wave’s approach focuses on lowering only the research organization dedicated to rapidly developing mutant form of huntingtin protein and leaving therapies that slow the progression of Huntington’s the healthy form intact. Participants in these early disease. safety trials (and any future recipient of these ASOs) must have not only the HD mutation, but The COVID-19 pandemic has expectably had a an additional variation in their HD gene that acts negative impact on the number of in-person like a “genetic GPS” visits conducted directing the drug to the at the study sites, right spot. This is true for with the lowest 61% of people with HD. number of visits conducted in April On December 30, 2019, 2020. While we saw a slight rebound in the late after we had published The Marker for 2019, summer/early fall, the second wave of COVID-19 Wave announced encouraging topline results from is slowing down progress on this important study PRECISION-HD2, their Phase1b/2a placebo- once again. controlled trial evaluating the investigational therapy WVE-120102 targeting SNP2. When they The ultimate goal of HD researchers is to prevent compared all patients treated with WVE-120102 HD gene expansion carriers from ever getting sick. to patients who received placebo and they saw a To do so, pre-symptomatic clinical trials will be statistically significant reduction of 12.4% in mutant required. To make this goal a reality, the new huntingtin protein in the cerebrospinal fluid (CSF). Enroll-HD recruitment strategy is focusing on the recruitment of at risk, pre-manifest, and early-stage In addition to demonstrating a reduction in mutant participants. As of November 1, 2020, there are huntingtin protein, WVE-120102 was safe and nearly 20,000 active participants enrolled at 158 well-tolerated across all patients. In hopes of active sites in 20 countries around the world. The lowering huntingtin even more, Wave added a highest recruiting HDSA Centers of Excellence for higher dose (32mg) group to both the PRECISION- the Enroll-HD study are the University of California HD1 and HD2 trials. We expect results from these at San Diego (UCSD) and Vanderbilt University. studies in early 2021. Both have recruited over 300 participants.

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UNIQURE ROCHE NOVARTIS uniQure Administers the World’s First Gene Therapy GENERATION-HD1 Trial Novartis SMA Drug Branaplam Receives for HD in Clinical Trial of AMT-130 of Roche Drug Tominersen Continues — Orphan Drug Designation to be Tested Results Expected in 2022 in HD Patients This year marked an exciting milestone in the The first two patients were observed for an initial history of HD research. This June, the very first HD period of 90 days to ensure this approach was safe. GENERATION-HD1 is an ongoing trial to test the In October of 2020, Novartis announced that they patient in the world was treated with a gene therapy An independent Data Safety Monitoring Board effectiveness of a huntingtin-lowering drug in had received special status from the FDA, known as aimed at decreasing the expression of the gene that (DSMB) reviewed the data on the first two development by the pharmaceutical company Orphan Drug Designation, to study an experimental causes HD. The drug, called AMT-130, is a piece of participants and determined that it was safe to Roche. In February of 2020, Roche announced drug called branaplam in HD patients. Orphan Drug man-made genetic code called a microRNA. It is proceed with the dosing of additional people. that the drug had been given an official name: Designation is a set of financial incentives that makes packaged inside a type of harmless virus and When the study is complete, 26 people will have tominersen. This Phase 3 trial is the first of its it easier, more attractive, and more efficient for delivered deep into undergone neurosurgery and will have received kind, and is fully companies to developRECREATE treatments PMS(FROM for rarePDF) diseases. the brain via a AMT-130 or an imitation surgery where no drug is recruited, with nearly Branaplam was neurosurgery. Once injected into the brain. For 18 months after the 800 participants at developed for the the virus containing surgery, participants will have frequent follow-up about 100 sites across treatment of a the drug enters a brain visits, with imaging, neurological exams, blood the globe. Tominersen genetic disease in cell, the virus will make the huntingtin-lowering draws, and other tests to determine the safety is an antisense oligonucleotide (ASO) designed to children called spinal muscular atrophy (SMA). micro-RNA that will instruct the cell to make less of the drug. Then they will have yearly visits until attack the RNA message that produces huntingtin While testing it in animals and humans, Novartis toxic huntingtin protein. In theory, with only one 5 years after the surgery. protein, and it is delivered via spinal injection. The discovered that it can lower levels of the huntingtin surgical procedure, the drug will keep attacking George Yohrling, Chief Scientific Officer and Chief trial participants are visiting study sites to receive protein, which is the culprit in HD. The exciting part: huntingtin indefinitely. This experimental procedure Mission Officer at HDSA said, “There is an urgent the drug or a placebo every 2 months over the this drug is already known to be safe in patients with has so far been successful at lowering huntingtin in need for disease-modifying options to treat course of two years. SMA, and is taken by mouth. The next step will be animals like mice and mini-pigs. testing branaplam in larger numbers of people, to Huntington’s disease, and we’re excited to have Roche announced this year that the results of the make sure it is safe for HD patients and see whether an investigational gene therapy now available for study are expected in 2022. If it proves effective at it could help with HD symptoms. Novartis plans to HD patients. Based on the promising preclinical slowing down the progression of HD symptoms, the start a trial of branaplam in HD patients in 2021, and data presented on AMT-130 over the years, we are next step would be the process of getting approval receiving Orphan Drug status will help them do so. optimistic about its potential to alter the course of from regulatory agencies like the FDA. this devastating disease.” This first HD gene therapy trial is an extraordinary Striatum milestone in HD clinical research, and HDSA will continue to work closely with uniQure to provide families with up-to-date information about the progress of the study.

AMT-130 will be injected into the striatum, a deep part of the brain affected in the early stages of Huntington’s disease.

THE MARKER THE MARKER 10 Huntington’s Disease Society of America Huntington’s Disease Society of America 11 20202019 ResearchResearch ReportReport 2020 Research Report FURTHER UPDATES: ADDITIONAL HD DRUG TRIALS IN PROGRESS IN 2020 NEUROCRINE BIOSCIENCES TRIPLET THERAPEUTICS Neurocrine Biosciences is conducting the KINECT-HD Boston-based company Triplet Therapeutics is study, a Phase 3 clinical trial of a drug to treat HD taking a novel approach to HD drug development. movement symptoms (chorea). The medication, One recent focus of HD research has been the valbenazine, is already approved for people with phenomenon of somatic CAG repeat expansion. tardive dyskinesia, a condition that also causes This is the observation that the number of CAG involuntary movements of the face and limbs. repeats in some cells of the body and brain can Neurocrine plans to enroll 120 participants increase as a person with HD ages. The continued with HD, ages 18 to 75, for this 18-week study. expansion of CAGs is believed to accelerate the The KINECT-HD trial began in early 2020 and is onset of symptoms. Triplet Therapeutics aims to ongoing at more than 25 sites in North America. target the DNA repair machinery to slow down or stop this process. In parallel to developing therapies, VACCINEX PHARMACEUTICALS they have begun an observational study called Unfortunately, we learned in September of 2020 SHIELD-HD, which recruited in record time. It will that the SIGNAL trial being conducted by Vaccinex follow about 60 adults (ages 18–63) with HD for Pharmaceuticals did not meet its primary endpoints. seven study visits over the course of 2 years. It will This Phase 2 trial was designed to test whether a drug measure a range of symptoms and abilities along called pepinemab could help with HD symptoms, with testing of blood and spinal fluid to better measuring participants’ performance on cognitive tests understand how CAG repeats lengthen over time and other measurements of their well-being. At the end in different individuals. This information will inform of the SIGNAL trial, the drug was deemed safe and future drug studies to attempt to shrink CAG repeats tolerable, but participants who received pepinemab or slow their growth. did not perform better than those who received the placebo. Nevertheless, the data collected during study ANNEXON BIOSCIENCES visits is invaluable to our understanding of HD Annexon Biosciences is a company based in progression, and the results of the SIGNAL trial will San Francisco that is developing therapies to inform trials of pepinemab in Alzheimer’s and head preserve the connections between neurons, called and neck cancer patients. synapses, in the HD brain. Their target is a part of the immune system called the classical complement PRILENIA THERAPEUTICS cascade, which goes awry in neurodegenerative Prilenia was founded with the goal of developing diseases and immune disorders. In 2020 Annexon pridopidine, a drug that was tested several years ago began conducting a small trial of their drug in HD patients in a Phase 2 trial called PRIDE-HD. ANX005 in people with HD. Twenty-five adults age Although that study did not meet its key clinical goals, 18 and up will be recruited at eight sites in the US. some patients showed improvements in function over This clinical trial was born out of pre-clinical studies the course of the trial, in their ability to manage at work originally conducted by Dr. Daniel Wilton during and at home. In November, Prilenia launched PROOF- his HDSA HD Human Biology Fellowship, which HD, a larger and longer trial of pridopidine. This Phase 3 is a testament to the impactful, human-centric study will involve 480 participants at an early stage of work we fund. disease, who will take the drug for about 18 months to determine if it could preserve brain function in HD.

THE MARKER THE MARKER 12 Huntington’s Disease Society of America Huntington’s Disease Society of America 13 2020 Research Report 2020 Research Report CRISPR/Cas9 — 2020 HDSA A Tool for Precise Genome Editing Research Communications

The Nobel Prize in Chemistry was awarded potential use in brain diseases. It is worth noting that HDSA continues to provide families with the latest CONVENTION this year to Emmanuelle Charpentier and Doudna and Charpentier are the first women-only information about clinical trials, HD research news, The 2020 Virtual HDSA Convention featured a Jennifer A. Doudna, who discovered the gene duo to be awarded a Nobel Prize in any category. and HD research activities. variety of research sessions, including researcher editing technology, CRISPR/Cas9. This technology Q&As, science trivia with HD scientists from HD RESEARCH WEBINARS that has allowed scientists to manipulate genetics families, trial updates, a clinical showcase featuring Research webinars give academic and industry scientists in unprecedented ways, opening new doors to the studies that are soon to be recruiting, and novel a direct forum to share their latest findings with families. study of gene function and disease. The technology approaches to HD therapy. has allowed HD researchers all over the world to THIS WEEK IN HD RESEARCH HD-COPE create new models and explore new questions Dr. Leora Fox provides a roundup Now in its third year, the Huntington’s Disease about HD biology. Although CRISPR techniques are of HD research activities in HDSA’s Coalition for Patient Engagement (HD-COPE) unlikely to be used for treating HD in humans in the blog, This Week in HD Research. continued to provide patient and family input near future, there are scientists working to improve HDBUZZ to help industry researchers better upon CRISPR and other DNA editing technology for Dr. Emmanuelle Charpentier Dr. Jennifer A. Doudna HDSA supports HDBuzz, a website understand HD and to guide devoted to clear and effective their clinical plans. Numerous communication about HD research companies met virtually in 2020 and clinical studies. with members of the HD-COPE team to help shape their future clinical development plans. SOCIAL MEDIA HDSA shares relevant scientific news on our social media channels. DNA

RNA

Cas9 Protein

3D rendering of CRISPR DNA Editing

THE MARKER THE MARKER 14 Huntington’s Disease Society of America Huntington’s Disease Society of America 15 2020 Research Report 2020 Research Report 2020 HD Research Conferences

HUNTINGTON STUDY GROUP CHDI FOUNDATION Huntington Study Group Holds Virtual 2020 Conference 2020 CHDI HD Therapeutics Conference shared their intention to The Huntington Study Group is a clinical research NOVARTIS The Huntington’s Disease Therapeutics launch a trial of a network focused exclusively on Huntington disease. Novartis announced the Conference, hosted by CHDI, is the largest annual huntingtin-lowering small Each year they host a conference that provides exciting news of their plans gathering of HD researchers. In February of 2020 molecule, a particularly education and training for HD clinicians and to initiate a Phase 2 trial participants gathered in Palm Springs, California exciting development researchers, with a final day reserved for families of an oral drug called for a 3-day conference featuring presentations because this drug could and the wider HD community. Their virtual event, branaplam, and revealed from academic scientists, industry leaders, and be taken by mouth. HD in Focus, took place in late October. Many its mechanism of action for research nonprofits. pharmaceutical companies presented brief updates huntingtin-lowering in HD. Other compelling sessions focused on the path to A highlight of this year’s conference was the on their novel approaches to HD (See Clinical Trial Updates on page future trials that could prevent HD huntingtin-lowering session, in treatments. 10). This therapy is in clinical trials symptoms, novel imaging techniques which uniQure presented the for the fatal childhood disorder to enable more precise visualization AZEVAN PHARMACEUTICALS science and design behind the spinal muscular atrophy, and was of the HD brain, insights into the A highlight of the conference was world’s first trial of an HD gene also found to lower huntingtin huntingtin protein, and advanced a presentation of clinical trial data therapy, delivered via brain in patients’ cerebrospinal fluid. computational modeling to help from Azevan Pharmaceuticals. surgery. (See Clinical Trial Updates clinicians predict, monitor, and treat Azevan recently analyzed results NEUEXCELL THERAPEUTICS on page 9). This small safety trial symptoms. The final session explored from a Phase 2 trial called STAIR NeuExcell Therapeutics hopes began in June 2020 with two findings from large scale genetic of a drug called SRX246, which to rebuild damage in the HD brain participants, and an additional two studies, focusing on other genes that might shape the was designed to decrease aggression and irritability by converting the brain’s support cells into new underwent the procedure in September 2020. course of HD by influencing types of symptoms and in people with HD. The STAIR study showed that neurons. They plan to initiate clinical trials for Voyager Therapeutics presented a similar surgical age of onset. Such findings are beginning to drive HD SRX246 was safe for HD patients and lessened the HD patients in 2022. gene therapy approach which is also slated for drug development in the areas of DNA repair and frequency of aggressive outbursts in those who human trials in the near future. PTC Therapeutics MITOCHON PHARMACEUTICALS personalized genetic medicine. experience them. This is the first drug to focus Mitochon Pharmaceuticals is exploring the use of specifically on a behavioral symptom in HD patients. existing drugs that target mitochondria (the energy powerhouses in our cells). The goal is to stop the production of reactive oxygen species in HD patients which are thought to cause damage to the HD brain.

NEUBASE THERAPEUTICS Neubase Therapeutics has developed a genetic technology administered intravenously which can spread throughout the body and brain. They hope Azevan’s SRX246 reduced measures of stress, fear, to move forward with this platform to target mutant aggression, depression, and anxiety in preclinical models, huntingtin in human studies. including neuroimaging investigations. MRI studies confirmed robust central nervous system effects after oral dosing in Pictured are past recipients of the Berman-Topper HD Career circuits that are affected in stress-related disorders. Development Fellowship Grant (see page 6): Lauren Byrne, Tamara Maiuri, Rachel Harding, Nick Caron, Ricardo Mauro- Pinto, and Sarah Hernandez with Grant co-founder, Michael Berman (middle) at the CHDI HD Therapeutics Conference in THE MARKER Palm Springs, CA. THE MARKER 16 Huntington’s Disease Society of America Huntington’s Disease Society of America 17 2020 Research Report 2020 Research Report Huntington’s Disease Society of America Announces Fifty 2020 HDSA Centers of Excellence

In February of 2020, HDSA announced that fifty The HDSA Centers of Excellence provide an elite HDSA CENTERS OF EXCELLENCE Stanford University (CA) University of Texas Health Science Center-Houston outstanding Huntington’s disease (HD) care team approach to Huntington’s disease care and Albany Medical College (NY) Stony Brook University Hospital (NY) University of Utah facilities had been awarded the designation of research. Patients benefit from expert neurologists, Beth Israel Deaconess University of Alabama, Birmingham HDSA Centers of Excellence for 2020. The HDSA psychiatrists, therapists, counselors, and other Medical Center (MA) University of Vermont, University of Buffalo (NY) Frederick Binter Center Centers of Excellence are multi-disciplinary care professionals who have extensive experience Cleveland Clinic (OH) teams with expertise in Huntington’s disease that working with families affected by HD and who work University of California, Davis for Parkinson’s Disease & Columbia Health Sciences/ Medical Center Movement Disorders share an exemplary commitment to providing collaboratively to help families plan the best HD NYS Psychiatric Institute (NY) comprehensive care. care program throughout the course of the disease. University of California, Irvine University of Virginia Dartmouth-Hitchcock Applications to become an HDSA University of California, Los Angeles University of Washington (WA) The 2020 HDSA Centers of Medical Center (NH) Center of Excellence are open to all University of California, San Diego University of Wisconsin Excellence program expanded to Duke University (NC) clinics in the United States who University of California, Vanderbilt University 50 Centers from 47 in 2019, and Emory University (GA) share HDSA’s commitment to San Francisco Medical Center (TN) from just 20 in 2015. The four high-quality, comprehensive care Georgetown University (DC) new Centers of Excellence for University of Colorado Virginia Commonwealth University and access to clinical research. Hennepin County 2020 are: University of Florida Washington University Medical Center (MN) School of Medicine (MO) n Henry Ford Hospital (Michigan) “The growth of the HDSA Center University of Iowa Henry Ford Hospital (MI) of Excellence program has been n Stony Brook University University of Kansas Medical Center nothing short of amazing. The Indiana University Hospital (New York) University of Louisville (KY) Centers provide crucial multidisciplinary care, Johns Hopkins University (MD) LEVEL 1 PARTNER HD CLINICS n University of Kansas Medical Center University of Miami (FL) opportunities to participate in clinical research, Massachusetts General Hospital Kaiser Permanente (CA) n University of Miami and education for the medical and non-medical University of Nebraska Northwestern University (IL) Oregon Health Sciences University community,” said Dr. Donald Higgins, HDSA Board Medical Center The strategic expansion of the Center of Excellence Ochsner Health System (LA) Cole Neuroscience Center, member, Chair of HDSA’s Center Programs and University of Pennsylvania program allows HDSA to increase access to expert HD University of Tennessee Ohio State University clinical care and clinical trial opportunities to more Education Advisory Committee and National University of Pittsburgh Medical Center Director of Neurology for the Veteran Health OSF-Illinois Neurological Institute Medical Center (PA) families across the United States. With new Centers in University of Tennessee, Florida, Kansas, Michigan, and New York HDSA now Administration. “Kudos to HDSA for the unwavering Rocky Mountain University of Rochester (NY) Erlanger Medical Center support of this important program and to the Center Movement Disorders Clinic (CO) offers care locations in 33 States plus the District of University of South Carolina University of Mississippi Columbia. This year, HDSA will be awarding a total Program and Education Advisory Committee tasked Rush University Medical Center (IL) School of Medicine Medical Center with reviewing applications for designation!” of $1,550,000 to the Centers of Excellence program. Sanford Health (ND) University of South Florida University of South Alabama

HDSA CENTERS OF EXCELLENCE By the Numbers $1,550,000 250% 92% 50 + 6 33 awarded program growth of Centers provide HDSA Centers partner states in 2020 since 2015 clinical trials of Excellence sites and D.C.

THE MARKER THE MARKER 18 Huntington’s Disease Society of America Huntington’s Disease Society of America 19 2020 Research Report 2020 Research Report 20 21 HDSA Scientific Advisory Board

A Special Thanks to the HDSA Scientific Advisory Board

We are grateful to the HDSA Scientific Advisory HDSA are scientifically sound, pertinent and provide Board (SAB) members who so generously donate a high impact to the HD research community. their time and talent as volunteers! The HDSA SAB Additionally, the SAB advises the HDSA Board is comprised of leading experts in their fields. The role of Trustees and management on a range of issues of the SAB is to provide scientific review of research influencing the scientific direction of the Society. proposals to ensure that the research programs at

Leslie Thompson, PhD Neil Aronin, MD Susan Browne, PhD Jang-Ho Cha, MD, PhD SCIENTIFIC ADVISORY BOARD CHAIR Professor and Chairman of Executive Director, Global Translational Medicine Professor, University of California at Irvine Endocrinology and Metabolism, Acadia Pharmaceuticals Head, Neuroscience, Novartis Save UMass Medical School Institutes for BioMedical Research the HDSA SP 36TH ANNUAL Dates! CONVENTION 2021 JUNE 10-12

Kenneth Fischbeck, MD Tanya Garcia, PhD Michelle Gray, PhD David Howland, PhD Blair Leavitt, MD, PhD NIH Distinguished Investigator, Associate Professor, Assistant Professor, University Director, CHDI Foundation Professor, University Chief, Neurogenetics Branch University of North Carolina of Alabama-Birmingham of British Columbia

Marcy MacDonald, PhD Melissa Moser Harry Orr, PhD Amber Southwell, PhD Emily Troncoso, JD Professor, Harvard Medical Community Representative Professor, Assistant Professor, Community Representative School, Mass General Hospital University of Minnesota University of Central Florida PLEASE NOTE: Our ability to host the 36th Annual HDSA Convention in Spokane is dependent on federal, state and local public health guidelines. Please check www.HDSA.org regularly for updated THE MARKER information. Thank You! 20 Huntington’s Disease Society of America 2020 Research Report Huntington’s Disease Society of America

OUR MISSION To improve the lives of people with Huntington’s disease and their families.

OUR VISION A world free of Huntington’s disease.

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities often starting in their prime working years. Currently, there is no cure for Huntington’s disease.

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 that causes Huntington’s disease. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 individuals at-risk of inheriting the disease.

The Huntington’s Disease Society of America (HDSA) is the premier nonprofit organization dedicated to improving the lives of everyone affected by HD. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today and hope for tomorrow for people with HD and their families.

Across the United States HDSA supports 50 volunteer-led Chapters & Affiliates, 50 HDSA Centers of Excellence, more than 60 social workers and 80 support groups specifically for HD families.

HUNTINGTON’S DISEASE SOCIETY OF AMERICA 505 Eighth Avenue, Suite 902 New York, NY 10018 1.800.345.HDSA www.HDSA.org