Greetings from the ALS Multidisciplinary Clinic in the Healey & AMG Center for ALS at Mass General,
I hope you are staying safe and remain cautiously optimistic about the efforts to put the COVID-19 pandemic behind us. Here at the Healey & AMG Center for ALS, we are hard at work exploring every angle to find the answers we hope will lead to the cures.
On July 29, I had the opportunity to join individuals with ALS, family members and others offering testimony before the House Energy & Commerce Subcommittee on Health to ask for their support of two important bills: the ACT for ALS and the Promising Pathways Act.
We are excited by our substantial progress in fighting ALS:
- The HEALEY ALS Platform Trial continues to reshape the ALS research landscape. Enrollment is nearly complete in the first three regimens, putting us on track for results by mid-2022.
- Our team has expanded dramatically to accommodate the current blossoming of ALS research and to shape tomorrow’s leaders, we are supporting several early-career scholars and interns.
- Our trial with Amylyx, whose drug slows progression and is estimated to extend survival by 11.5 months, was submitted for approval in Canada, will be submitted to the European regulatory agency for provisional approval and is being confirmed with a new global trial, co-led by Healey & AMG Center for ALS Investigator Dr. Sabrina Paganoni.
- Mark Albers, MD, PhD, whose primary focus is Alzheimer’s disease, has worked with the Healey & AMG Center to find commonalities with ALS and across neurodegeneration and is developing an algorithm that identifies FDA-approved drugs that might be repurposed to treat ALS, frontotemporal dementia and/or Alzheimer’s disease.
- We are launching our PREVENT ALS initiative. This project holds the key to stopping ALS in its tracks – before it even begins. Our global research efforts are now allowing us to think about preventive strategies, in addition to earlier diagnosis and intervention. This is a huge leap forward, with special thanks to the families with one of the inherited genes who are willing to share samples and participate in research studies.
I am so grateful to every one of you, our Healey & AMG Center family. Together, we will beat this devastating disease.
Best wishes,
Merit Cudkowicz, MD, MSc
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Our pivotal HEALEY ALS Platform Trial launched enrollment for the first three regimens in July 2020 and added a fourth in January 2021. We are excited to announce that we are quickly approaching completion of our enrollment goal for the first three regimens in the coming weeks and the fourth regimen should be fully enrolled two to three months later! This is a critical milestone and brings us one step closer toward result reporting for these first three regimens as early as mid-2022. A fifth drug will be added in November and we received three additional therapy applications that are under consideration to be added next year.
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DR. MERIT CUDKOWICZ ADDRESSES CONGRESSIONAL SUBCOMMITTEE |
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On July 29, 2021, Dr. Merit Cudkowicz addressed members of the House Energy & Commerce Subcommittee on Health in a hearing entitled, "The Path Forward: Advancing Treatments and Cures for Neurodegenerative Diseases.” Click here to read Dr. Cudkowicz’s full testimony or watch the testimony here, starting at the 03:06:35 mark.
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MARK ALBERS, MD, PHD, SPEAKS ON NEURON LOSS AND RNA |
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Congratulations to Mark Albers, MD, PhD whose research exploring neuroinflammation, viral mimicry, neuronal loss and the potential for repurposing FDA approved drugs in people with neurodegenerative diseases like ALS and FTD was recently published in Science Translational Medicine. View a video of Dr. Mark Albers discussing his work here.
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Introducing the 2021 class of Healey & AMG Center for ALS young investigators - our next generation of ALS experts: |
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Stephen Johnson, MD
Neurodegenerative Clinical Research fellow
Dr. Stephen Johnson joined the Healey & AMG Center for ALS at Mass General as a Neurodegenerative Clinical Research fellow under the primary mentorship of Dr. James Berry, MD, MPH, inaugural incumbent of the Averill Healey Endowed Chair in ALS, Winthrop Family Scholar in ALS Sciences. He completed medical school at University of Missouri, neurology residency at Mayo Clinic, and neuromuscular fellowship at Mass General Brigham. He is beginning his ALS clinical research fellowship with specialized training in biostatistics and study design at the Harvard T.H. Chan School of Public Health. His research efforts will focus on aspects of ALS clinical trial design, the use of digital technologies to assess ALS disease progression, and the impact of social determinants of health on ALS outcomes. He is excited for the opportunity to join the Healey & AMG Center for ALS Research and Neurological Clinical Research Institute and advance our understanding and management of ALS.
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Yuyu Song, PhD
Byrne Family and Judith & Pape Adams fellow
Dr. Yuyu Song is the 2021 recipient of the Byrne Family and Judith & Pape Adams fellowship. She is an instructor in the Department of Neurology at Mass General under the mentorship of Drs. Bradley Hyman and Clotilde Lagier Tourenne, MD, PhD, inaugural incumbent of the Araminta Broch-Healey Endowed Chair in ALS. She trained as both a physician and a basic research scientist. She has a primary interest in research projects related to adult-onset neurodegenerative diseases, with a focus on Amyotrophic Lateral Sclerosis (ALS) and Alzheimer’s Disease (AD). This interest was first stimulated by her clinical experiences and eventually led to graduate work that explored topics related to both normal neural development and neurodegeneration including: 1) specializations of the neuronal cytoskeleton that are essential for normal neuronal structure and function; and 2) molecular mechanisms underlying adult-onset neurodegenerative diseases. Dr. Song’s research project will address the issue that while all people with ALS exhibit motor dysfunction, some people also develop variable degrees of cognitive impairment characteristic of Frontal Temporal Dementia (FTD). Although the connection is well documented, we do not understand what determines whether someone will develop ALS, FTD, or ALS/FTD. Dr. Song’s proposal focuses on selective molecular and cellular vulnerabilities in various brain regions of people with these differential clinical manifestations. If successful, this will help us understand the nature of ALS with and without FTD, as well as developing novel therapeutic strategies that might be tailored to fit the neuropathology in each person.
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Cullen Young Investigators
The Cullen Young Investigators Award will be renewed for a second year! We are proud to share the great strides our current Young Investigators, Dr. Matthew Nolan and Dr. Aaron Held have made over the last year.
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Dr. Matthew Nolan joined the laboratory of Dr. Clotilde Lagier Tourenne, MD, PhD, in October 2019 and is an Instructor at Harvard Medical School. He and his team are working to find drugs that are capable of modulating stathmin 2 (STMN2) expression. Nearly all people with ALS have dysfunction of the RNA-binding protein, TDP-43. It has been found that the gene most affected by loss of this protein is the neuronal growth-associated protein, STMN2. The lack of STMN2 is a hallmark of ALS and links reduced TDP-43 function to enhanced neuronal vulnerability while also implying that STMN2 modulation may be a viable therapeutic target for a majority of people with ALS. Overall, the results of this project will provide mechanistic insights into the regulation of STMN2, with the goal of identifying drugs and drug targets of direct benefit in human disease. The team has already begun to screen compounds for effectiveness in increasing STMN2 expression and the next phase of the project will be data analysis, selecting the most effective compounds, and validation of their effect in cells derived from people with ALS.
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Dr. Aaron Held joined the laboratory of Dr. Brian Wainger, MD, PhD, inaugural incumbent of the Alexander Healey Endowed Chair in ALS in December 2018. Dr. Held is studying the influence of surrounding cells on motor neuron dysfunction. Although ALS is a disease of the motor nervous system, disease progression is driven by cells other than motor neurons, such as microglia, astrocytes, and oligodendrocytes. The Wainger lab recently published a protocol that differentiates human induced pluripotent stem cells (iPSCs) into organoid cultures that contain both motor neurons and these other cell types that drive disease progression. Dr. Aaron Held’s project is to use these organoid cultures to determine how other cell types influence motor neuron degeneration. Dr. Held already developed new tools for identifying and manipulating motor neurons in organoid cultures. He will now differentiate organoids from iPSCs with ALS mutations to study motor neurons within these mixed cultures. By comparing organoid cultures with and without ALS mutations, he hopes to clarify how other cell types such as microglia, astrocytes, and oligodendrocytes contribute to motor neuron degeneration in ALS.
We are so excited to see more progress and look forward to granting this award again to these deserving young investigators!
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Inaugural ALS Scholars in Therapeutics
In partnership with ALS Finding a Cure (ALSFAC), the Healey & AMG Center for ALS awarded four recipients our inaugural, global two-year ALS Scholars in Therapeutics Award. Read more about the program and the 2021 scholars here. The four scholars are:
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- Juliet Goldsmith, PhD of University of Pennsylvania
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- Matthew Anthony White, PhD of Kings College London
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- Brian Jude Joseph, PhD of Harvard University
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- Su Min Lim, PhD of Massachusetts General Hospital, Harvard Medical School
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TAMBOURINE ALS COLLABORATIVE |
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Selena Davis is one of our summer interns. Selena is currently attending Lexington High School and is entering her senior year. She intends to pursue medicine in the future. Selena finds neuroscience fascinating and has loved learning all the different career paths that include research.
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Mariya Inocentes was born in the Philippines and moved to America about 4 years ago. Mariya is currently attending the University of Massachusetts Boston as a nursing major with the goal of becoming a psychiatric nurse practitioner. Mariya is exploring the many fields of medicine and this summer chose to explore neurology as it is closely related to psychiatry, and because her brother has been diagnosed with neurofibromatosis.
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ALS CARE INNOVATION AND INTEGRATION |
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Our ALS Multidisciplinary Care Team is growing! We would like to introduce the newest members of the clinical team: |
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Lauren Kett, MD, PhD, is a physician investigator who trained as a neurology resident and then Neuromuscular Fellow at Mass General Brigham Hospital. In addition to seeing people with ALS in clinic, Dr. Kett works alongside Dr. Clotilde Lagier-Tourenne doing basic science research looking for the genetic and biological underpinnings of ALS and developing new ways to target these abnormalities.
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Doreen Ho, MD joined us in August 2021 as our newest ALS physician. Dr Ho completed her Neuromuscular Fellowship at Mass General Brigham Hospital and then led the ALS clinic at Lahey Hospital. Doreen is excited to continue to develop her ALS expertise and take a leadership role in clinical trials at the Healey & AMG Center for ALS, and we are thrilled to have her join us!
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Helen Chen, LGC, a genetic counsellor at Mass General, recently joined the clinic and will be working closely with our Genetic Counseling Manager, Diane Lucente. As our knowledge of ALS genetics and our ability to test for more ALS-causative genes grows we are excited to expand our team to help all the people and families we care for.
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We are also expanding the number of research coordinators, nurses, nurse practitioners and patient service coordinators in the clinic. Clinical research and ALS trials is an integral part of our clinic offerings, and our research program continues to grow. We currently have 20 ongoing interventional trials and 9 non-interventional trials. As we continue to grow and expand, Judi Carey, RN, our incredible research access nurse, helps connect people with ALS to the best research participation opportunities for them. To get in touch with Judi, you can email her at jcarey8@partners.org.
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All of our work at the Sean M. Healey & AMG Center for ALS combines outstanding, multidisciplinary care with clinical and basic research informed by the needs of our patients. Philanthropy allows us to accelerate the pace of discovery and make a meaningful difference to our patients. We are determined to find the cures. Your partnership will make this possible.
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