Quarterly Updates From the Center for Rare Neurological Diseases (CRND) November 2022

Welcome to Quarterly Updates from the CRND! Our goal is to provide patients, families, caregivers, staff, and the community at large with current news and resources about the rare diseases we treat. While this month's focus is on adrenoleukodystrophy (ALD), our community includes many diseases that we will highlight in the coming newsletters. We look forward to amplifying the patient voice and spotlighting the CRND's collaborative and innovative research. Thanks for reading!

News and Events FDA Approval of Gene Therapy for CALD ALD Connect's Annual Meeting and Patient Learning Academy is next week! It is not too late to register to join virtually on November 11th and 12th. NEW! Boston Refsum Center of Excellence to support patients with Refsum Disease. Arrivederci ALD Donation Through the generosity of friends, family and partnership with Nation's Best, Arrivederci presented the lab with $50,000 in April 2022 and commemorated a gift of $100,000 from 2020. A golf tournament sponsored by Nation's Best to benefit Arrivederci ALD and ongoing research was held in Dallas, Texas in early October. Pictured below are Frani Broussard Denenburg, researchers Yi Gong and April Qian, Oliver Denenburg, and Dr. Florian Eichler. Meet the Team at the CRND! Each quarter CRND team members will be highlighted. This month we introduce you to the Clinical Research Coordinators. Melissa Bambery is a Clinical Research Coordinator who was recently awarded the MGH Clinical Research Day Team Science Award for research entitled Virtual Reality Testing to Assess Cerebral Visual Impairment in X-linked Adrenoleukodystrophy​. She and co-authors (M. Bambery, C.S. Corre, A. Nagy, C. Becker, C. Manley, D. Kelly, C. Bennett, L. Merabet, F. Eichler​) were acknowledged for their collaborative work with MGH Neurology, Massachusetts Eye and Ear Ophthalmology, Harvard Medical School, and the University of Rochester School of Medicine and Dentistry. She presented her work at the Child Neurology Society's Annual Meeting in Cincinnati in October. Read more about Melissa and the rest of the CRC team here! Message from Dr. Florian Eichler Hello to patients, caregivers, families and friends, We at the CRND are thrilled to launch our first newsletter to share not only what we are working on, but a bit about the people doing the work as well. It is my priority to focus on the community that is ever evolving and the voice of patients within the community. I value the partnerships we have with patient advocacy groups and my fellow clinicians as we unite in one goal: to cure the diseases that are devastating the lives of our patients and families. Related to the FDA Approval of Gene Therapy for CALD, I am encouraged that the landscape of treatment is changing for the better. With continued efforts to expand newborn screening across the United States, I am hopeful and remain determined to continue to find ways that science can help treat rare neurological diseases. Thank you for reading and be well, Florian Eichler, MD Learn more about Dr. Eichler's work with ALD patients here: ALD: Gene Therapy and the Gift of a Future Awareness Months We will highlight disease awareness months and share resources to learn more. September was Leukodystrophy Awareness Month, Tay-Sachs Awareness Month and Vanishing White Matter Disease Month October was Canavan Disease Month November is Adrenoleukodystrophy (ALD) Awareness Month Read more here.

Patient Spotlight

Meet Demitri! Demitri was diagnosed with ALD following his younger brother’s positive newborn screen in 2018. He began treatment for adrenal insufficiency right away and began regular monitoring with MRIs every six months; happily, his early MRIs were clear. In April of 2021, his regular MRI showed the start of a lesion. Initially, the gene therapy trial was full and would not be an option, so he underwent HLA testing and, against all odds, had a 12/12 match. A couple of weeks before he was supposed to be admitted, a spot opened on the ALD gene therapy trial. As there would be no risk of graft-versus-host disease (GVHD) and a faster recovery time, his medical team and his parents felt this was the better option for him. READ MORE ABOUT DEMITRI'S STORY

Innovative Research at the CRND

Yi Gong, PhD, is a powerful force at the CRND. Her work is central to the success of finding treatments that help our rare disease patients. She is passionate about her efforts as captured in this recent innovation story: The Painstaking Path to the Cures 

Opportunities to work at the CRND

We are a growing community and are committed to training the next generation of clinicians in gene therapy modalities and treatments for rare disease. The following are openings at the CRND: MGB Neurogenetics and Gene Therapy Fellowship Clinical Research Coordinator I Clinical Research Coordinator II If you have questions, please email Program Director, Christie Higuera at chiguera@mgh.harvard.edu

‌ ‌ ‌ For more updates from the MGB Neurology Department follow us on social media! Please send suggestions for CRND Quarterly Updates to Program Director, Christie Higuera at chiguera@mgh.harvard.edu