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Cell & Gene Therapy Insights

Cell & Gene Therapy Insights

Issue Vol 4 Issue 7

Editorial

Unique Role of Patient Advocacy Groups in Clinical Development of CGTx for Rare Diseases

Spotlight Article

Editorial

Michelle Berg

Rare Diseases – Clinical & Commercial Developments

We’ve all heard those amazing stories where a tiny-framed mother channels her inner Hulk to lift a car off of her child, or the dad who stands between his children and a wild animal on the attack; each finding superhuman strength and ferocity in spite of incredible, if not impossible odds. These are examples of […]

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Developing Gene Therapy for CEP290-Associated Retinal Ciliopathies

Spotlight Article

Editorial

Hemant Khanna

Rare Diseases – Clinical & Commercial Developments

Dr. Hemant Khanna obtained his Ph.D. in 2001 from the Institute of Genomics and Integrative Biology, University of Delhi, India. His lab investigates molecular and cell biological bases of cilia-dependent photoreceptor degenerative disorders, such as Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA; childhood blindness disorder). His studies have resulted in the development of new therapeutic strategies for both RP and LCA. The Khanna lab uses zebrafish, mouse mutants, human fibroblasts and iPSC-derived tissues as platforms to model and understand human blinding diseases. The Khanna lab is also a member of the Horae Gene Therapy Center and Li Weibo Rare Disease Institute at the University of Massachusetts Medical School (https://www.umassmed.edu/khannalab/).

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Interview

SR-TIGET: Continuing to Drive Enabling Technology Development & Clinical Innovation in Rare Diseases

Spotlight Article

Interview

Alessandro Aiuti

Rare Diseases – Clinical & Commercial Developments

Alessandro Aiuti initially focused his research studying diseases of the coagulation and HIV infection. His research on hematopoietic stem cells (HSCs) led to the discovery of the first chemokine produced by bone marrow cells inducing migration of human HSCs. His current research is focused on pediatric hematology and immunology and specifically on primary immunodeficiencies, genetic diseases of the immune system. He pioneered the successful gene therapy clinical trial for SCID patients that lack adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency. This clinical trial, now completed, introduced a conditioning regimen to favor the engraftment of gene corrected cells and is considered to be among the most important clinical result of gene therapy for genetic diseases. Gene therapy for ADA SCID has been designated as Orphan Drug in Europe and USA. His most recent research with HSCs transduced with lentiviral vectors led to the successful application of therapy for another primary immunodeficiency, Wiskott-Aldrich syndrome.

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The Critical Role of Patient Advocacy Groups in the Development of Rare Disease Gene Therapies

Spotlight Article

Interview

Susan Wilson & Elisabeth Linton

Rare Diseases – Clinical & Commercial Developments

ELISABETH LINTON left her career as a food stylist and consultant to co-found The Sanfilippo Children’s Research Foundation (SCRF) with her husband Randall after their youngest child Elisa was diagnosed with Sanfilippo syndrome in 1998. Through Elisabeth’s leadership almost $8 million has been committed to research worldwide sponsoring over 37 research projects in 6 countries and establishing The Elisa Linton Sanfilippo Research Laboratory at Sainte Justine Children’s Hospital, Montreal Quebec, Canada. The SCRF has funded groundbreaking work that is pushing the field of childhood disability research forward in a significant way—and showing enormous promise for saving lives and easing the difficulties faced by severely disabled Sanfilippo children and their families. Her greatest joy has been raising her children, Jessica, Connor and Elisa with her husband and recently becoming a grandma to Chloe. She is grateful for the support of those who have helped her make a positive impact for Sanfilippo children and their families, and plans to continue the efforts of The SCRF, even in light of Elisa’s passing away Oct. 31st, 2016.

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The Future of Gene Therapy for Rare Eye Diseases

Spotlight Article

Interview

Aniz Girach

Rare Diseases – Clinical & Commercial Developments

Dr Girach

PROFESSOR ANIZ GIRACH qualified as an Ophthalmologist (with a specialty in Retina) and worked in Cambridge (UK). After spending 11 years in the NHS, he joined the pharmaceutical industry with Eli Lilly, focusing on retinal diseases. He has in total 22 years of industry experience in roles with Merck (as their Global Head of Ophthalmology) and Alcon, where he was Vice President of Clinical Development, and ThromboGenics, where he was the Global Head of Ophthalmology/Chief Medical Officer overseeing the development and approval of Ocriplasmin (Jetrea) — a first in class biologic therapy for retinal disease. In addition to an Honorary Professorship at Wills Eye Hospital (Philadelphia, USA), he was recently the Chief Medical Officer at Nightstar Therapeutics, overseeing the development of gene therapies for inherited retinal diseases. He is a member of three Scientific Advisory Boards for international ophthalmic organizations currently, and reviewer for five peer-reviewed journals, including Eye and IOVS. He has edited four books and published over 60 abstracts/manuscripts in peer-reviewed journals in Ophthalmology, with numerous invited lectures at national/international ophthalmology meetings. His special interests are medical retina, vitreomacular interface abnormalities, inherited rare retinal diseases and gene therapy.

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Leukodystrophies: a Patient Advocacy Perspective

Spotlight Article

Interview

Maria Kefalas

Rare Diseases – Clinical & Commercial Developments

Maria Kefalas

MARIA KEFALAS PhD is the co-founder and executive director of the Calliope Joy Foundation, a Philadelphia, PA based charity that advocates for children and families impacted by leukodystrophies. She has published essays about her life caring for her daughter, Callie, who has metachromatic leukodystrophy, in Slate, The Huffington Post, and STAT. Her advocacy for gene therapy was featured on CBS Sunday Morning with Jane Pauley. Ms. Kefalas is writing a memoir titled Investing in Miracles (Beacon Press, forthcoming) about her journey as a parent advocate. Cal is 8 years old and receives hospice care. But thanks to her doctors and nurses, Cal still laughs and smiles every day.

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Advancing the Development of AAV-Based Gene Therapy for Rare Diseases

Spotlight Article

Interview

Suyash Prasad

Rare Diseases – Clinical & Commercial Developments

Prasad

DR SUYASH PRASAD has served as Senior Vice President and Chief Medical Officer of Audentes Therapeutics, a San Francisco-based biotech company, since February 2014. He has a wide range of experience and achievement in international drug development from early pre-clinical stages into clinical trials spanning Phase I to IV, with a specific focus on the development of therapies to treat rare paediatric disorders. Dr Prasad has held positions of increasing responsibility at BioMarin Pharmaceutical, Inc., Genzyme Corporation and Eli Lilly and Company. He graduated in Medicine at the University of Newcastle-upon-Tyne, UK, where he received commendations for Paediatrics, Obstetrics and Gynecology and Medical Ethics. He is a UK board certified physician and is a member of the Royal College of Physicians (MRCP) and the Royal College of Paediatrics and Child Health (MRCPCH). Dr Prasad received his Diploma in Pharmaceutical Medicine from the Royal College of Physicians of the United Kingdom and his Masters in Translational Science from Kings College, London. He is a Fellow of the Faculty of Pharmaceutical Medicine (FFPM) and is a past recipient of the Outstanding Contribution Award from the Faculty of Pharmaceutical Medicine of the UK Royal College of Physicians. Dr. Prasad currently sits on the board of the National PKU Association.

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Expert Insight

Advances & challenges in developing gene therapies for rare kidney diseases

Spotlight Article

Expert Insight

Valeria Padovano & Michael J Caplan

Rare Diseases – Clinical & Commercial Developments

Gene therapy is an enticing therapeutic option for diseases lacking an effective long-term treatment, including not only monogenic diseases, but also complex disorders such as cancer. A number of clinical trials have shown evidence of improved efficacy and safety, mainly due to advances in vector design and delivery systems. Despite the progress made in the field, one of the main challenges for gene therapy is the ability to target specific organs and even specific cell types within an organ. With its complex architecture and variety of specialized cell types, the kidney epitomizes the difficulties encountered in developing therapeutic gene delivery strategies for highly differentiated tissues. In this review, we give an overview of the anatomical aspects that make the kidney a challenging target, explore different delivery routes and discuss attempts made to deliver exogenous DNA to renal cells and to treat renal diseases using non-viral and viral approaches. Although evidence in animal models indicates that gene therapy for renal diseases is possible, its applicability to human diseases requires further research to optimize targeting and vector delivery.

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Gene Therapy for Childhood Cerebral Adrenoleukodystrophy

Spotlight Article

Expert Insight

Christine Duncan

Rare Diseases – Clinical & Commercial Developments

Cellular therapy with allogeneic hematopoietic cell transplantation can stabilize disease and prevent progression in boys with early stage cerebral adrenoleukodystrophy. Gene therapy using modified autologous hematopoietic stem cells is emerging as a potential therapy and possible replacement for allogeneic transplant for children with cerebral adrenoleukodystrophy (ALD). This article examines the role of cellular therapy, allogeneic transplant and autologous gene therapy in boys with ALD. It highlights the published results of two investigations of gene therapy in this setting that show efficacy comparable to allogeneic transplant. Longer term follow-up is needed to fully understand the impact that this new treatment will have on the clinical care of boys with cerebral ALD.

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Gene replacement therapy for hemoglobinopathies: clinical benefit & challenges for widespread utilization

Spotlight Article

Expert Insight

Marina Cavazzana, Annarita Miccio, Isabelle Andre-Schmutz & Fulvio Mavilio

Rare Diseases – Clinical & Commercial Developments

β-thalassemia and sickle cell disease (SCD), the most common genetic disorders worldwide, are caused by mutations affecting quantitatively or qualitatively hemoglobin β-chain production. With the advent of β-globin expressing lentiviral vectors (LVs), transplantation of autologous, genetically modified hematopoietic stem cells (HSCs) holds the promise of eliminating the morbidity and mortality associated with allogenic HSC transplantation and circumventing the need for suitable donors. LV-based gene addition strategies have shown safety and efficacy in both β-thalassemia and SCD patients. Despite these promising results, gene therapy still requires significant development to become standard clinical practice. Here, we discuss several issues that limit the efficacy and the utilization of LV-based gene therapy approaches for β-hemoglobinopathies, such as the source and the quality of HSCs, the choice of the optimal conditioning regimen, the cell manufacturing process and the regulatory framework.

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Research Article
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