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Free Diagnostic Carrier Screening for Niemann-Pick Disease Types A & B

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The Quinn Madeleine Foundation, an LDN-affiliated patient advocacy group, has partnered with the Golden, Colorado-based diagnostic laboratory company Baby Genes Inc. to provide diagnostic carrier screening at no charge to hundreds of people impacted by acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A & B, which are severe lysosomal diseases. Niemann-Pick disease type A (NPA) is always fatal by toddlerhood. Providing free access to this test will enable prospective parents to make the best, most informed decisions in their family planning.

The diagnostic carrier screening program is currently open to any family member of an affected child, though it intends to go further in the future. “The long-term goal is to consider the possibility of an ethnicity pattern, identifying a higher-risk general population, and offering more widespread screening,” says Eileen Linzer, Co-Founder & Executive Director of The Quinn Madeleine Foundation. Family members screened are therefore also asked to complete an optional, self-reported “Ethnicity Survey” to assist in this research.

Penn Medicine Orphan Disease Center Grants!

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The Penn Medicine Orphan Disease Center at the University of Pennsylvania in Philadelphia has announced the recipients of the “2016 Improved Therapies for MPS I” pilot grants. They include two Lysosomal Disease Network physician-researchers: Igor Nestrasil, MD, PhD and Raymond Wang, MD:

• Igor Nestrasil, MD — University of Minnesota
Discovery of brain MRI signatures in infants with severe form of MPS I in the pre-HSCT and post-HSCT stage

• Raymond Wang, MD — CHOC Children’s Hospital (Orange County, California)
Intra-articular Gene Therapy for Canine Mucopolysaccharidosis Type I Joint Disease

• Joseph Anderson, PhD — University of California, Davis
Alpha-L-iduronidase Delivery via Human CD34+ Hematopoietic Stem Cells

Research is the Only Way Forward!

• Kim Keeling, PhD — University of Alabama at Birmingham
Identify Drugs to Treat MPS-IH Caused by Nonsense Mutations

• Lachlan Smith, PhD — University of Pennsylvania
Novel therapies to improve bone formation in Mucopolysaccharidosis I Dogs

• Drew Weissman, MD, PhD — University of Pennsylvania
Nucleoside modified mRNA therapy for MPS I

• Carmine Settembre, PhD —
Telethon Institute of Genetics and Medicine (Pozzuoli, Italy)
Modulation of autophagy to treat skeletal features in MPS I

Congratulations to these brilliant researchers!

Dr. Elsa Shapiro Announced as Keynote Speaker at Worldsymposium 2017

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WORLDSymposium has announced that Elsa Shapiro, PhD, Professor of Pediatrics and Neurology in the Division of Pediatric Behavioral Neuroscience at the University of Minnesota, is the 2017 Keynote Speaker. Dr. Shapiro’s address is entitled “Understanding and Measuring Neurodegeneration in Childhood Onset Lysosomal Diseases.” Dr. Shapiro will present the keynote address at 7:45 a.m. on Wednesday, February 15, 2017.

Consensus Conference to Convene for Cognitive Endpoints in MPS I, MPS II and MPS III

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Elsa Shapiro, PhD, neuropsychologist and expert in rare pediatric diseases; Mark Dant, president and CEO of the National MPS Society (USA); and Christine Lavery, executive director of the Society for Mucopolysaccharide Diseases in the UK, have planned a program to bring experts together from around the world to establish a consensus for cognitive endpoints in MPS I, MPS II and MPS III. Such endpoints are absolutely essential for conducting clinical trials of potential treatments. The consensus conference will be held December 1-3, 2016 in London.

With support from 18 pharmaceutical companies, more than 80 doctors and psychologists from countries around the world will attend, including China, Egypt, Australia and Japan. The U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) are sending representatives who will present. The consensus proceedings and the selected consensus panel comprised of experts in MPS, statistics and psychological assessments will be facilitated by J.H. van der Lee, MD, PhD, of the Academic Medical Center, Amsterdam, Netherlands. Participants also include the Lysosomal Disease Network’s Dr. Chester Whitley, Dr. Igor Nestrasil and Dr. Julie Eisengart, all of the University of Minnesota. A paper will be published documenting the outcome.

The Batten Disease Support and Research Association’s 2016 Research Grants have Been Awarded

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The Batten Disease Support and Research Association (BDSRA) is pleased to announce its 2016 research grant awardees. BDSRA have partnered with BDSRA-Australia, Drew’s Hope, Noah’s Hope-Hope4Bridget, Beyond Batten Disease Foundation, and the Thisbe and Noah Scott Foundation to co-fund these important projects.

Background: The BDSRA annual research-merit review cycle begins in November of each year. Through a ‘Request for Letters of Intent’ that will be issued later this year, interested researchers are invited to submit a letter of intent (LOI) outlining the research they want to conduct. For the upcoming call for LOIs, BDSRA seeks innovative research projects that have the potential to advance therapeutic strategies for all or any of the neuronal ceroid lipofuscinoses. Each award, depending on funding availability, will be no more than $60,000 for a one-year period. Those candidates receiving the highest scores are asked to offer full proposals, which are then reviewed by a panel of three scientists. The top proposals are forwarded to the BDSRA board for approval and funding. Put the BDSRA on your radar this autumn, if you have some innovative research you are thinking of proposing.

The 2016 BDSRA research grant awardees include:

• Rebecca Whiting, The University of Missouri, “Sustained TPP1 enzyme delivery for the treatment of CLN2 disease using genetically modified autologous stem cells,” $55,000.

• Imke Tammen and Dr. Christopher Grupen, University of Sydney, Australia, “Generation of a sheep model of Batten disease using the CRISPR/Cas9 genome editing system,” $50,000.

• Marco Sardiello, Baylor College of Medicine, “mTOR-independent lysosomal enhancement for the treatment of neuronal ceroid lipofuscinoses,” $30,000.

• Tammy Kielian, The University of Nebraska Medical Center, “Link between ‘danger signals’ and inflammasome activation in the pathogenesis of juvenile Batten disease,” $40,000.

• Stephanie Hughes, University of Otago, New Zealand, “Cross-correction in CLN6 Batten disease,” $40,000.

• Jacob Cain, Sanford Research, “Determining the neuronal specific mechanisms of CLN3 in juvenile neuronal ceroid lipofuscinose,” $45,000.

• Taina Autti, University of Helsinki, Finland, “Advanced diffusion MRI in Batten disease (CLN3): white matter microstructure and brain connectivity,” $50,000.

• Steven Gray, University of North Carolina, Chapel Hill, “INCL gene therapy using AAV9 vectors,” $30,000.

• Jonathan Mink, University of Rochester Medical Center, “BDSRA Registry,” $30,000. Dr. Mink has also been a Lysosomal Disease Network researcher, with his LDN #6717 study entitled “Clinical and Neuropsychological Investigations in Batten Disease.”

New Peer-Reviewed Article Examines a Burgeoning U.S. Stem Cell Treatment Marketplace

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In a currently in-press (and online) article entitled Selling Stem Cells in the USA: Assessing the Direct-to-Consumer Industry in the journal Cell Stem Cell, authors Leigh Turner and Paul Knoepfler “found 351 U.S. businesses engaged in direct-to-consumer marketing of stem cell interventions offered at 570 clinics.” In a careful examination of marketing claims used by these 351 businesses, they found that “U.S. businesses promoting stem cell interventions claim to treat a wide range of diseases and injuries, as well as advertising stem cells for cosmetic applications, “anti-aging,” and other purposes.” In addition to “relatively specialized marketplace niches” such as cosmetic surgery clinics and orthopedic and sports medicine clinics advertising stem cell treatments, “other clinics take a much broader approach and list stem cell interventions for 30 or more diseases and injuries. Such businesses commonly market treatments for neurological disorders and other degenerative conditions, spinal cord injuries, immunological conditions, cardiac diseases, pulmonary disorders, ophthalmological diseases and injuries, and urological diseases as well as cosmetic indications.” The authors wrote that “Many of these marketing claims raise significant ethical issues given the lack of peer-reviewed evidence that advertised stem cell interventions are safe and efficacious for the treatment of particular diseases. Such promotional claims also generate regulatory concerns due to apparent noncompliance with federal regulations.”

They found many instances of stem cell marketing claims directed not at potential patients themselves, but at patients’ caregivers or parents. These included specific marketing claims for stem cell treatments for Parkinson’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis, autism, cerebral palsy, and muscular dystrophy. They found that marketing claims are being asserted for these and “many other conditions for which there is no established scientific consensus that proven safe and efficacious stem cell treatments now exist.” The authors’ concerns are that “This kind of advertising reveals another tangled knot of ethical and legal concerns, as the apparent target audience for such marketed interventions is not adults with decision-making capacity but rather the parents or guardians” of potential patients.

The authors’ in-depth examination of the online information provided by each of the companies they identified led them to conclude that “. . . there are clear grounds for concern that some of the companies we found are not compliant with federal regulations. There are related ethical concerns about information provided to prospective clients and the veracity of marketing claims, the safety and efficacy of advertised procedures, and the risk of physical, emotional, and financial harm to already ill or injured and vulnerable individuals.”

The International Society for Stem Cell Research offers a free downloadable .pdf Patient Handbook on Stem Cell Therapies that is available in English, Dutch, French, German, Italian, Portuguese, Spanish, Turkish, Persian and Japanese.

The REGROW Act, sponsored by Senator Mark Kirk (IL) (U.S. Senate HELP Committee markup (“Amendment 1; document BOM 16344″)), was noted by the authors as “an example of the current push . . . for lowering safety and efficacy standards for adult stem cell-based interventions.” The National Organization for Rare Disorders (as well as the Cystic Fibrosis Foundation, the Friedreich’s Ataxia Research Alliance, the Friends of Cancer Research, Global Genes, the Michael J. Fox Foundation for Parkinson’s Research, the Myotonic Dystrophy Foundation, the National MS Society, the National Patient Advocate Foundation and the Prevent Cancer Foundation) expressed opposition to this proposed legislation (as it is currently drafted) in a letter to Senator Kirk dated May 24, 2016. They wrote, in part, “We are concerned that the REGROW Act as currently drafted could compromise patient safety by providing “conditional approval” to products that simply show “preliminary clinical evidence of safety” as part of Phase I and Phase II trials. We are troubled that these provisions establish a new approval standard that is potentially lower than existing standards. By allowing products to be marketed as approved therapies, this implies to patients a high level of approval which is not warranted given the current requirements in the bill. We believe this proposed legislation may result in grave consequences for patients.”

Interested readers are encouraged to read the authors’ report of their extensive study of this public health issue. The authors highlight many additional aspects not mentioned here.

New Developments in Farber Disease Research

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Enzyvant Sciences is a new pharmaceutical company that is the product of two companies: Roivant Sciences and Plexcera Therapeutics, LLC. They have formed this joint venture to focus on the treatment of Farber disease, one of the lysosomal diseases.

At Enzyvant Sciences, it is thought that the recombinant human acid ceramidase (rhAC) program will benefit from the continued involvement of the experienced medical and scientific team from Plexcera, while gaining the pharmaceutical development expertise and financial support of Roivant. Developed in the lab of Professor Edward Schuchman, MPh, PhD, the enzyme replacement therapy rhAC showed promising results in a mouse model of Farber disease. It was initially licensed by Mount Sinai Innovation Partners, part of the Icahn School of Medicine at Mount Sinai, to Plexcera Therapeutics, LLC, prior to the formation of Enzyvant.

rhAC is based on more than 20 years of research conducted by Dr. Schuchman and Erich Gulbins, PhD, from the Center for Medical Biotech at the University of Duisburg-Essen, Germany. Dr. Gulbins identified a central role for excess ceramide accumulation in cystic fibrosis and some other pulmonary diseases. rhAC may eventually be put to other therpautic uses in addition to Farber disease. Dr. Schuchman’s laboratory has been studying the biology of lysosomal enzymes, genes and diseases for more than 25 years, achieving a number of breakthroughs towards the development of novel therapies for lysosomal disorders. For example, Dr. Schuchman’s team was the first to isolate genes encoding lysosomal enzymes linked to Niemann-Pick disease types A and B, mucopolysaccharidosis type VI (MPS VI), and Farber disease.

Dr. Edward Schuchman said, “I am very excited about the future of rhAC. Similar to other enzyme replacement therapies, rhAC has the potential to be a transformative therapy for patients afflicted with Farber disease, a population with clear unmet medical needs.” Dr. Schuchman is Francis Crick Professor of Human Genetics and Vice Chairman of Research, Department Of Genetics and Genomic Sciences; and Professor, Department of Gene and Cell Medicine, at the Icahn School of Medicine at Mount Sinai in New York City. Dr. Schuchman will continue to play an integral role in the development of rhAC. Dr. Schuchman is on Plexcera’s Board of Directors and owns an equity interest therein.

Background information: Enzyvant Press Release, background information, earlier background information.

FDA to Spend $2M on Rare Disease Research

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The U.S. Food and Drug Administration (FDA) is making $2 million available in new research grants to fund natural history studies in rare diseases. The aim is to collect data on how specific rare diseases progress in individuals over time. This knowledge can inform and support drug product development and approval. This will be the first time the FDA will provide funding through its “Orphan Products Grants” to conduct natural history studies for rare diseases.

Natural history is the course a disease takes in affected individuals from the time immediately prior to its inception, progressing through a pre-symptomatic phase and different clinical stages, to a final outcome in the absence of treatment. This type of information is often not available, or incomplete, for many rare diseases, and this makes the drug-approval process additionally difficult.

The funding levels and duration of these grants will include:

● A maximum of $400,000 in total costs per year for up to five years for prospective (looking forward) natural history studies involving clinical examination of affected individuals.

● A maximum of $150,000 in total costs per year for up to two years for retrospective (looking back) natural history studies (i.e., chart review) or survey studies (i.e., questionnaire).

Grant applications are due not later than Oct. 14, 2016. All responsive applications will be reviewed and evaluated for scientific and technical merit by a panel of rare disease and natural-history experts. The anticipated start date of funding for grantees is March 2017.

Visit: FDA press release about $2m in new grants for natural history of rare diseases

$2,500 Scholarships — Applications Due!

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Pharmaceutical company Sanofi Genzyme established the “Chart Your Own Course” scholarship program as a way to help members of the lysosomal disease community make their educational dreams a reality. This program awards fifteen scholarships of $2,500 each to students living with a lysosomal disease who demonstrate the drive and commitment to charting their own course in life, despite the obstacles they may sometimes face. Applications are due and must be postmarked by June 17, 2016! Sanofi Genzyme relies upon an independent, experienced review committee that will select fifteen winners based on a variety of criteria, such as academic achievement, personal statements, financial need, and more.

Anyone diagnosed with a lysosomal disease, regardless of treatment status, who is a U.S. citizen or legal and permanent U.S. resident may apply. Applicants may be of any age, but must be high school graduates (or soon-to-be graduates), or GED® credential holders, who are either currently enrolled or planning to pursue further education on a full-time basis at an accredited college, university, vocational or trade school. Non-traditional students are encouraged to apply. Winners will be announced in July, and awards will be processed in August 2016. If you have questions concerning eligibility, transcripts or financial requirements, please call Sanofi Genzyme at 507-931-1682 and ask for the “Chart Your Own Course” Program Manager. The downloadable application and much more information can be found at: Chart Your Own Course.