Date: September 29, 2017
The NIH’s National Center for Advancing Translational Sciences (NCATS) has launched its new Toolkit for Patient-Focused Therapy Development which provides a vast collection of online resources that can help patient advocacy groups advance through the process of therapy development. The Toolkit includes resources that have been developed primarily for the rare diseases community to facilitate therapeutics R & D. Since early 2016, NCATS has worked with a diverse group of rare diseases community partners to conduct an extensive analysis of available tools. Their hard labor defined, characterized and organized resources in a centralized portal that can be helpful to all patient groups, regardless of how far along in the research and development process they may be.
The new toolkit includes, but is not limited to:
✔ Getting Started that focuses on learning how investigational therapies are developed; why it is important for patients and their advocates to engage throughout the process; and how to build effective relationships with other stakeholders.
✔ Discovery Tools that aid in community organization and the prioritization of activities during the early stages of development.
✔ Preparing for Clinical Trials Tools focused on getting patient communities ready for clinical trials.
✔ Clinical Trials and FDA Review Tools to help connect patients to clinical trials, and to take part in the complex FDA regulatory-review process.
✔ After FDA Approval Tools to help formulate the plan for integrating a newly-approved therapy into clinical care.
Take the time to explore the deep layers of nested links and the information they’ll take you to. NCATS has certainly produced an extremely useful, high-quality tool! What this new tool needs now — is for thousands of members of the rare diseases community to USE IT!
Date: September 14, 2017
The University of Pennsylvania Orphan Disease Center’s 2017 Million Dollar Bike Ride Pilot Grant Program is now open! The Million Dollar Bike Ride (MDBR) Pilot Grant Program will provide a one-year grant to support research related to a rare disease represented in the 2017 Million Dollar Bike Ride. All individuals holding a faculty-level appointment at an academic institution, or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA. Interested applicants must first submit a Letter of Interest (LOI), which is done by completing a brief online form, and uploading a 1‐page Pre‐Application. This LOI is due by Monday, September 18, 2017 by 8:00 p.m. EST. Full grant applications are accepted by invitation only after LOIs are approved.
The following lysosomal diseases were represented in the 2017 Million Dollar Bike Ride last May in Philadelphia, and their available grants are detailed:
Mucolipidosis Type IV (ML4): One $71,939 pilot grant available. This grant is offered to investigators conducting research on all aspects of ML4 disease, including disease pathogenesis and clinical studies. Preference will be given to those research projects developing new therapies for ML4, and translational research projects that improve our understanding of the disease state and pathogenesis, such as identifying biomarkers or functional outcome measures to assess therapeutic impact. This grant is made possible by the intrepid riders of Together4Ido, TeamCureML4, Climb4Carin, Pedal4Paul, Danny4theGirls, and MayaanHikes4Meira.
Mucopolysaccharidoses (MPS): Two $59,449 pilot grants are available. Applications directed to treating the central nervous system manifestations or enzyme replacement therapy antibody responses are sought. These two grants are made possible by Team MPS, the National MPS Society, and The Ryan Foundation.
Niemann Pick Type C (NPC): Two $49,645 pilot grants are available. Consideration will be given to research projects developing new therapies for NPC, as well as those designed to complement therapies presently in the pipeline. Consideration will also be given to gene therapy proposals; studies focused on problems, including psychiatric issues, impacting quality of life through the lifespan of the patient population; and projects that improve our understanding of the biology, pathogenesis and disease state and that have a direct impact on translation of new treatments to patients. These two grants are made possible by Team NPC, the Andrew Coppola Foundation, Jammin’ for JP, Chase the Cure and iPedal4Chad.
Tay-Sachs, Sandhoff, GM-1, or Canavan Disease: One $42,419 pilot grant is available focusing on forms of Tay-Sachs, Sandhoff, GM-1, or Canavan disease. Proposals are solicited for innovative research projects that involve basic research, translational studies or clinical studies relevant to these diseases. Projects may be focused on (1) pre-clinical and clinical research needs, such as clinical outcome measures, registries, animal models, or biomarkers; or (2) technology approaches such as stem cells, molecular chaperones, substrate inhibitors, small molecule drug screening, gene therapy, or novel drug delivery to the brain. This grant is made possible by Team NTSAD and the National Tay-Sachs & Allied Diseases Association.
Questions regarding the scientific content of potential research projects can be directed to Monique Molloy; administrative queries should be sent to Samantha Charleston at the University of Pennsylvania’s Orphan Disease Center.
Date: August 14, 2017
The AAN has launched an ambitious research program, furthering their commitment to make a profound difference in the lives of researchers and patients. Applications are now open for the 2018 awards. Among the opportunities is the ‘Neuroscience Research Training Scholarship‘ that provides $75,000 over two years. The award is designed for basic and translational research proposals in neurology, and eligible applicants will have completed residency or a PhD no more than five years prior to the beginning of the award. Also included is the ‘Clinical Research Training Scholarship in Neuromuscular Disease‘ that provides $55,000 per year for two years, plus a $10,000 per year stipend to support education and research-related costs, for a total of $130,000. The AAN stated “NIH funding for neurologic research has remained the same for the last four years and competition for NIH funds has intensified. The increase in the AAN fellowships has kept the dream alive for many of our clinician-researchers. AAN recipients have gone on to receive NIH funding at record levels. These awards are the first step to a broader base of support.”
Date: July 14, 2017
Updated on August 25, 2017
Nominations for the newly-renamed Roscoe O. Brady Award opened on July 14, 2017. The Award is presented annually to recognize substantial contributions to lysosomal disease research and therapy. The Award will be presented at WORLDSymposium™ 2018 at the opening session on Tuesday, February 6, 2018 at 7:45 a.m. The 14th Annual WORLDSymposium™ convenes February 5–9, 2018 at Manchester Grand Hyatt San Diego hotel in San Diego, California. The nominations deadline was August 15, 2017.
Nominations are also being accepted for the Patient Advocate Leader (PAL) Award, which will be presented at WORLDSymposium™ on Wednesday morning, February 7, 2018, prior to the Keynote Speaker. This Award recognizes individuals contributing directly to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs. The nominations deadline was also August 15, 2017.
Date: July 14, 2017
Updated on August 25, 2017
Each year, trainees and recent doctoral graduates are encouraged to apply for WORLDSymposium’s Young Investigator Award that provides a partial scholarship to attend WORLDSymposium™. New this year: To increase opportunities for basic scientists to present their research, WORLDSymposium™ is offering ten (10) Young Investigator Awards specifically for Basic Science Abstracts. Graduate students and those who are within the first 3 years after completing a graduate degree are eligible. Those who submit an abstract as the first-author will be considered eligible for the award, and will be selected by the Program Committee on the basis of the content of the abstract. Abstract Submissions for the 14th Annual WORLDSymposium™ opened on July 1, 2017. The Program Committee will select awardees from the first authors of abstracts submitted by the October 1, 2017 deadline. All eligible applicants will be notified by November 15, 2017 of the status of their application for the award. The Young Investigator and New Treatment Award presentations will occur at 5:15 p.m. on Monday, February 5, 2018. This will be followed by a WORLDSymposium™ opening reception in the exhibit hall at 5:30 p.m.
Each year, the National MPS Society awards deserving medical researchers grants to pursue treatments and cures for mucopolysaccharidosis (MPS) diseases and mucolipidosis II and III (ML II / ML III). In 2016, the MPS Society awarded $485,000 in grant funding. Since 1999, nearly $7 million has been awarded to MPS and ML research.
The 2017 research grant program is now open. Letters of intent (“LOI”) are due on or before May 20, 2017, and grants will be funded in the third quarter of 2017. 2017 grant opportunities include:
• ANY MPS syndrome — $90,000 ONE grant (2-year distribution)
• MPS I (Hurler syndrome) — $60,000 ONE grant
• MPS II (Hunter syndrome) — $50,000 ONE grant
• MPS III (Sanfilippo syndrome) — $50,000 ONE grant
• MPS IV (Morquio syndrome) — $50,000 ONE grant
Date: March 28, 2017
Christine Lavery, MBE, Group Chief Executive of the MPS Society in the United Kingdom, has sounded the alarm about the National Institute for Health and Care Excellence’s recently-announced plan to change the arrangements for evaluating and funding drugs and other healthcare technologies assessed through NICE’s Highly Specialized Technologies (“HST”) appraisal. From April 1, 2017, NICE plans on the introduction of a £100,000 quality-adjusted life year (“QALY”) threshold for medicines evaluated via NICE’s HST program, which assesses treatments for ultra-rare diseases.
The MPS Society in the UK has responded to this plan by pointing out that this threshold will effectively stop the flow of new medicines reaching patients with ultra-rare and complex diseases. Many treatments for ultra-rare conditions that are currently funded by NHS England have costs per QALY of more than £500,000, including the three medicines that have been approved by NICE’s HST process to date. The MPS Society states that QALY thresholds are not appropriate for evaluating medicines for ultra-rare diseases, due to the small patient populations, and often limited data.
Christine Lavery said, “Being born with an ultra-rare disease, a disease affecting less than 110 people in England, is not a lifestyle choice; it is no one’s fault; it happens albeit very rarely; it happened to my son. At that time, there was no treatment and Simon died aged 7 years. I can only imagine now how it might be, to be faced with a child with an ultra-rare disease who could be treated with a highly-specialized medicine, but is denied treatment on cost grounds. The pain for the family of seeing their child condemned to death by Andrew Dillon, Chief Executive of NICE; Simon Stevens, Chief Executive of NHS England; and the UK Government, is unimaginable. Let us also be clear to Members of Parliament, many of the babies and children who will be affected by this catastrophic decision are ‘yet to be born or diagnosed’ members of your constituencies.”
MPS Society Chairman Paul Moody said, “A decision by NICE and NHS England to implement this new policy . . . will affect the most vulnerable in UK society, and confirms that children and young adults with ultra-rare diseases going forward are economic pawns in a failing NHS, and cheaper dead than alive. The UK government now needs to act at lightning speed and reverse this initial NICE & NHS England policy, not just in the context of patients with ultra-rare diseases, but also that of the life sciences industry, who will see no incentive to investing in the UK market if their innovative medicines and technologies have no prospect of reaching the patient.”
Date: March 22, 2017
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.
Date: November 16, 2016
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.
Date: November 16, 2016
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.
Date: October 5, 2016
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.”
Date: August 3, 2016
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.
Date: July 18, 2016
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.
Date: Feb 17, 2016
The Secretary from the Department of Health and Human Services has provided final response to the ACHDNC for both X-ALD and MPS type I. She has agreed with the ACHDNC and has added both to the recommended uniform screening panel (letters here and here). The Minnesota Commissioner of Health will be notified as well so that this information can be used while he deliberates the recommendations made at the October meeting. This means that Minnesota, and a number of other states, will have the mandate to add MPS I to the newborn screening panel, each child born in the state being screened as a newborn infant.