Ongoing Sanfilippo Syndrome Type A (MPS IIIA) Gene Therapy Clinical Trial Enrolling Patients

Abeona Therapeutics, Inc. is enrolling patients in a Phase I/II non-randomized, open-label clinical trial studying a one-time gene therapy for Sanfilippo syndrome type A (MPS IIIA). They have entitled this study ‘The Transpher A Study.’ Caregivers interested in enrolling their children can visit to take an eligibility survey and learn more about the study. Additional details can be found at under study number NCT02716246 or by contacting

Enroll in the LDN’s Gaucher Disease Research Study

Study Locations: University of Minnesota in the Twin Cities; and New York University in New York City.

The search is on for Gaucher disease patients who fit the eligibility criteria for the Lysosomal Disease Network’s ongoing research study entitled “Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications.” (The Rare Diseases Clinical Research Network will make every effort to enroll all the patients it can, but it cannot make any guarantees that it will be able to enroll everyone in a particular study who wants to participate.) Many details about this study can be found at under its study number NCT02583672.

Briefly, the purpose of this study is to measure blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with type 1 Gaucher disease (“GD1”). The investigators want to learn if these levels are abnormal in patients with GD1. They will also examine if there is a change in these blood and brain chemicals in GD1 patients after treatment with orally-administered N-acetylcysteine (“NAC”). NAC is available both as a prescription medication and as a “natural supplement” product in some retail markets. NAC has antioxidant and anti-inflammatory effects, and has been used for many years for the treatment of lung diseases, such as chronic obstructive pulmonary disease, and cystic fibrosis. The findings from this study may add to our understanding of how Gaucher disease causes tissue damage, and may lead to better treatment options for GD1.

The principal investigator of this study is Reena Kartha, PhD, located at the University of Minnesota in the Twin Cities. To see if you may be eligible to participate, first read the entry at, and after that, you may e-mail your questions to Dr. Kartha at the University of Minnesota. Thank you for your time and consideration!

Funded Rare Disease Clinical Research Training Program

“Rare Opportunity for Young Researchers”

The Rare Diseases Clinical Research Network (RDCRN) annually offers early-career rare disease researchers this excellent training and networking opportunity. This is available to researchers associated with one of the RDCRN’s research consortia. (The Lysosomal Disease Network is one such RDCRN consortium.) The Rare Diseases Training Program is recruiting for the 2019 – 2020 academic year. More information about the Rare Diseases Training Program, as well as the form to complete and submit as part of your application, are available by clicking on the download link on this web page (scroll down). The Rare Disease Clinical Research Training Program accepts applications and sends-out acceptances on a rolling basis.

This academic-year-long course consists of both in-person and remote sessions providing the tools and mentoring needed for a successful career in rare diseases clinical research. Topics include: statistics in small populations, interactions with industry and pharmaceutical companies, successful grant writing, working with patient and family advocates and groups, research career design and planning, and successful publishing in the field of rare diseases.

Participation requires a 10% time-commitment from the applicant’s program chair or department chair for the applicant’s dedicated, focused research time. In addition, the program requires: two 2-day trips to the Washington, D.C. area; two 1-hour webinars per month; completion of a mentored research project with culmination in a poster presentation at the Fall 2020 RDCRN meeting in the Washington, D.C. area; and about 4 hours of projects/reading per month for preparation. Certificates will be awarded to participants completing at least 75% of the course content at or above acceptable levels. The first 2-day trip to the Washington, D.C. area will occur October 21-22, 2019.

Twenty competitive participants will be awarded a “funded” position. This funding will provide $1,000/year reimbursement towards attending the two 2-day trips to the Washington, D.C. area. Applicants can apply for the funded program (the “travel group”), while also indicating that they wish to be considered for the unfunded program if not chosen for funding. Up to twelve additional unfunded positions are available to excellent applicants this year.

Applicants are requested to submit the following: the completed downloadable application form (scroll down); their CV; and a letter of commitment from their supervisor supporting their participation in this Training Program, as well as offering to support any costs that exceed the reimbursed costs (if any) of participation in this Training Program.

Sanfilippo Syndrome type A (MPS IIIA) Gene Therapy Trial is Enrolling Participants

Lysogene is excited to announce the launch of its phase 2-3, single-arm trial to assess the efficacy of direct-to-CNS delivery of LYS-SAF302 in improving or stabilizing the neurodevelopmental status of MPS IIIA patients.

The search is on for MPS IIIA patients who fit the eligibility criteria for this trial, which is entitled “Multi-Center Study of AAVrh10-h.SGSH Gene Therapy in Patients with MPS IIIA (AAVance).” Details are available on under its study number NCT03612869, or contact:

New Conclusions about Fabry Patients and White Matter Lesions

A research team led by Simon Körver of Amsterdam Academic Medical Center, University of Amsterdam’s Department of Endocrinology and Metabolism, has conducted and published in-depth analyses of forty-six published research studies that included the results of brain MRI investigations in 1,276 Fabry disease patients. These research studies were identified using Pubmed, EMBASE and CINAHL databases dated from inception to February 15, 2018. The researchers assessed the prevalence, severity, location and course of white matter lesions in these Fabry disease patients. Prevalence and severity were assessed for all patients combined, as well as divided by gender. They systematically reviewed the studies’ evidence on the relation between white matter lesions, disease characteristics, and clinical parameters.

One of their findings is that men and women showed comparable prevalence and severity of white matter lesions. Males, however, were significantly younger at time of white matter lesion assessment. Follow-up brain MRI in both men and women 38 months later revealed white matter lesion progression in 24.6% of patients, with and without enzyme replacement therapy, but at an earlier age in men.

Among their conclusions is that a significant group of Fabry disease patients has substantial white matter lesions, and male patients develop white matter lesions earlier compared to female patients. They suggested that future studies should focus on longitudinal brain MRI follow-up using state-of-the-art imaging techniques. They also suggested a clinical focus on the consequences of white matter lesions in Fabry disease patients. The article dives deeply into the details of their important findings.

Collaborations Pharmaceuticals Inc. Receives Funding from NINDS to Partner with Washington University on Batten Disease

National Institute of Neurological Disorders and Stroke (NINDS) at NIH has awarded $229,560 to Collaborations Pharmaceuticals Inc of Raleigh, NC to initiate a project at Washington University (St. Louis, MO) aimed at developing an enzyme replacement therapy to treat infantile Batten disease, also known as CLN1. The company will partner with Batten disease researcher Jonathan Cooper, PhD, Professor of Pediatrics at Washington University School of Medicine.

This treatment approach, originally funded by Taylor’s Tale (an LDN-affiliated patient advocacy group) and NINDS, began in the lab of Sandra Hofmann, MD, PhD, at the University of Texas Southwestern (Dallas, TX). Supported by these funds, Dr. Hofmann and her research team performed extensive development of the protein as well as pre-clinical assessment. Taylor’s Tale, a 501(c)3 public charity based in Charlotte, NC, funded Dr. Hofmann’s work beginning in 2007.

Moving forward, Collaborations Pharmaceuticals Inc will further develop the PPT1 enzyme, setting the stage for future clinical studies of this potential treatment for CLN1. In 2017 Collaborations Pharmaceuticals Inc received Orphan Drug Designation from the FDA for this PPT1 enzyme.

Collaborations Pharmaceuticals Inc is led by CEO Sean Ekins, PhD, who is also the President, CEO, and co-founder of Phoenix Nest, Inc.

The 2019 Sue Rosenau Legacy Award Winner!

The Legacy of Angels Foundation, which vigorously supports research into treatments and a cure for Krabbe disease and Cystic Fibrosis, and works to promote the expansion of newborn screening, announces the recipient of the 2019 Sue Rosenau Legacy Award. The award was created to honor the late Co-Founder and Chief Operating Officer of The Legacy of Angels Foundation, Sue Rosenau. This remarkable woman died on July 31st, 2018. To keep Sue’s legacy alive within the Foundation and community at large, The Legacy of Angels Foundation honors an individual for his\her achievements in Sue’s name each year. This legacy award recognizes an inspirational leader who has delivered extraordinary contributions, worked to propel progress towards a better treatment, and continuously gives altruistic support to the patient community; a replica of Sue Rosenau.

This year’s recipient is Dr. David A. Wenger, PhD, Director of the Lysosomal Disease Testing Laboratory at Sidney Kimmel Medical College (formerly Jefferson Medical College), part of Thomas Jefferson University in Philadelphia, Pennsylvania. This laboratory was established in 1973 by Dr. Wenger, and currently receives the largest number of samples for lysosomal diseases in the world. Testing has resulted in the diagnosis of over 4,600 individuals with a lysosomal disease.

Dr. Wenger is known for being the first to purify the missing enzyme in Krabbe disease, GALC, and the first to clone the GALC cDNA gene. He’s also identified over 100 mutations causing Krabbe disease in humans, successfully placed human and mouse GALC cDNA into several viral vectors including retroviral, adeno-associated viruses, lentiviruses and SV40. Dr. Wenger has transduced oligodendrocytes from the twitcher mouse with viral vectors containing human GALC cDNA, and corrected them to a normal phenotype. He has published many prominent peer-reviewed journal articles. Thanks to Dr. Wenger’s five decades of commitment and hard work, the Krabbe disease community remains hopeful that a clinical trial for Krabbe disease will be available by 2020.

Batten Disease Support & Research Association Launches Two New Pilot Programs

The Batten Disease Support & Research Association (BDSRA) has launched two new pilot programs: the Batten Family Help Fund and the Emerging Research Conference Travel Award. The Batten Family Help Fund is a small-grant program of up to $750 to be used for family emergencies helping children, young people or adults (and their immediate families or those who care for them) living with Batten disease in the United States. The financial support of caring donors, including the BDSRA 2018 Family Conference attendees in Nashville, made it possible for the BDSRA to create this new program. Use this online form to apply for this emergency grant.

The Emerging Research Conference Travel Award seeks to educate and motivate researchers new to the Batten disease field to pursue projects in Batten disease by helping to cover the costs of attending the International Conference on Neuronal Ceroid Lipofuscinoses in London, UK, September 12-16, 2018. At their annual family conference in Nashville which convened in July 2018, the BDSRA chose four recipients of this award.

Armagen, Inc. Announces FDA Granting of Orphan Drug Designation to AGT-184

On August 2, 2018, ArmaGen, Inc., a biopharmaceutical company located in Calabasas, California, announced that the U.S. Food and Drug Administration’s Office of Orphan Products Development has granted Orphan Drug Designation to its investigational agent AGT-184 for the treatment of lysosomal disease mucopolysaccharidosis type IIIA (also known as MPS IIIA, or Sanfilippo syndrome type A). AGT-184 is an investigational enzyme replacement therapy for the treatment of the cognitive effects of MPS IIIA. The missing or diminished enzyme needing therapeutic replacement is N-sulfoglucosamine sulfohydrolase (“SGSH”).

AGT-184 is an immunoglobulin G (“IgG”)-SGSH fusion-protein, where the IgG portion is a human anti-insulin receptor monoclonal antibody. The insulin receptor antibody domain triggers transport of the AGT-184 fusion-protein across the blood brain barrier, by binding to endogenous insulin receptors present on the blood brain barrier. Normally, the blood brain barrier blocks large molecules such as enzymes from entering the brain. In effect, this is a Trojan Horse approach to successfully delivering the therapeutic agent to the brain. ArmaGen, Inc. is currently conducting Investigational New Drug (“IND”) application-enabling activities (manufacturing, toxicology studies), with the goal of filing an IND application with the U.S. Food and Drug Administration in late 2019.

The FDA grants Orphan Drug Designation to drugs intended to treat a rare disease or condition affecting fewer than 200,000 people in the U.S. This designation confers special financial incentives to the drug developer, including tax credits on clinical development costs and prescription drug user-fee waivers, and it may confer the right to seven years of market exclusivity in the U.S. upon FDA approval of the orphan drug.

Easily Learn More About CRISPR

The LDN thanks the Batten Disease Support and Research Association (BDSRA) for pointing the way to the following information.

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is one of the new technologies some researchers are using to explore possible genetic treatment of rare genetic disease. CRISPR is a tool for precision gene editing.

This episode of NOVA, which originally was broadcast by PBS in the United States on May 23, 2018, describes how some researchers are using CRISPR. You may wish to skip to minute 32 to see how gene therapy may help the adrenoleukodystrophy (“ALD”) community.

For an even shorter overview of how CRISPR works, check out this 1.5-minute NOVA Wonders video By Michael Rivera.

CRISPR is one of the topics that will be addressed by expert speakers at “The Next Revolution: Genome Engineering 2018” conference at the University of Minnesota in Minneapolis, July 19-21, 2018. For more details visit our Calendar page, where events are shown in chronological order.