RDCRN to expand

On Oct. 3, 2019, NIH announced awards to expand the RDCRN.

The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.

Currently, the RDCRN consists of 20 distinct clinical research consortia and a Data Management and Coordinating Center (DMCC). Each consortium focuses on at least three related rare diseases, participates in multisite studies and actively involves patient advocacy groups as research partners. The DMCC enables uniform high-quality data collection and analysis and facilitates information sharing across the network. This robust data source helps scientists better understand the common elements of rare diseases so they may apply that knowledge to improving diagnosis and treatment for these conditions.

Lysosomal Disorders Network headed by Chester B. Whitley, M.D., Ph.D., University of Minnesota, Minneapolis was the recipient of one of the awards.

Learn more about this project in NIH RePORTER.

Progress Towards Clinical Trial for Treatment of MPS IIIC

U.S.-based biotechnology company Phoenix Nest, Inc. has signed a license agreement with the University of Manchester in the U.K. to use the product of research conducted by Professor Brian Bigger’s laboratory at the University of Manchester, working in collaboration with Dr. Els Henckaerts’ laboratory at King’s College London. Dr. Bigger is Professor of Cell and Gene Therapy at the University of Manchester. Dr. Henckaerts is Lecturer in the Department of Infectious Diseases at King’s College London. Phoenix Nest, Inc. plans to take the licensed research product to clinical trial for patients with Sanfilippo syndrome type C (MPS IIIC). This license agreement is an important early step on the long journey to an FDA-approved clinical trial of this gene therapy.


The research product which has been licensed by Phoenix Nest, Inc. is based on the discovery of a novel adeno-associated viral vector (AAV) with an altered protein coat, which appears to make the virus work better within the brain. This new vector, called AAV-TT (AAV-true type), has been altered to efficiently deliver the missing HGSNAT gene to the brain to treat MPS IIIC. Comprising an international group of scientists, the research teams concluded that they had demonstrated complete behavioral and brain correction of Sanfilippo syndrome type C in mice. Dr. Bigger said, “This gene therapy technology, recently published in the journal Brain, will be used by Phoenix Nest to treat Sanfilippo syndrome type C.”

The Sanfilippo Children’s Foundation (in Australia), an LDN-associated patient advocacy group, was one of eight foundations who helped co-fund this research project. The other co-funding foundations included: Jonah’s Just Begun, another LDN-associated patient advocacy group; King’s College London Commercialization InstituteSanfilippo BarcelonaSanfilipo PortugalSanfilippo BrasilLe Combat de Haitem-Contre SanfilippoJLK Sanfilippo Research Foundation; and VML Foundation. Additional funding sources are listed near the end of the article in Brain.

Gene Therapy Clinical Trial for Sanfilippo Syndrome Type B (MPS IIIB) is Underway

Abeona Therapeutics, Inc. is enrolling individuals aged 6 months and older who have MPS IIIB and evidence of neurologic dysfunction in its Phase I/II non-randomized clinical trial of a one-time gene therapy with ABO-101. ABO-101 is Abeona’s designation for rAAV9.CMV.hNAGLU. The clinical trial is an open-label, dose-escalation trial of ABO-101 injected intravenously through a peripheral limb vein. Trial participants will receive a one-time intravenous injection of either high- or low-dose ABO-101. Researchers will then assess the treatment’s safety and effectiveness at six, 12, and 24 months after gene therapy administration. There are two clinic locations for this clinical trial: Nationwide Children’s Hospital in Columbus, Ohio, USA; and Hospital Clínico Universitario de Santiago, in Santiago De Compostela, Spain.

Minnesota Senate Creates New Rare Disease Advisory Council

On May 8, 2019 the Minnesota Senate unanimously passed legislation that would create a new rare disease advisory council at the University of Minnesota to facilitate the study and treatment of rare diseases. Erica Barnes, co-founder and Board Chairperson of Chloe’s Fight Rare Disease Foundation, worked tirelessly for the creation and passage of this bill. Chloe’s Fight Rare Disease Foundation is affiliated with the Lysosomal Disease Network.

The bipartisan bill, authored by Sen. Jeremy Miller (R-Winona), created the ‘Chloe Barnes Rare Disease Advisory Council’ at the University of Minnesota. The late Chloe Barnes was born with metachromatic leukodystrophy, and was the daughter of Erica Barnes. Chloe died of metachromatic leukodystrophy at the age of two in 2010.

The work of the Chloe Barnes Rare Disease Advisory Council is to identify best practices to diagnose and treat rare diseases; to educate the public; and to advise state agencies on related policy issues. To facilitate close collaboration with experts at the University of Minnesota Medical School and the Mayo Clinic School of Medicine, the Council will be established within the University of Minnesota. The Council will partner with legislators and other government leaders to provide expert opinion on the provider‐patient relationship, increase access to vital life‐saving medications and therapies, and bring cutting-edge research and technologies to Minnesota. Physicians, nurses, hospital administrators, rare disease advocacy organizations, caretakers, and patients themselves will have a seat at the table.

Senator Miller said, “Creating this new Rare Disease Advisory Council will help families receive faster diagnoses, advance groundbreaking research, and ultimately help find cures. I am especially proud of the amazing grassroots effort behind this bill. This was driven by everyday people who took a difficult situation and channeled their frustration, their grief, and their anxiety into something incredibly positive. This includes the family of Chloe Barnes and the Quimby family from Winona who lost their 5-year-old son Gavin to a rare disease. I’m proud to play a small part in their story.”

The interesting details about the membership of the Chloe Barnes Rare Disease Advisory Council and the members’ appointment-term are here (click on the “Bill Text” tab). Initial appointments to the Chloe Barnes Rare Disease Advisory Council shall be made no later than September 1, 2019.

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.

NORD Issues New Rare Disease Day® Rallying Cry: Show Your Stripes™!

The zebra is the official symbol of rare diseases in the United States, and is noted for its black and white stripes, which are central to its uniqueness. Everyone has his/her own stripes, those characteristics that make each individual distinct. While each of the more than 7,000 rare diseases are unique, there are many commonalities that unite the rare disease community.

The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit organization representing the 25-30 million Americans living with rare diseases, has announced a new campaign for Rare Disease Day® centering on three simple words: Show Your Stripes™, with a call to action for people to literally and figuratively “show their stripes” in support of rare diseases leading up to and on Rare Disease Day®, which will be observed on February 28th in 2019. In the spirit of raising awareness regarding rare disease issues and celebrating Rare Disease Day, this year NORD will promote specific ways that individuals, organizations and groups can show their stripes. NORD will:

• Ask everyone to wear stripes on Rare Disease Day® to show solidarity in rare disease awareness and education, and to share that message.

• Launch a Show Your Stripes™ challenge, in which the general public will be dared to show their stripes for rare diseases as imaginatively as possible. NORD will recruit influencers – individuals, companies and organizations – to initiate the challenge by thinking of creative ways that they will show their stripes (examples we hope to see: individuals dressing up as zebras, striping a car, 400+ employees at a company all wearing stripes, striping a train car, or advertising on trains).

• Collect and share photos, stories and videos of individuals and their colleagues, friends and families all wearing their stripes together on social media using the hashtags #showyourstripes and #rarediseaseday.

• Provide a Show Your Stripes™ social media profile frame, as well as stickers, signage and other materials that can be downloaded and printed.

• Encourage the hosting of events (virtual or live) in local communities to bolster interest and knowledge for the rare disease cause.

Glycogen Storage Disease Research Study is Enrolling

Alexa Bream, a genetic counseling student at University of Texas Health Science Center at Houston (UTHealth), is conducting a survey to examine the relationship between metabolic control, body image, and quality of life in individuals with glycogen storage disease (GSD) type 1a. The survey is available for parents of children with GSD 1a, as well as adults who have a diagnosis of GSD 1a. No personally-identifiable information will be collected and all responses will be confidential. For more information please contact Alexa Bream.

MPS Society in the UK has Appointed Bob Stevens as its New CEO

The Board of Trustees of the Society for Mucopolysaccharide Diseases in the United Kingdom (the “MPS Society”) has appointed Bob Stevens as its new CEO. Mr. Stevens was already working with Christine Lavery prior to her unexpected death, on the task of becoming prepared to lead the MPS Society after her retirement. Additionally, he has been a Trustee of The MPS Society for over 10 years. Mr. Stevens has two sons who have MPS II.

In making this appointment, Paul Moody, Chairman of the Board of Trustees of the MPS Society, wrote: “The Board of Trustees have now acted decisively and quickly in implementing not only what we believe were Christine’s wishes, but also the unanimous wishes of the board of trustees.” Mr. Stevens is also the CEO of the Society’s “MPS Commercial,” its unit that works to help the pharmaceutical industry successfully perform clinical trials for the MPS diseases. MPS Commercial is a wholly-owned, not-for-profit subsidiary of the Society, whose social objectives are to invest any profits into the MPS community for the purposes of education, enhancing needs-led advocacy support, quality-of-life research and scientific research.

Christine Lavery, Chief Executive of the MPS Society in the UK, has Died

Mrs. Christine Lavery MBE, a founder and the Chief Executive of the Society for Mucopolysaccharide Diseases (MPS Society) in the UK, died on Tuesday, December 19, 2017, following a brief illness. The MPS Society stated, “Christine has tirelessly championed the MPS Society from its very conception in the early 1980s up until her untimely death. She was a formidable lady who cared passionately for every MPS Society member, past and present. Her efforts saw her work with patients, families and professionals all over the world as she dedicated her life to improving the knowledge, advocacy support and clinical outlook for patients with MPS. We are all deeply saddened at the tragic loss of her life.” The MPS Society has announced the Christine Lavery Memorial Day at Childhood Wood, Sherwood Pines, Nottinghamshire, UK, on Saturday, June 30, 2018. To receive more details about this as they emerge, register for updates.

Mrs. Lavery was awarded an MBE for her services to metabolic diseases by HM Queen Elizabeth II in the New Year’s Honors List for 2002. At the 2006 International Symposium on Mucopolysaccharide and Related Diseases she received a ‘lifetime award’ from the International MPS Community. WORLDSymposium™ awarded Christine Lavery the 2017 Patient Advocate Leader (PAL) Award.

Mrs. Lavery was the mother of Simon Lavery, a child who had MPS II. There are some brief biographical highlights of Christine Lavery’s life at the Brains for Brain Foundation site, under the paragraph-heading “Christine Lavery Short Biography.” Prior to serving the lysosomal disease community, Mrs. Lavery volunteered for Save the Children and the International Year of the Child. That short biography reveals a lifetime of focused dedication to improving the lives of those with special needs. She is deeply missed throughout the world.

Ultragenyx Announces FDA Approval of MEPSEVII™ (Vestronidase Alfa), The First Therapy for Mucopolysaccharidosis VII

On Nov. 15, 2017, Ultragenyx Pharmaceutical Inc. announced that the U.S. Food and Drug Administration has approved MEPSEVII™ (vestronidase alfa), the first medicine approved for the treatment of children and adults with mucopolysaccharidosis VII (MPS VII, Sly syndrome). MEPSEVII™ is an enzyme replacement therapy designed to replace the deficient lysosomal enzyme beta-glucuronidase in MPS VII patients. The effect of MEPSEVII™ on the central nervous system manifestations of MPS VII has not been determined.

MEPSEVII™ was evaluated by the FDA with Priority Review, which is reserved for drugs that offer major advances in treatment or provide a treatment where no adequate therapy exists. Designation of a drug as “Priority” does not alter the scientific/medical standard for approval or the quality of evidence necessary. In Europe, the European Medicines Agency (EMA) is currently reviewing the Marketing Authorization Application (MAA) for vestronidase alfa, and an opinion from the Committee for Medicinal Products for Human Use (CHMP) is expected in the first half of 2018.

“I am thrilled beyond belief to see this treatment advance after more than 40 years of work and anticipation. Thanks to Ultragenyx for making it happen,” said William S. Sly, Chairman Emeritus, Department of Biochemistry at St. Louis University, who first identified and characterized MPS VII. “I hope that this treatment will follow the other successful examples of enzyme therapy for LSDs and help improve the lives of patients with this rare disease.” Former 2016-2017 Lysosomal Disease Network fellow Michael Flanagan, PhD, had the privilege of being partly mentored by Dr. Sly during his LDN fellowship at St. Louis University.