Sanfilippo Syndrome Clinical Care International Guidelines

These guidelines provide guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. The contents of this document have been reviewed and approved by medical and scientific professionals in the field. The file can be viewed and downloaded by clicking here.

A collaborative effort between Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation initiated and led this project through completion, as well as worked to incorporate the patient perspective throughout the process.

Please share this freely-available document with anyone involved in your child’s care.


IN DEPTH:
The first-ever global consensus clinical care guidelines for Sanfilippo Syndrome have been published.
These guidelines provide guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. Publication in a scientific journal means that the contents of this document have been reviewed and approved by medical and scientific professionals in the field. A collaborative effort between Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation initiated and led this project through completion, as well as worked to incorporate the patient perspective throughout the process. Please share this freely-available document with anyone involved in your child’s care. 

How to get a copy of “Sanfilippo syndrome: consensus guidelines for clinical care”?
You can access and download the guidelines at this linkhttps://rdcu.be/cYqUj
You can also find information about the guidelines and access the document through Cure Sanfilippo Foundation’s website herehttps://bit.ly/3WccohF

Please help spread information and share this freely-available document

Why are the guidelines so important?
Having a rare disease means that most doctors will not have ever seen a person with your same disease in their career. This results in guesswork about how to manage the health of a child with Sanfilippo Syndrome. Establishing consensus among medical professionals on recommended care guidelines is a key step to elevating the care and support for children around the world with Sanfilippo Syndrome. This first-of-its-kind set of consensus recommendations removes the guesswork of which symptoms should be monitored, through which tests, and how frequently, while acknowledging the importance of patient-specific flexibility. 

What is in the guidelines?
The document represents a consensus set of basic clinical care guidelines that are accessible to clinicians and families globally. The guidelines consist of evidence-based, expert-led recommendations for how to approach Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. Topics addressed in the guidelines include: Symptoms that should raise suspicion for the diagnosis of Sanfilippo SyndromeMethods of establishing the diagnosisEvaluating, monitoring and managing neurological, gastrointestinal, airway, musculoskeletal and the many other complications that developSpecial focus on the evaluation of unexplained pain and distressRehabilitative therapiesSupport services  

Who should use the guidelines?
These clinical care guidelines are intended for use by anyone providing medical care, rehabilitative care, or support services for individuals with Sanfilippo Syndrome. Additionally, the guidelines are a practical resource for families to become well-informed advocates and for them to share with their local care team, who may not have previous experience with this rare disease.  

How were the guidelines developed?
The guidelines were established through a multistage process to arrive at consensus recommendations, with input from more than 100 clinicians around the world who have experience in the care of individuals with Sanfilippo Syndrome. The patient perspective was integrated through participation of the collaborating Sanfilippo advocacy organizations. 

This multistage process included:
– Review of existing publications and gap analysis
– Draft guidance statements: Guideline Development Group and Steering Committee
– Two rounds of online survey to garner consensus
– Final guidance statements that reached consensus were formulated into a manuscript
– Submission of manuscript to journal for peer-review
– Acceptance and publication of the manuscript titled, “Sanfilippo syndrome: consensus guidelines for clinical care”  

What are the next steps?
Cure Sanfilippo Foundation (USA) and Sanfilippo Children’s Foundation (Australia), in collaboration with international Sanfilippo Syndrome organizations, are developing a streamlined version of the guidelines for easy reference and access in multiple languages.  “Access to clinical care guidelines will be an equalizing factor in the standard of care for individuals with Sanfilippo syndrome around the world,” said Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation. “We are thrilled to share the culmination of this effort, which developed consensus-based care guidance from a multi-national perspective, with everyone who seeks to provide the best care for children with Sanfilippo Syndrome.”
Thank you to the many amazing individuals and organizations that contributed to creation of these clinical care guidelines for Sanfilippo Syndrome. 

Thank you to the members of the Clinical Guidelines Steering Committee: Nicole Muschol, MD, of University of Hamburg (Germany); Roberto Guigliani, MD, PhD, of Federal University of Rio Grande do Sul (Brazil); Simon Jones, MD, PhD, of University of Manchester (United Kingdom); Joseph Muenzer, MD, PhD, of University of North Carolina (USA); Nicholas Smith, MD, University of Adelaide (Australia); Chet Whitley, MD, PhD, University of Minnesota (USA); Megan Donnell, Sanfilippo Children’s Foundation (Australia); Elise Drake, PhD, of Cure Sanfilippo Foundation (USA); Kristina Elvidge, PhD, of Sanfilippo Children’s Foundation (Australia); Lisa Melton, PhD, of Sanfilippo Children’s Foundation (Australia); and Cara O’Neill, MD, of Cure Sanfilippo Foundation (USA). 

Also thank you to the many experts who contributed as part of the Guideline Development group and those who participated in consensus building surveys. 

Thank you to Global Genes, BioMarin Pharmaceutical Inc., Cure Sanfilippo Foundation, and Sanfilippo Children’s Foundation for providing funding to develop these consensus guidelines. 

Thank you to Jonathan Morton, PhD, and Ben Drever, PhD, of Comradis Limited (United Kingdom) for their medical writing support.

Cure Sanfilippo Foundation | PO BOX 6901, Columbia, SC 29260

Global Genes® Offers Free Online Courses at its ‘Rare University’

Global Genes® has free online course-offerings at its ‘Rare University.’ A valuable, featured course is entitled ‘Genetics Concepts for Rare Disease Patients and Families.’ It is a completely self-paced online course – you decide when you start and when you finish. It contains the following sections:

• Genetics Concepts for Rare Disease: Eight lessons for learning about many concepts that directly relate to genetic conditions, from basic concepts such as what genes and chromosomes are, to more complex concepts such as epigenetics and multifactorial conditions.

• Family and Heredity: Six lessons for learning more about the inheritance patterns associated with genetic conditions, about genetics healthcare professionals, and information about resources to help you connect with others in the rare disease community.

• Genetic Testing: Seven lessons for learning about how genetic testing works, about different types of genetic tests that exist, and about different types of genetic testing providers.

• Scientific Advances in Genetics and Medicine: Six lessons for learning about advances in genetics and medicine, such as gene therapy, gene editing, and human reproductive treatment advances. You’ll also be able to learn about participation in medical research, such as enrolling in clinical trials.

After registering yourself at Rare University, you have unlimited access to course offerings for as long as you like – across any and all devices you use. Rare University and its course-offerings are generously sponsored by several corporations, including Illumina®Horizon Therapeutics PLCAvexisNovartis and Sanofi Genzyme.

New! Rare Disease Caregiver Respite Program

The National Organization for Rare Disorders (NORD)‘s financial-assistance Respite Program is designed for caregivers (parent, spouse, family member, or significant other) of a child or adult with a documented diagnosis of a rare disorder. The Respite Program provides financial assistance to enable the caregiver to take a break to attend a conference or other event, or to simply have an afternoon or evening away from caregiving. Financial assistance will be granted up to $500 annually for those who qualify. Awards may be spread throughout the year or spent in a single use.


NORD stated that awards are granted on a first-come, first-served basis to eligible individuals. The applicant must be willing to undergo a financial evaluation of need, and fall within the Program’s financial eligibility guidelines. A NORD Patient Services Representative will guide the applicant through the process, including verifying financial eligibility using NORD’s Electronic Income Verification System. The application decision process may take as few as five minutes over the telephone. Applications completed and submitted via e-mail, fax or U.S. mail will be processed within three business days of receipt. There is no fee to apply.

Covered respite care can include:
• Registered Nurse (RN)
• Licensed Practical Nurse (LPN)
• Certified Nursing Assistant (CNA)
• Home Health Aide (HHA)

Initial funding for the Respite Program was donated by Retrophin, a biopharmaceutical company specializing in identifying, developing and delivering life-changing therapies to people living with rare disease. The donation was made in honor of its former CEO Steve Aselage’s retirement from the company. NORD’s Respite Program fund continues to accept additional donations to ensure this program is sustained for years to come. For more information and instructions on how to apply, visit NORD’s information page. Additionally, you can obtain more information about NORD’s Respite Program by telephoning NORD at (203) 616-4328 or sending an e-mail to CaregiverRespite@nullrarediseases.org.

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.

Sanfilippo 2018 Grant Competition Now!

The Sanfilippo Children’s Foundation’s 2018 grant-funding round will open on March 1, 2018 for accepting “Expression of Interest” applications. The 2018 grant competition information will be available beginning March 1, 2018. They are accepting Expressions of Interest until April 3, 2018.

The Sanfilippo Children’s Foundation, located in Australia, funds Sanfilippo syndrome medical research internationally. They plan to invest between AUD$500,000 – $700,000 in their grant-funding program annually across four grant types:

• Translational research grants

• Incubator grants

• Scholarships and Fellowships

• Travel grants

The Sanfilippo Children’s Foundation is particularly interested in three focus areas:

• halt disease progression through therapies such as enzyme replacement, gene therapy and cell therapy, and employ strategies to enhance the effectiveness of such emerging therapies;

• repair and reverse the cell damage caused by Sanfilippo syndrome, which could include the application of neuro-regeneration advances made for other neuro-degenerative diseases; and

• improve quality of life through palliative care and symptom management specific to Sanfilippo syndrome.

Beginning March 1, 2018 be sure to visit their web site for more information. They are accepting e-mail inquiries also.

NORD Provides Insurance Videos

Open enrollment for healthcare insurance coverage is November 1 – December 15, 2017. In addition to providing concise information about state healthcare insurance plans, the National Organization for Rare Disorders (NORD) has created a series of videos to help rare disease patients and caregivers in the process of choosing a healthcare insurance plan. There are 4 short videos covering what questions one should ask when going through the process of choosing one’s plan.

Call for Leukodystrophy Papers!

The Journal of Behavioral and Brain Science (“JBBS”, ISSN Online: 2160-5874), a peer-reviewed open-access journal, is seeking papers for the upcoming special issue on “Leukodystrophy”. Researchers and authors are invited to submit original research and review articles exploring leukodystrophy. The aims and scope of this special issue include, but are not limited to:

Krabbe disease
Metachromatic leukodystrophy
Canavan disease
Leukoencephalopathy with vanishing white matter
Adrenoleukodystrophy
Alexander disease
Cerebrotendineous xanthomatosis
Hereditary CNS demyelinating disease
Pelizaeus-Merzbacher disease
Refsum disease
Adrenomyeloneuropathy

Submission deadline is March 15th, 2017. The special issue will appear May 2017.

Sanfilippo Grant Competition Now!

The Sanfilippo Children’s Foundation’s 2017 grant-funding round is now open for medical research into Sanfilippo syndrome. They are accepting expressions of interest until April 3, 2017. Successful expressions of interest will be notified in mid-April 2017. The deadline for full applications is May 19, 2017. Funding decisions will be made in August 2017.

The Sanfilippo Children’s Foundation funds Sanfilippo syndrome medical research internationally, and has two types of grants available: ‘Incubator’ and ‘Translational.’ They also fund PhD scholarships within Australia, where the Foundation is located. The Sanfilippo Children’s Foundation is particularly interested in three focus areas:

• halt disease progression through therapies such as enzyme replacement, gene therapy and cell therapy, and employ strategies to enhance the effectiveness of such emerging therapies;

• repair and reverse the cell damage caused by Sanfilippo syndrome, which could include the application of neuroregeneration advances made for other neuro-degenerative diseases; and

• improve quality of life through palliative care and symptom management specific to Sanfilippo syndrome.

Be sure to visit their web page for more information. They are accepting e-mail inquiries also.

Conference on Batten Disease — Videos!

The 15th International Conference on NCL (neuronal ceroid lipofuscinosis, a.k.a. Batten disease) took place in Boston, Massachusetts on October 5-8, 2016. There are 3 valuable videos and 3 online articles available from this conference at NCL Conference Videos, presented courtesy of BioMarin Pharmaceutical Inc. and Rare Disease Report®. One of the online articles presents the results of the Batten Disease Parent Survey that was conducted during the annual Batten Disease Support and Research Association’s Family Conference in July 2016. These survey results were also presented at this 15th International Conference on NCL, and help clarify the parents’ perspective on their interactions with the professional medical and research community. Lysosomal Disease Network principal investigators Ronald Crystal, M.D. of Weill Cornell Medical College in New York, and Jonathan Mink, M.D., Ph.D. of the University of Rochester Medical Center in New York were among the many outstanding researchers who presented findings at this conference.