International Honor of 2020 “Patient Advocate Leader” Given To Dr. Cara O’Neill

Chief Science Officer Cara O'NeillThe thought leadership of Dr. Cara O’Neill, Chief Science Officer at Cure Sanfilippo Foundation, a pediatrician, and mother to a daughter with the rare disease Sanfilippo Syndrome (MPS III), in the rare disease space is being recognized at an international level.

Each year, WORLDSymposium recognizes one individual for their patient advocacy leadership in the field of lysosomal disease. Dr. O’Neill is the recipient of the 2020 Patient Advocate Leader Award, which will be presented WORLDSymposium 2020 on Feb. 12, 2020.

The award, which began in 2016, recognizes an individual for their direct contribution 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. Past recipients include remarkable leaders such as Barbara Wedehase, former Executive Director of the MPS Society (2016); Christine Lavery, Group Chief Executive for the UK Society for Mucopolysaccharide Diseases (2017); Jack Johnson, Executive Director of the Fabry Support & Information Group (2018), and Mark Dant, Chairman of the EveryLife Foundation for Rare Diseases and founder of The Ryan Foundation (2019).

“It is a great honor to receive this award, and I am humbled to be among past recipients of such high caliber and contribution,” said Dr. O’Neill. “Cure Sanfilippo Foundation has found many great partners interested in collaborating with us on new clinical strategies, improved patient input, and pathways for faster diagnosis, which benefits all families dealing with Sanfilippo Syndrome, as well as patient communities in other diseases.”

Dr. O’Neill’s uniquely-paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry, and families, helping foster patient-centered research and future translational paths for rare disease treatments.

She leads patient-focused research efforts within Cure Sanfilippo and has presented at international conferences and authored peer-reviewed journal articles. In addition, she collaborates with other non-profit groups on mutual advocacy and research interests, as well as oversees the Foundation’s funding of external scientific programs.

Dr. O’Neill leads in developing innovative integration of patient perspective and technology into study design and pioneering support for pediatricians in diagnosing rare diseases early, such as:

  • Conducting the first-ever Sanfilippo Caregiver Preference Study;
  • Piloting The GAPP Project, using cutting-edge facial recognition technology in pediatric clinics to accelerate accurate diagnosis and access to specialized geneticist for a wide range of genetic conditions;
  • Collaborating with Sanfilippo Children’s Foundation (Australia) to create Global Clinical Management Guidelines for Sanfilippo, a crucial clinician tool as there is only scarce, fragmented management guidance currently available; and
  • Leveraging technology, such as wearable devices and video capture of disease symptoms (gait, motor skills, speech, social interaction), to improve the quantity and quality of date used to evaluate experimental therapies.

“Her work has broader application than just Sanfilippo Syndrome. Many of the clinical and scientific strategies that O’Neill leads could be applied to multiple diseases, even beyond rare diseases, making her contributions to the scientific community exceptional,” said Dan Fraley, Chair of Cure Sanfilippo Foundation.

This is fantastic news and a well-deserved honor for Dr. O’Neill. It has been a true inspiration to work with her on initiatives to improve the lives of patients with Sanfilippo Syndrome and their families,” said Wayne Pan, MD PhD MBA, Medical Director/Global Medical Affairs for BioMarin. “It is wonderful to see the lysosomal storage disease community recognizing her for all of your contributions.”

Created in 2014 by O’Neill and her husband Glenn, Cure Sanfilippo Foundation has already raised more than $8 million through grassroots and viral fundraising which has helped fund more than 20 research projects, including the first-ever gene therapy clinical trials for Sanfilippo Syndrome. A complete list of funded projects can be viewed at

Why and how to achieve novel outcomes in neurodegenerative gene therapy trials

Picking outcome measures for neurodegenerative gene therapy trials in rare disease is difficult. The conditions often have a lot of heterogeneity, relatively small sample sizes, and rarely disease-specific outcome measures. That is why “outside the box” thinking is necessary, and Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, shared how novel outcomes could be used to expand and improve evaluation of gene therapy trials for neurodegenerative diseases at the Lysogene/Sarepta satellite symposium during SSIEM 2019 last week in Rotterdam, Netherlands.

Cara O'Neill at SSIEM 2019Most of the measures used in childhood neurodegenerative conditions are drawn from more general measures based on normal neurodevelopment and behavior patterns, rather than hallmarks of particular disease. So rare diseases are always being compared to “Normal.” But is that a fair comparison knowing that these patients have had chronic ongoing brain injury to the immature developing brain? 

“We have to do a better job of matching endpoints with the patient’s needs across the spectrum of any given disease,” urged O’Neill.

The key is meeting the patient needs, not the clinician’s needs or fulfilling assumptions that have been made in the past about patients’ need.

“We must get as close as we can to discerning what is going to make their life better, for however long that is.”

Cara O'Neill at SSIEM 2019Sharing early data from the Foundation’s MPS III Caregiver Preference Study, O’Neill noted that the more than 160 Sanfilippo caregivers across 14 different countries listed pain, communication, mobility and hyperactivity among their treatment priorities. Additionally, what caregivers prioritize changes along the course of the disease. 

O’Neill detailed how the Foundation has partnered with Aparito, Casimir Trials, and Lysogene to conduct an exploratory study of
novel outcomes for MPS IIIA running in parallel to AAV10-SGSH intracranial gene therapy trial. The study uses frequent video capture by caregivers to monitors specific disease hallmarks and priorities identified by the Caregiver Preference Study in the child’s familiar environment  to capture the child’s best ability. 

The patient-reported outcome videos study has allowed detection of subtle, but meaningful, incremental changes and appears feasible for longer term monitoring of real-world functioning and patient status, reported O’Neill.

    ABO-102 Gene Therapy Preserves Cognitive Development in Young Sanfilippo Children

    Young children with Sanfilippo Syndrome who were treated with ABO-102 gene therapy in the high-dose cohort demonstrated preserved neurocognitive development 12-18 months post treatment. Additionally, the children continued to track within normal age-equivalent development.

    Abeona Therapeutics, which is conducting the ongoing Phase 1/2 clinical trial evaluating ABO-102 gene therapy, announced the positive data in late July. 

    In its statement, Abeona shared that, “Robust and sustained improvement observed in biomarkers confers additional evidence of a clear biological effect following ABO-102 administration. In addition, longer-term safety remained favorable eight months to two years after treatment.”

    Abeona is enrolling eligible patients at sites in the U.S., Spain, and Australia. Read more about the trial enrollment.

    Because of donors’ generous support, Cure Sanfilippo Foundation was an initial funder of Abeona’s gene therapy Type A and Type B clinical trials. 

    Read this article by for additional information about the clinical trial. 

    Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

    Caregivers for children with Sanfilippo Syndrome face a unique set of challenges because of the disease’s complex nature. There is little understanding among clinicians of the family experience of caring for patients with Sanfilippo and how a caregiver’s experiences change and evolve as patients age. The burden and impact on caregivers’ quality of life is poorly defined and best-practice guidance for clinicians is lacking.

    Chief Science Officer Cara O'NeillA group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo and lysosomal storage disorders met to begin filling this void of understanding and create best-practice guidance for clinicians. Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, was among the advisors. As a mother of a child with Sanfilippo, Cara brought first-hand caregiver perspective to the collaboration in addition to scientific and medical expertise.

    The group reviewed key aspects of caregiver burden associated with Sanfilippo B by identifying and quantifying the nature and impact of the disease on patients and caregivers. They co-authored recommendations based on findings from qualitative and quantitative research, which were recently published in the Orphanet Journal of Rare Diseases.

    The article’s authors report that:
    “Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties.
    Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.”

    Additionally, the authors call for changing the narrative associated with Sanfilippo:

    “The panel agreed that the perceived aggressive behavior of the child may be better described as ‘physical impulsiveness’ and is often misunderstood by the general public. Importantly, the lack of intentionality of the child’s behavior is recognized and shared by parents and panel members.

    Parents may seek to protect their child from public scrutiny and avoid situations that many engender criticism of their parenting skills.”

    Read the complete article from the Orphanet Journal on Rare Diseases.

    Helping the research, clinical, and regulatory communities understand the perspectives of caregivers for Sanfilippo children is a priority for Cure Sanfilippo. The fastest path to a cure is when researchers, clinicians, regulators, and patient advocates collaborate and align. Another way to the Foundation is working to amplify the caregiver voice and project it into the industry space is with its Caregiver Preference Study. Learn more about this initiative.

    Abeona launches website with eligibility survey for its now-enrolling MPSIII clinical trial

    Abeona has launched, a website featuring information about its Transpher A Study clinical trial in Sanfilippo syndrome type A (MPS IIIA). The Transpher A Study currently is enrolling eligible patients as young as 6 months old.

    A part of the site is an eligibility survey to see if your child may be able to participate:

    The following additional information was provided by Abeona regarding its website, its Transpher A Study and Transpher B Study, and how it’s working to spread awareness of them to families with Sanfilippo Syndrome.

    Click here or directly on the image for a downloadable PDF.

    July 2019 Update from Abeona regarding clinical trial tool and

    Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

    First-Ever Collaboration: Pilot Program Giving Pediatricians Direct Access to Geneticists so Rare Diseases Are Diagnosed Accurately and Early

    Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this happening is bridging the gap in pediatricians’ access to genetics information, especially regarding rare diseases. To help bridge this gap, Cure Sanfilippo Foundation has partnered to pilot the Genetics Access in Primary Pediatrics (GAAP) project, linking Greenwood Genetic Center’s (GCC) clinical geneticists and genetic counselors to pediatricians through the Faces2Genes app.

    Face2Gene analyzes patient photographs using machine learning and computer algorithms to help make challenging diagnoses. Through the GAPP pilot project, the Face2Gene improves patient wait times and allows a pediatrician to identify patients through a list of genetic “triggers” or features that may indicate a need for further genetic evaluation.

    If the patient’s family elects to be a part of the GAPP pilot project, the pediatrician uploads facial photos and other clinical information to Face2Gene where it can be securely shared with GGC clinicians for review. The geneticist can suggest appropriate referrals or genetic testing that can be initiated by the pediatrician in advance of the genetics appointment. Urgent referrals can be prioritized, and when the patient does come in for their genetics consultation, initial test results have already been completed, saving valuable time.

    Learn more about the Faces2Gene project and Foundation’s collaboration.

    Creation of Global Clinical Guidelines for Sanfilippo Syndrome

    Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome in partnership with the Sanfilippo Children’s Foundation (Australia).

    Best-practice guidelines for clinical care are critical for both patients and health care professionals in the management of rare diseases where lack of experience and knowledge about a condition often causes late diagnosis and less than optimal management of the condition. Such guidelines allow clinicians and other health-care professionals to make recommendations based on best-available evidence; improve consistency of diagnosis and clinical management across treatment centers; and enable affected families to make informed decisions regarding care and treatment.

    As several promising treatments move into clinical trial, the need for Global Clinical Guidelines has become increasingly important. The international  steering committee for this project includes: Dr. Simon Jones, UK (Chair); Dr. Joseph Muenzer, US; Dr. Chester Whitley, US; Dr. Nicole Muschol, Germany; Dr. Nicholas Smith, Australia; and Dr. Roberto Guigliani, Brazil.

    Experts worldwide from all of the disciplines of health professionals involved in the care of children and young adults with Sanfilippo will be invited to contribute content to the clinical management guidelines.

    These guidelines will be collated and validated by a wider pool of clinicians and the finalized Global Clinical Guidelines published in a peer-reviewed medical journal towards the end of 2019. Production of a family-friendly version of the guidelines is also planned.

    This project is supported by a grant from Global Genes and BioMarin Pharmaceutical

    Below: The team aggregated by the Foundation to lead the project.
    Global Clinical Guidelines on Sanfilippo Syndrome Steering Committee - February 2018

    Update: Read the April 2019 Foundation Update for the latest on the project.

    Caregiver Preference Study for Sanfilippo Syndrome

    Team working on Sanfilippo Syndrome caregiver preference studyCure Sanfilippo Foundation is working to publish the first-ever Caregiver Preference Study for Sanfilippo Syndrome. It will include what parents consider “meaningful benefit,” as well as an exploratory staging tool.

    The aim of the Caregiver Preference Study is to help inform the selection and development of clinical trial endpoints to reflect desired treatment benefits across the lifespan of children with Sanfilippo Syndrome. 

    Our hope is that the publication of these findings further inform key stakeholders, allowing the incorporation of patient voice into the decision making regarding the drug approval process and access. 

    Team working on Sanfilippo Syndrome caregiver preference study; Cara O'NeillOur project design for the Caregiver Preference Study incorporates these various stakeholders including industry partners, regulatory, and parents of children with Sanfilippo Syndrome. 

    More than 150 caregivers recently completed the quantitative survey and are currently being analyzed. Ongoing study results will be shared via poster presentations and manuscripts, as they become available. 

    Outcomes and interim results from our focus groups (the qualitative portion) were shared in a Platform and Poster Presentation at the World Symposium in February 2019, and can be found here:
    presentation poster from the WORLD Symposium 2019.

    Cara O'Neill presenting Caregiver Preference Study results at world conferenceThis important project has received grant support from BioMarin Pharmaceutical, Lysogene, Sobi, and Orchard Therapeutics.


    Sanfilippo Syndrome caregiver preference study poster presentation

    Update from Abeona Therapeutics – February 2019

    The following is a message re-published from Michelle Berg, Vice President of Patient Affairs and Community Engagement for Abeona Therapeutics, Inc. To read the message in its original letter form, click here

    – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – 

    Hello to the International Leadership in the MPS III Community,

    I write to you on this special day that has been designated for the global recognition and deserved focus on those living with or affected by rare disease. This is a wonderful opportunity to bring more light to the everyday impact that navigating the challenges presented by rare disease has, beyond the responsibilities of daily life. Given the focus of our research efforts, rare disease is quite constantly on our minds but providing this additional insight to our team has brought further meaning. Thank you to those who have shared your perspectives with us. The following is an update that comes after continued work with the 9 collaborating foundations for additional studies investigating extended populations of children affected by MPS IIIA and MPS IIIB.

    This is a long message with the purpose of providing greater insight into the different MPS III ongoing and planned studies and other updates from Abeona. First, I’ll start with the news that João Siffert, M.D. has been appointed as CEO after serving as the interim-CEO for several months. For the time, he will continue to serve also as head of Research and Development and Chief Medical Officer until those roles can be filled.

    Next, I’ll elaborate on items we have shared previously and summarize notable updates for the ongoing and planned studies for the investigation first of MPS IIIA programs and then MPS IIIB.

    ABT-001: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA
    Our team met with both FDA and EMA regarding the progress to date on ABT-001, and it was decided that the eligibility criteria in ABT-001 Phase 1/2 study will be modified to enroll additional patients with greater function or who have experienced less neurologic decline. The listing in for this study is now revised with the following modifications. Those interested or with questions should contact their child’s physician to determine eligibility.
    • Inclusion criteria has been adjusted to include Age 6 months to 2 years or children older than 2 years with a minimum cognitive DQ of 60 or above calculated by Bayley Scales of Infant and Toddler Development
    • Total number of anticipated participants adjusted from 16 to 22. This means we are continuing enrollment across sites for a total of up to 8 more participants in Cohort 3.
    • Study completion date changed to Dec 2021 (from Dec 2020) to account for additional participants
    • Exclusion criteria has been modified to account for:
      • Previous treatment by HSCT or participation in gene/cell therapy or ERT clinical trial
      • Any vaccination with viral attenuated vaccines less than 30 days prior to scheduled date of treatment
      • Subjects with positive response for the ELISPOT for T-cell responses to AAV9
    • In addition to a primary outcome of safety, the change from baseline in the Age Equivalent Developmental Score (MSEL or Kaufman) compared with natural history study data will be measured
    • Additional secondary outcomes have been incorporated which include:
      • Change from baseline in the Cognitive Age Equivalent compared to natural history study, calculated using Bayley Scales of Infant and Toddler Development
      • PedsQL total score
      • Parent quality of life, using a tool called the Parenting Stress Index
      • Analysis in plasma, saliva, urine, feces of vector shedding
    • For outcomes already listed on – change to 24 month timeframe (currently lists 12 months)

    ABT-003: Additional Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA and have further disease progression
    As a result of the changes outlined above, we have adjusted the additional planned trial, ABT003, to complement ABT-001 and to investigate the effects of ABO-102 in eligible patients with more progressed or increased neurological impact of the disease.
    • Enrollment criteria to complement upper limits for ABT-001 for no eligibility gap between these two studies
    • Inclusion/exclusion criteria and number of participants are not yet available for release
    • Protocol submission to regulatory agencies is imminent for Spain, Australia, and the United States
    • In parallel, preparations with sites in Spain, Australia, and the United States are well underway and will be limited to these countries
    • Currently, it’s not certain which country will be ready first but we will not wait for all three to initiate enrollment
    • More information will be provided as available
    ABT-002: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIB
    This study is still early with participants with safety as the highest priority followed by getting data to inform on dose. There have been recent updates to the listing for this study, summarized below:
    • Updated Responsible Party and main contact as Abeona
    • Added exclusion criterion of treatment with prior ERT
    • Modified age criteria for enrollment to 6 months and above
    • Removed secondary endpoint of change in brain volume by MRI
    • Added Spain as an active clinical site
    • Efforts continue to initiate sites in UK, Germany, and France
    Thank you again, as I realize this is a large amount of information. Lastly, I’ll be using this format for sending group emails in order to provide people with the option to unsubscribe should they choose to no longer receive updates from Abeona.

    Cure Sanfilippo Foundation

    501c3 non-profit
    (Tax ID: 46-4322131)

    P.O. Box 6901
    Columbia, SC 29260