Patients & Families

Patient Advocacy & Community Engagement (PACE)

The involvement of the patient community is critical to Abeona’s mission to deliver gene and cell therapies for people impacted by serious diseases. It is how we began and remains central to our work.

The PACE team’s mission is to connect patient communities to the work we do by leveraging insights to determine strategy as well as seeking external partnerships to maximize our goals. Our aim is to be a conduit between the communities we serve and the broader Abeona team. We provide focused communication and information and continuously seek input, all with the common goal of minimizing the impact of the devastating diseases in which we work. Our philosophy is that everything can be done better in partnership with the patient community, and we actively seek opportunities to connect with and better serve the community. Please feel free to reach out to the team.

Our focus

Rare Genetic Diseases

There are an estimated 7,000 rare diseases, each affecting fewer than 200,000 people in the U.S. These relatively small groups of patients collectively total more than 25 million Americans, but the breadth and devastation of rare disease is far greater:

  • Children represent about 50% of people living with a rare disease.
  • Rare diseases account for 35% of deaths in the first year of life.

The nature and progression of many rare diseases are poorly understood and likely responsible for the significant need for treatments:

  • Less than 5% of all rare diseases have approved therapies.
  • However, gene therapy is rapidly gaining momentum, considering 80% of rare diseases are caused by an inherited genetic defect.

Gene therapy aims to address the true underlying cause of a disease, and may involve repairing, replacing, or silencing a broken, malfunctioning, overactive, or missing gene. While the durability of gene therapy is unknown, they are designed to treat patients our only one time to slow, halt, or reverse the effects of these diseases. LEARN MORE

Some of these new approaches use a neutralized virus to deliver a functional copy of a mutated gene. LEARN MORE

Recessive Dystrophic Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa, or RDEB, is a rare connective tissue disorder without an approved therapy in which patients suffer with severe epidermal wounds that bring pain, itching, and widespread complications impacting the length and quality of their lives.

People with RDEB have a defect in the COL7A1 gene, leaving them unable to produce Type VII collagen that helps anchor the dermal and epidermal layers of the skin.

The lack of Type VII collagen results in severe and chronic blistering, open and painful wounds, and severe impact on internal organs, among other symptoms. These wounds typically remain unhealed for months to years and can cover a large percentage of the body. The challenges of living with RDEB are also complicated by the high risk of developing an aggressive form of skin cancer known as squamous cell carcinoma.

Without an approved therapy, RDEB care is currently limited to bandaging wounds, which must be done frequently to avoid infection. While costs vary based on the type and number of bandages, and wound size, the average cost of bandages for a 10-year-old child is approximately $120,000 per year.

Abeona is developing an autologous, gene-corrected cell therapy for RDEB. We expect to begin a Phase 3 clinical trial evaluating it in Q4 2019. Learn more about The VIITAL Study™.

Sanfilippo syndrome (MPS III)

As a genetic disease, MPS has types A, B, C, and D, which correspond to distinct gene mutations. For instance, MPS IIIA is distinguished by deficiency in the SGSH enzyme, while MPS IIIB is linked to the NAGLU enzyme.

All types of the disease are characterized by rapid neurodevelopmental and physical decline, as patients are often unable (or lose the ability) to communicate, speak, or to be responsive. The main feature is cognitive delay, impairment and progressive decline, with behavioral issues, sleep problems and frequent ear, nose or throat infections also common. More distinctive signs of the disorder include coarse facial features with thick eyebrows or a unibrow, full lips and excessive body hair for one’s age.

The underlying cause of Sanfilippo syndrome is a deficiency in a specific enzyme responsible for breaking down glycosaminoglycans, or GAGs, which accumulate in cells throughout the body resulting in rapid decline associated with the disorder.

Following assessments from pediatricians and specialists, Sanfilippo syndrome is ultimately diagnosed via a genetic test. As with any progressive disorder, an early diagnosis can lead to a better path to treatment. Learn more about how MPS IIIA is diagnosed.

Abeona is enrolling eligible patients into a Phase 1/2 clinical trial of a one-time gene therapy for MPS IIIA. Take the study eligibility survey or learn more about The Transpher A Study™.

The Company is also enrolling eligible patients into a Phase 1/2 clinical trial of a one-time gene therapy for MPS IIIB. Learn more about The Transpher B Study™.

CLN1 and CLN3 diseases

The underlying cause of the CLN1 disease is a defect in the PPT1 gene that encodes the enzyme of the same name, which is responsible for the removal of fatty acids from certain proteins. The result is the accumulation of lipopigments within cells, leading to neuroinflammation and neurodegeneration.

People with Batten disease developing symptoms later in childhood or in adulthood, have late-infantile or juvenile forms of the disease, the latter of which is known as CLN3 disease.

CLN3 disease has very similar characteristics to the infantile form of the disorder, but typically starts between 4-5 years of age when progressive loss of vision occurs. Distinguishing features of CLN3 include seizures and progressive neurological regression also develop and manifest as speech problems, behavioral changes and motor decline. Later in life, children may have involuntary muscle contractions (myoclonus), muscle spasms (spasticity), heart problems and sleep disturbances.

The underlying cause of juvenile Batten disease is a defect in the CLN3 gene which produces the battenin protein that leads to abnormal buildup of lipopigments within cells and results in neuroinflammation and neurodegeneration.

Abeona has been cleared to begin a Phase 1/2 clinical trial of a one-time gene therapy for the infantile form of Batten disease, CLN1. The Company is conducting preclinical trials of a one-time gene therapy for the juvenile form of the disease, CLN3. Learn more about these gene therapies.

Our inspiration

Epidermolysis Bullosa

Resources for Patients & Families

United States

The Dystrophic Epidermolysis Bullosa Research Association of America (debra of America) is the only U.S. nonprofit providing all-inclusive support to the EB Community, through funding research for a cure and by providing free programs and services for those with: Epidermolysis Bullosa (EB) — "The Worst Disease You've Never Heard Of."

The Epidermolysis Bullosa Medical Research Foundation was established in 1991 by Gary & Lynn Fechser Anderson at the request of Dr. Eugene Bauer, then Professor and Chairman of the Department of Dermatology at The Stanford University School of Medicine. His research team was making exciting progress of their study of EB but needed additional funding to realize their goals.

The Andersons lost two children, Chuck and Christine, to Epidermolysis Bullosa. Both children suffered deformities of the hands and feet, chronic anemia, malnutrition and growth retardation. Neither child ever weighed more than 84 pounds. The worst part of the disease was their constant pain.

The EBMRF is unique in that the Foundation pays no salaries. All work, including executive, development and administrative, is done on a volunteer basis. The Foundation prides itself on its efficiency, keeping operating costs at less than 1% of incoming donations so that a full 99% of contributions can go directly to our research programs.

The EB Research Partnership is the largest nonprofit dedicated to funding research aimed at treating and ultimately curing Epidermolysis Bullosa (EB), a group of devastating and life-threatening genetic skin disorders that affect children from birth. 

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We are working to treat and cure EB as quickly and efficiently as possible. We fulfill our mission by partnering with non-profit and for-profit organizations, foundations, individual donors, and the EB and research communities. 


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Leading researchers say treatments and a cure for EB are within reach. Though we have made significant progress, we need much greater resources in our pursuit of a cure. Partner with us in our mission to further life-saving research for EB.

Monsie

RDEB

Monsie was born with Recessive Dystrophic Epidermolysis Bullosa (RDEB) over 30 years ago and has adapted to her condition with a remarkably optimistic candor. At 16, she overcame Squamous Cell Carcinoma, a common threat among people living with RDEB. Then at 17, she met Justin, who had educated himself about the condition—an important factor as the two began a lasting friendship-turned-relationship and eventually married. The couple is stronger than ever, although they have had to legally divorce to maintain access to healthcare while residing in Utah. Jamie Hartley, an RDEB advocate became Monsie’s mentor, before tragically dying from Squamous Cell Carcinoma a few years ago. With Jamie’s memory, and Justin’s day-to-day support, Monsie continues to advocate for herself and other people living with EB, seeking new treatments, and better access to health insurance.

Sanfilippo syndrome (MPS III)

Resources for Patients & Families

United States

The Abby Grace Foundation is a non-profit organization created to improve the lives of children diagnosed with the rare, genetic, terminal disorder known as Sanfilippo Syndrome. The Foundation strives to promote awareness and contribute to scientific research, with a goal of finding a cure for Sanfilippo Syndrome.

“Ben’s dream was to be a farmer. Not only was Ben the farmer he always wanted to be, he was the best! He was responsible for the planting of the seed of hope—the hope for a cure. A seed valiantly nourished by his family and now by so many others he inspired.” –Bruce Chapin, grandfather of Blair, who also faced Sanfilippo Syndrome

Ben will always be the Sanfilippo Research Foundation’s Chief Inspiration Officer. Let him be yours – have the perseverance to move projects forward, the strength in your conviction to seek cures, the courage to understand when a different path is required and the humility to know that you cannot do it alone.

The Children’s Research Foundation was formed by Kirby’s parents in 1995 to fund medical research and find a cure for Sanfilippo Syndrome and other neuro-genetic disorders.  To date, the non-profit has granted over $3.7 million to eight research groups with more than 95% of all receipts appropriated to fund research.  We invite you to learn more about Sanfilippo Syndrome, the foundation, its work and how to help pave the way for healthy future for Kirby and others like her.

The National MPS Society exists to cure, support and advocate for MPS and ML. The journey to a cure is a long road, but it's a path we must walk. We reflect on the accomplishments made in the past, the strong will, determination and dedication to this mission that continues today, and know a future exists with cures for these devastating diseases.

The strongest love on earth is that of a parent for their child.  Cure Sanfilippo Foundation is made up of a growing group of parents across the country, who are fighting for effective treatments, and one day, a cure for Sanfilippo Syndrome.  Every family has a story, and it is a heartbreaking one for parents of children with Sanfilippo Syndrome. The Foundation's inspiration comes from these warrior parents who, despite the devastating diagnosis, will stop at nothing to change the course of this disease and to find a cure. It is love that drives them forward. With Action, comes Hope.

Team Sanfilippo Foundation is a nonprofit medical research foundation founded in 2008 by parents of children with Sanfilippo Syndrome. Our mission is to fund potential therapies that can be in clinical trials in the near future. We support Biotech, pharmaceutical and research centers with potential therapies that are underfunded and provide assistance with connecting families to companies that need information for ongoing clinical work.

Team Sanfilippo is dedicated to providing assistance to families to gain access to clinical trials, treatments and compassionate use. We help coordinate necessary genetic testing required for families to participate in clinical trials or treatments.

Team Sanfilippo remains dedicated to getting children of all ages access to clinical trials and treatments and assistance to families enrolled in clinical trials.

Australia

The Sanfilippo Children's Foundation is dedicated to progressing clinical research into the effective treatment of Mucopolysaccharidosis III, also known as MPSIII or Sanfilippo Syndrome.

Canada

Entitled “A life for Elisa” the ultimate goal of the foundation is to raise money to fund research and find a cure for Sanfilippo syndrome.

Siblings Jessica and Connor, along with their parents, have devoted their lives to bringing hope to every family who has a child afflicted with Sanfilippo.  Their community of friends, medical specialist and local business have all joined in, surrounding this family with love, prayers, financial support, and volunteering in special ways, helping to raise over $7 million for research since 1999 with a remarkable 96% of every dollar donated being committed to research.

Although Elisa Linton appeared completely normal at birth, she was diagnosed at the age of four with a rare genetic disorder called Sanfilippo syndrome, MPS lllB, for which there is no cure or treatment. Elisa lived to the miraculous age of 22 but Sanfilippo syndrome sadly claimed her life on October 31st, 2016.

Mexico

RS was established in 2012 by Janette Ojeda following the testimony of her son Inaki with Sanfilippo syndrome.  Families, doctors and volunteers work together through this organization to save the lives of children affected with Sanfilippo by supporting research to develop a treatment.

Spain

The Sanfilippo B Foundation defines its aims in the following objectives:

  1. To spread the Sanfilippo disease so that it ceases to be a problem known by few and that it becomes a reason of solidarity and knowledge for the Society.
  2. Promote research related to knowledge of the disease and possible open lines of treatment.
  3. Facilitate the dissemination of scientific advances that are produced to be easily accessible to all interested people.
  4. Participate with other associations or foundations in projects of common interest.

The mission of Stop Sanfilippo is to encourage Sanfilippo syndrome research with the objective of finding a cure or a treatment, improve the quality of life of the affected children and their families and spread knowledge about the illness in order to help achieve early diagnoses.

Switzerland

In August 2008, we were informed that our little Charlotte, 4 years old, was affected by a rare, incurable and devastating disease, Sanfilippo Syndrome. We soon discovered that she was far from being the only child afflicted with this genetic disease.  The purpose of the Foundation Sanfilippo Suisse is to help and develop ongoing research programs.   All funding the foundation receives will be affected to promising new research programs, as well as the development and follow-up of ongoing research projects.

Aislinn

MPS IIIA

Aislinn was diagnosed at the age of five with Sanfilippo syndrome type A forever turning her family’s life upside down. Her mother Amy, once a social worker, suddenly found herself reaching out to many of the same services she had referred other families to, and gained support from the Sanfilippo patient community online and National MPS Society. Brian, Aislinn’s father, utilized his connections with local businesses in Charlotte, NC and his proclivity for organizing to start a patient foundation, Aislinn’s Wish, which has raised thousands of dollars for Sanfilippo research. Along with Colin, her older brother, Aislinn’s family supports her wishes—mainly to be exuberantly happy—and continues regular schooling and therapy, reaching small milestones amidst the stark nature of the diagnosis.

Austin

MPS IIIB

Austin is entering his teen years with Sanfilippo syndrome type B and he is starting to slow down. It used to be difficult to take him out in public because he couldn’t control his energy, running amok through crowds, but now he prefers to stay home and sleeps more. His family works diligently to support his happiness these days, knowing well that they might be numbered. Austin still enjoys riding around on four-wheelers in the countryside of rural Michigan, and traveling with Sandy and Ryan, his parents, as well as with Allison and Bryce, his two siblings. The family continues to come to terms with the stark realizations of Austin’s condition while supporting him and each other in collective joy.

Batten disease (CLN1, CLN3)

Resources for Patients & Families

United States

Taylor’s Tale is one of the world’s leading voices in the fight against rare disease. Founded to honor one little girl with infantile Batten disease, today we work to build a better future for one in 10 Americans – and 350 million people worldwide – who suffer from one of more than 7,000 rare diseases. By advancing breakthrough treatments for Batten disease and advocating for life-changing rare disease legislation, we are continuing Taylor’s powerful legacy.

The Batten Disease Support and Research Association is a world without Batten disease. Its mission is to support Batten families at whatever stage they are in their journey, fund and facilitate research, and advocate for treatments and a cure. Founded in 1987, by parents seeking to build a network for those diagnosed with Batten disease, BDSRA is now the largest support and research organization dedicated to Batten disease in North America. BDSRA believes that to effectively unravel the mysteries of Batten disease, the worlds of medical science, research, and families must work together toward a common goal: discover treatments and cures.

Was originally created to fund research and find a cure for Type 1 Batten Disease (CLN1). Through this adventure we have found the importance of wellness of the mind and body. We also found that many families have a very difficult time finding equipment and the time to focus on their own well-being.  Through this we have created a program which will offer families the opportunity to get out with their loved ones by offering running chairs and handicapped accessible bikes which will fit both children and adults. We are able to sponsor families to run in events to encourage accomplishments and to build stronger relationships with loved ones.

Ireland

The Saoirse Foundation was founded by Tony and Mary Heffernan in 2010 after their daughter, Saoirse, was diagnosed with Batten Disease (Neuronal Ceroid Lipofuscinoses – NCL) – a rare and fatal neurological condition. Tony and Mary were given no information, they had no idea what to expect, and they did not know where to seek help.

Determined to spare other families this experience, Tony and Mary became advocates for families of children with rare and genetic disorders. Their awareness-raising activities and medical research initiatives led to the creation of The Saoirse Foundation, a registered non-profit charity.

Leighton

INFANTILE BATTEN DISEASE (CLN1)

When Ben and Kara first gave birth to Leighton it was a miracle in itself, as she was one of the first children diagnosed prenatally with Uniparental Disomy, meaning her first pair of chromosomes came from one parent. While she was developmentally delayed, Leighton’s early days held hope for the future and passed without major incident. However, after a doctor’s visit to deal with sleeping issues, the family found its way into the gauntlet of genetic specialists, leading to her rare and terminal diagnosis. Since then, Ben, Kara, extended family, and friends, have plunged into the world of supporting three-year-old Leighton through at-home care, and community-based activism in Ohio. This is the story of their love as a family and their local “Love for Leighton” community event and fundraiser. 

Theodore

CLN3

Theodore lives in Athens, Greece with his parents, Christos and Christina, as well as a host of supportive caregivers and aids. At the age of six, his parents suspected he was going blind and in the coming months learned that their son was born with Juvenile Batten disease. Without any resources in Greece, the family set out on their own, traveling abroad numerous times to learn more about the rare condition. Theo’s condition continues to advance as he grows, and he struggles to maintain connection with the world around him. However, he finds great joy in social gatherings, and following his favorite sport, soccer. His family continues to hold out hope that medicine can help their son despite his condition.

Access Policy

Patient Advocacy & Community Engagement

Reach out with any questions at all.

Jodie Gillon

Jodie Gillon

Email: jgillon@abeonatherapeutics.com

Vice President

Judy Doyle

Judy Doyle

Email: jdoyle@abeonatherapeutics.com

Community Engagement
Specialist