Patients & Families

In the Community

Abeona employees play an active role in supporting our patient communities by putting advocacy into action. We frequently participate in special events, patient conferences, and industry forums that raise awareness of the diseases we seek to treat, educate the general public, and inspire others to advocate on behalf of patients.

Ab 1

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, with children representing about 50% of people living with a rare disease and rare diseases accounting 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, with less than 5% of all rare diseases having 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. Some of these new approaches use a neutralized virus to deliver a functional copy of a mutated gene. 

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 initiate the pivotal Phase 3 VIITAL™ study evaluating EB-101 for the treatment of RDEB in Q1 2020. 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 three Phase 1/2 clinical trials of one-time gene therapies for Sanfilippo syndrome. The Transpher A Study™ is intended for younger, higher-functioning patients with MPS IIIA, while Study ABT-003 is enrolling eligible patients with middle and advanced phases of the disease. The Company is also enrolling eligible patients with MPS IIIB into The Transpher B Study™. Learn more about these ongoing clinical trials.

Batten disease (CLN1 and CLN3)

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.


Rare Genetic Diseases

With the mission to eliminate the challenges of rare and genetic diseases, Global Genes raises awareness, provides public and physician education, builds community support through social media, and funds research to find treatments and cures.

The EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy. The foundation provides the training, education, resources and opportunities to make your voices heard. By activating the patient advocate, the organization can change public policy and save lives.

NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 280 patient organization members, is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and patient services.

iCAN is a worldwide consortium of children’s advisory groups, known as Kids Impacting Disease Through Science (KIDS) and Young Persons Advisory Groups (YPAGS). These dedicated youth member groups work in unison around the world to provide a voice for children and families in medicine, research, and innovation.

GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.

CORD is Canada’s national network for organizations representing all those with rare disorders. The organization provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada.

EURORDIS is a unique, non-profit alliance of 869 rare disease patient organizations from 71 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe. 

Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. It aims to provide high-quality information on rare diseases and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAnumber), essential in improving the visibility of rare diseases in health and research information systems.

This public organization’s mission is to help people with rare diseases by contributing to the search for methods of diagnosis and treatment of rare diseases; to promote the implementation of the constitutional rights of patients with rare diseases in the Russian Federation; and to help patients with rare diseases. For 7 years now, it has been communicating daily with orphan patients, helping to solve many of the special problems that the disease poses to a person. 

The ARM Foundation for Cell and Gene Medicine is dedicated to providing the education, information, and research needed to accelerate patient awareness of and access to transformative therapies.

The American Society of Gene & Cell Therapy is the primary professional membership organization for gene and cell therapy. The mission of ASGCT is to advance knowledge, awareness, and education leading to the discovery and clinical application of genetic and cellular therapies to alleviate human disease.

NCATS was established to transform the translational science process so that new treatments and cures for disease can be delivered to patients faster. As one of 27 Institutes and Centers (ICs) at NIH, NCATS strives to develop innovations to reduce, remove or bypass costly and time-consuming bottlenecks in the translational research pipeline in an effort to speed the delivery of new drugs, diagnostics and medical devices to patients.

Genetic Alliance engages individuals, families, and communities to transform health. The organization is resolute that people come first. It partners with individuals and communities to transform health systems to respond to what people most need.

Accelerating diagnosis and treatment options for patients with rare diseases through public-private partnerships, advocating for mandatory newborn screening. Public Policy development/implementation to cover rare, undiagnosed and genetic diseases patients in India. Such as Rare Disease Policy and Orphan Drug Policy. Connecting 70+ million patients with any of 7000+ diseases in India in collaboration with international Consortia such as IRDiRC, UDN, ICORD etc. Organizing national and international conferences to bring all stakeholders of rare diseases together for debates and discussions. Facilitate & encourage research & Orphan drug development activities.

CPN is a destination created by families, for families, to support and strengthen them as they care for very sick children. Here you will find wisdom from fellow parents who understand, as well as resources developed by experts to help you cope and get through each moment.

A service of the National Library of Medicine, provides access to over 12 million MEDLINE citations back to the mid-1960's and additional life science journals. PubMed includes links to many sites providing full text articles and other related resources.

Informative, reliable, and user-friendly web resource for patients and parents supported by National Library of Medicine and National Institutes of Health.

Epidermolysis Bullosa

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. 


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. 

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.

Camp Wonder is a FREE summer camp for children with any skin disease, ages 6 -16. Each year, children from around the US with ANY chronic skin disease take a break from being a patient for a week and focus on just being a kid. Camp Wonder is a special place free of judgment and stares! Camp is located in Livermore, CA. 

Formed in response to unmet research needs in pediatric dermatology that require collaborative, multicenter efforts, dermatology leaders created the Pediatric Dermatology Research Alliance in 2012.  

The Society's objective is to promote, develop, and advance education, research, and care of skin disease in all pediatric age groups. PeDRA is the research arm of the Society for Pediatric Dermatology.

United Kingdom

DEBRA is the national charity that supports individuals and families affected by Epidermolysis Bullosa (EB) – a painful genetic skin blistering condition which, in the worst cases, can be fatal. There are at least 5,000 people living with this devastating condition in the UK and 500,000 worldwide. DEBRA focuses its work in two areas; the charity provides care and support to individuals and families living with EB and funds pioneering research to find effective treatments and, ultimately, a cure for EB.

Sanfilippo syndrome (MPS III)

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.

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 the goal of finding a cure for Sanfilippo Syndrome.

The mission of Reagan’s Hope is to raise awareness and funds for Sanfilippo research that will lead to a cure, and to instill and sustain hope for families impacted by the disease.

A destination for you and your loved ones to get the latest news and resources on specific neurologic disorders and brain health. Powered by trusted neurologists from the American Academy of Neurology, we are the only website backed by more than 36,000 neurologists committed to keeping you and your family better informed about neurologic disorders and how to keep your brain healthy.

The Child Neurology Foundation connects partners from all areas of the child neurology community so those navigating the journey of disease diagnosis, management, and care have the ongoing support of those dedicated to treatments and cures.

We partner with Invitae, a genetic testing company, that offers sponsored, no-charge genetic testing for lysosomal storage diseases called Detect Lysosomal Storage Diseases, follow the link to learn more about the program. This page has helpful information about the program’s eligibility criteria, test selections, sponsored genetic counseling, and ordering procedures.  Along with your child’s physician you can decide if this testing would be helpful for your child.


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.

A patient support group for those affected directly or indirectly by MPS and related diseases. The group supports families to access appropriate care and treatment, and connects them to other members for mutual support, especially during times of loss and bereavement. The society shares educational resources and supports local family days and bi-annual conferences which brings together the MPS community, expert doctors and scientists to learn about advances in care, research and treatment. The group also connects and shares information with the MPS and broader community via its website and Facebook page, as well as the MPS and Related Diseases Society Australia.


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.

Serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.


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.


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.


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.

A group of patients and parents affected by MPS, hence this is a patient organization which aims to support persons affected by MPS that wants to give moral and financial support. The group helps patients dealing with pharma, medical and insurance issues, with government problems, among others. We want to improve QoL for all affected and inform society about the problems coming with MPS.


Founded by parents of children with rare diseases, doctors specializing in genetic studies, researchers, pharmacists, business owners concerned about the well-being of society and idealistic and active in human rights, who felt the need to share their experiences and work towards the better quality of life of these children and their families.

A not-for-profit organization in Brazil created in 2016 by the parents and friends of Bernardo dos Santos Carlson, who was diagnosed in the Sanfilippo Syndrome in 2015. The foundation has the objective of supporting and pushing scientific research for treatments and cure of Sanfilippo Syndrome, as well as for a better quality of patients and their families. It is also engaged in promoting awareness of rare diseases, in particular Sanfilippo Syndrome, as well as their impact on affected families and society; disseminating information on scientific and reliable Sanfilippo Syndrome procedures to affected people and their families, health professionals and society in general; encouraging families affected by rare diseases, in particular Sanfilippo Syndrome, to get involved and engage; and promoting fundraising for investments in research.


A private non-profit organization created to help families and children who suffer from Sanfilippo Syndrome or MPS III in Colombia, providing support and guidance from our experience to improve the quality of life of affected children and their families.


MPS Europe was established by national MPS societies from 12 European countries: Austria, Denmark, Germany, Ireland, Italy, Hungary, Netherlands, Serbia, Spain, Sweden, Switzerland and UK. It’s aim is to gather national MPS societies and advocate for all MPS patients in Europe (including EU member states and other countries, non-EU members) to work together in the collective interest of the MPS community.

RareConnect is an initiative by EURORDIS (European Rare Disease Organization) and National Organization for Rare Disorders (NORD) that provides a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. The RareConnect website has an online community for patients and families with Sanfilippo Syndrome.


It’s purpose is to deepen the knowledge on the diseases through exchanges of information between the patients and their families, enhance the mutual friendship between members, and to also try to find the cause of these diseases and establish the means to treat them, while making the public more aware of these diseases, in an effort to improve the welfare of the patients and their families.


The organization is always ready to lend a helping hand to families with mucopolysaccharidosis, ready to defend the rights of patients and to help improve the quality of medical care in Russia.


The main purpose of the association is to promote good care, treatment and habilitation for the diagnostic carriers and to disseminate information about the MPS diseases, while supporting each other.

United Kingdom

The MPS Society is the only registered UK charity providing professional support to individuals, families and professionals affected by MPS and related diseases throughout the UK.


MLDA or Pertubuhan Penyakit Lysosomal Malaysia (PPLM) is a non-profit organization set up by a group of parents. It is to advocate for patients’ right and educate general public about various life-threatening lysosomal storage diseases (LSD).

New Zealand

A charitable trust that works to improve contacts between families affected by lysosomal diseases, support research into the causes and treatment of lysosomal diseases, and improve clinical care of patients.


Our aims are: To act as a support network for those affected by MPS and Related Diseases; to bring about more public awareness of MPS and Related Diseases; and to promote and support research into MPS and Related Diseases.


A German collaborative to assist in early diagnosis.

Batten disease (CLN1, CLN3)

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.

The Haley’s Heroes Foundation exists to increase awareness of Batten Disease, specifically CLN1, while  funding and finding a cure or treatment. The saying “it takes a village” has never been truer. We are committed to hope...we are committed to research...we are committed to finding a cure. Please join us on this journey and help us find a solution for not just Haley, but all those families out there coping with this disease. Our hope is that any progress made on one genetic disorder will help those coping with other genetic disorders. Noah’s Hope-Hope 4 Bridget The mission is to raise awareness and funds for research of Batten disease. Noah’s Hope continues to recruit and follow-up with scientists and pursue medical research that will someday yield more treatments for Batten disease. The VanHoutans (Noah’s Hope) had two children affected by CLN2 Batten disease, Laine and Noah. The Kennicotts (Hope 4 Bridget) had one daughter, Bridget, who was affected by CLN2 Batten disease. Noah, Laine, and Bridget are angels who inspire us daily.

The mission is to raise awareness and funds for research of Batten disease.  Noah’s Hope continues to recruit and follow-up with scientists and pursue medical research that will someday yield more treatments for Batten disease. The Van Houtans (Noah’s Hope) had two children affected by CLN2 Batten disease, Laine and Noah. The Kennicotts (Hope 4 Bridget) had one daughter, Bridget, who was affected by CLN2 Batten disease. Noah, Laine, and Bridget are angels who inspire us daily.


The BDSRA is the Australian chapter of the Batten Disease Support and Research Association. BDSRA Australia is dedicated to improving the well-being of patients and families affected by Batten disease in Australia. BDSRA Australia seeks to support Australian families affected by Batten disease; fund vital research in this therapeutic area; and advance awareness of Batten disease in Australia. BDSRA Australia's Medical and Scientific Advisory Board is comprised of leading medical and allied health experts in Australia with experience in diagnosis, treatment and management of Batten disease. BDSRA Australia also maintains a national register of patients affected by Batten disease.


The NCL Foundation is the largest single sponsor of scholarships in this field and connects research worldwide.


The association funds the National Database of NCLs, that gathers patients’ clinical and diagnostical data with the natural history of the disease, in order to enhance the knowledge of the disease among doctors and improve care’s quality.


The BDFA’s mission is to enable everyone who is affected by Batten disease to live life to the full and to secure the care and support they need until we find a cure. The BDFA offers informed guidance and support to families and the professionals who work with them as well as actively increasing awareness of the disease and funding future research to identify potential therapies and ultimately a cure.

Our Inspiration

Epidermolysis Bullosa


1984 – 2020


Monsie was born with RDEB and adapted to her condition with a remarkably optimistic candor during her lifetime. 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. Sadly, Monsie succumbed to Squamous Cell Carcinoma in 2020. She was a strong advocate for herself and other people living with EB, and her determination lives on in those she touched during her far too brief lifetime. Read on to learn more about Monsie’s brave journey. 

Sanfilippo syndrome (MPS III)



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 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)



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 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

Reach out with any questions at all.

Sarah Friedhoff

Sarah Friedhoff


Associate Director, Patient Advocacy and Clinical Affairs