Patients & Families

Patient Affairs and Community Engagement

The involvement of the individuals, their family members and caregivers, advocacy organizations, and the supporting community is significant to Abeona’s mission of advancing treatments for rare diseases. It is how we began and a top priority as we continue our progress in developing potential gene and cell therapies for rare, life-threatening diseases for Sanfilippo Syndrome, Epidermolysis Bullosa, and Batten disease.

The children and adults impacted by these rare, devastating diseases and those who care for them can receive focused communication and information through our Patient Affairs and Community Engagement team. Information on gene therapy, the drug development process, available resources, and Abeona’s specific programs are available through this single point of contact. Additionally, our team seeks input from the communities we are engaged with to drive strong communication and incorporation of community priorities and needs, as well as provide insight into the experiences and knowledge held.

Our aim is to serve as a connection point between the communities we serve and the broader team at Abeona, while seeking opportunities and means to reach mutual goals.

What are Rare Diseases?

A Disease is rare when it affects fewer than 200,000 Americans at any given time or fewer than 1:2,000 people in Europe.

There are nearly 7,000 rare diseases, which may involve chronic illness, disability, and often, premature death. More than 25 million Americans and 30 million Europeans have one.

While rare diseases can affect any age group, about 50% of people affected are children (15 million); and rare diseases account for 35% of deaths in the first year of life.

These rare diseases are often poorly diagnosed, very complex, and have no treatment or not very effective treatment—over 95% of rare diseases do not have a single FDA or EMA approved drug treatment. However, most rare diseases are often caused by changes in genes—80% are genetic in origin and can present at any stage of life.

RARE DISEASE FACTS

  • More than 7,000 known with more discovered every year
  • Over 350 million people affected worldwide
  • 80% are caused by a genetic defect
  • 50% of those affected are children
  • 30% of those children will not live to see their 5th birthday
  • 95% have no approved therapy or drug on the market

Patient & Family Stories + Resources

Sanfilippo Syndrome

Sanfilippo syndrome, otherwise known as Mucopolysaccharidosis (MPS) III, is a group of four genetic diseases, referred as: MPS IIIA, MPS IIIB, MPS IIIC or MPS IIID, that are among 60 known lysosomal storage disorders. Children with MPS III are missing the enzyme needed to break down used mucopolysaccharides (long chains of sugar molecules); specifically, heparan sulfate (HS).

Learn more about Sanfilippo Syndrome

With the missing enzyme, cells within the body are not functioning properly and are not able to fully break down and replace HS, a material which is necessary for building connective tissues.

The partially broken down HS remains stored in cells of the body causing progressive damage. Infants and even toddlers may not show signs of the disease, but as more cells are damaged throughout the body, symptoms gradually appear. Children begin to show neurological and physical decline.

Some examples might include: speech, walking, eating, difficult behavior and sleep issues. This regression continues to full loss of speech, ability to feed oneself, and eventually the ability to transition and walk independently, leading to a severely shortened lifespan.

The combined incidence of Sanfilippo is estimated to be 1 in 70,000 births. To date, there is no cure and treatments are supportive in nature.

Our products, ABO-101 and ABO-102, are clinical stage one time intravenous gene therapy treatments of MPS IIIA and MPS IIIB, respectively.

Resources for Patients & Families

Coming soon

Borja

MPS IIIA

Borja is an eight-year-old boy living in a small town in Andalusia, Spain who was diagnosed with Sanfilippo syndrome before turning three. Since then, his mother Angeles, and his father Borja Sr., have struggled with the harsh realities of the disease, which has no current treatments or cure. They have watched Borja lose physical and cognitive abilities dramatically over the last few years, including the loss of speech. Nevertheless, he loves to play and strum his guitar. Borja’s parents utilize extended family and their local community for support as well as Sanfilippo MPS España. Borja’s has a younger brother Confalo, who was not born with MPS, a great relief to the family.

Read Borja's full story

Full story coming soon.

Epidermolysis Bullosa

Epidermolysis Bullosa (EB) is a group of life threatening genetic skin disorders impacting children that is characterized by skin blisters and erosions all over the body. Recessive Dystrophic Epidermolysis Bullosa (RDEB) patients lack functional type IIV collagen due to a mutation in COL7A1.

Learn more about Epidermolysis Bullosa

Skin blisters cause a considerable amount of intense pain for EB patients, and the disease is often complicated by the development of an aggressive form of squamous cell carcinoma.

Our product, EB-101, is a clinical stage gene-corrected skin graft for the treatment of RDEB patients who are often called butterfly children.

Resources for Patients & Families

Coming soon

Monsie

RDEB

Monsie was born with Recessive Dystrophic Epidermylosis 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.

Read Monsie's full story

Full story coming soon.

Batten Disease

Batten Disease, otherwise known as Neuronal Ceroid Lipofuscinosis (NCL) or CLN3 is another rare and inherited lysosomal storage disorder that impacts children. Juvenile NCL (JNCL) typically appears between 4 and 7 years of age as a result of mutations in the CLN3 gene. 

Learn more about Batten Disease

Often the first noticeable sign of JNCL is a change in vision which declines rapidly, resulting in blindness. As the buildup of waste product in cells continues, children lose previously acquired skills such as the ability to speak in complete sentences as well as the ability to walk or sit. They also develop movement issues such as rigidity or stiffness, slow or diminished movements and stooped posture. Beginning in mid- to late childhood, children may have recurrent seizures (epilepsy), heart problems, behavioral challenges, anxiety, dementia, and difficulty sleeping. Most live into their twenties or thirties. As of yet, no specific treatment is known that can halt or reverse the symptoms of juvenile Batten disease. The juvenile form is the most common of neuronal ceroid lipofuscinoses (NCLs) that in total affect an estimated 2 to 4 in 100,000 births in the United States.

Infantile Neuronal Ceroid Lipofuscinosis (INCL), also known as infantile Batten disease or CLN1 is another form of Batten disease similar to JNCL, presenting with visual impairment, speech and motor deterioration, and seizures. However, INCL is typically earlier onset—in the first 1-3 years of life—and progresses more quickly than JNCL, with children living into mid- to late childhood. INCL is caused by a defect in the CLN1 gene resulting in enzymatic deficiencies in palmitoyl protein thioesterase 1 (PPT1). This deficit causes accumulations in the lysosome and subsequent cell death, particularly in neurons. INCL impacts 1:100,000 live births and there are currently no FDA approved treatments.

Our products, ABO- 201, and 202, are preclinical programs for the treatments of both CLN3 and CLN1.

Resources for Patients & Families

Coming soon

Alex

Juvenile Batten Disease (CLN3)

Alex lost her older sister, Audreanna in 2014 to Juvenile Batten disease, the same condition she is battling. Being four years younger than her late sister means that Alex and her family have all watched the disease progress, seeing what hardships it brings. The girls’ father Joe, and stepmother, Chrissy (who was once Alex and Audreanna’s at-home nurse) are now Alex’s primary caretakers. In addition to this significant commitment, Joe must also work construction to pay the bills. Along with Coreena and baby Joseph, this non-traditional NewJersey-based family balances the severity of Alex’s condition (her blindness, motor and speech difficulties) with comradery, bravery, and immense love.

Read Alex's full story

Full story coming soon.

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. 

Read Leighton's full story

Full story coming soon.

Clinical Trials

ABO-102, Phase I/II Clinical Trial
EB-101, Phase I/II Clinical Trial
ABO-101, Phase I/II Clinical Trial
ABO-102, Phase I/II Clinical Trial

Study: Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
Indication: MPS IIIA (Sanfilippo A Syndrome)
Study Type: Interventional
Status: Active
Link: Clinical Trials Listing

EB-101, Phase I/II Clinical Trial

Study:Phase I/II Gene Transfer Clinical Trial of NCT01263379
Indication: RDEB (Epidermolysis Bullosa Dystrophica)
Study Type: Interventional
Status: Active, This study is currently recruiting participants
Additional Information: Clinical Trials Listing

ABO-101, Phase I/II Clinical Trial

Study:Phase I/II Gene Transfer Clinical Trial of rAAV9.CMV.NAGLU
Indication: MPS IIIB (Sanfilippo B Syndrome)
Study Type: Interventional
Status: Active
Additional Information: Clinical Trials Listing

Pre-Approval Access Policy

Abeona Pre-Approval Access Policy for Investigational Therapies

Patient Affairs and Community Engagement Team

Reach out to us with any questions at all – we are here for you.

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Michelle Berg

Vice-President
Patient Affairs and Community Engagement

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Judy Doyle

Community Engagement
Specialist

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