Why We Do What We Do
Our commitment to our patient communities is about responsibility.
Responsibility to seek innovation, to understand the challenges faced by patients and their families, to communicate with them clearly and openly and ultimately to develop medicines that transform their lives.
“Rhys loves everyone unconditionally. He can make anyone smile, especially on the days you need it most. He has a heart of gold.”
– Rob & Melissa, Rhys’ parents
“Kyla’s smiles, sense of humor, perseverance, and strength have reminded us to find joy in the journey. She does not give up, and neither will we.”
– John, Kyla’s dad
“Cody has a heart of gold that always finds the good in life and people. He does not judge, he is non-materialistic and he has a love for life that is very infectious.”
– Claire, Cody’s mom
“We work harder, care greater, love deeper, and hug longer. This life is not a pass/fail test, rather than a challenge of endurance.”
– Arianna’s mom
“Nathan is an absolute joy to everyone he meets. Some of his favorite things include balloons, airplanes, and anything with water.”
– Nathan’s parents
“Everyone’s not perfect, and everybody is different in their own way.”
– Reagan, Maggie’s cousin
“Happy is the man who has broken the chains
which hurt the mind, and has given up worrying
once and for all. Be patient and tough; one day
this pain will be useful to you.”
– Ovid, Metamorphoses
Clinical Trial Approach
The STARS Phase 2 clinical trial is currently enrolling participants.
We called on the Angelman syndrome community to help us design and identify the relevant endpoints of the trial. The community also helped select the final STARS clinical trial name and logo. The STARS logo was designed by Kaline, a proud parent of a child diagnosed with Angelman syndrome. The image “reaching for the STARS” is a depiction of her son, and every other person diagnosed with Angelman syndrome, standing with one foot firmly planted while using the “T” to stretch as far as they can to reach the brightest star in the sky.
We thank everyone who participated in the process. We believe this name reflects how we feel about our Angelman syndrome community, and the clinical program reflects their needs.
Phase 1 adolescent pharmacokinetic (PK) clinical trial now enrolling participants.
In addition to the Phase 2 STARS trial, we have also initiated a Phase 1 trial in adolescents with Angelman syndrome and Fragile X syndrome. The primary goal of this trial is to identify doses for use in younger patients with these disorders as well as to assess safety and tolerability.
It is proposed that decreased tonic inhibition underlies many of the behavioral changes characteristic of Angelman syndrome and Fragile X syndrome. We believe that OV101 may provide an opportunity to provide a meaningful impact to patients with both these disorders.
Rare Disorders of the Brain
About Angelman Syndrome
Angelman syndrome is a rare genetic disorder characterized by delayed development, intellectual disability, severe speech impairment, problems with movement and balance, seizures, sleep disorders and anxiety. The estimated prevalence of Angelman syndrome is between 1 in 12,000 to 20,000 people. The genetic cause of Angelman syndrome has been traced to mutations and other disruptions of the ubiquitin protein ligase E3A (UBE3A) gene. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or walking, seen between the ages of 6 and 12 months. Due to its similarity to other disorders, it is frequently misdiagnosed.
About Fragile X Syndrome
Fragile X syndrome (FXS) is a genetic condition that results in intellectual disability, anxiety disorders, behavioral and learning challenges and various physical disabilities. FXS has an estimated prevalence of 1 in 3,600 to 4,000 males and 1 in 4,000 to 6,000 females. FXS is caused by mutations in the Fragile X mental retardation gene (FMR1), resulting in the lack of fragile X mental retardation protein expression that is required for normal brain development. The current standard of care relies on symptomatic treatments to address attention deficit, anxiety, irritability and sleep disorders, including antipsychotics and antidepressants. FXS patients also may experience seizures, which are treated with traditional anticonvulsants.
About Dravet Syndrome
Dravet syndrome is a severe form of childhood epilepsy that typically presents during the first year of life. It is largely caused by mutations in the SCN1A gene. Children experience frequent seizures, loss of muscle control, cognitive deficits and, in approximately 10 percent of cases, death before the age of 12 years. While some patients may survive into adulthood, their long-term intellectual development and seizure outcomes are typically extremely poor. The incidence of Dravet syndrome in the United States ranges from 1 in 15,700 to 1 in 20,900 births. Patients are frequently treated with combinations of classic anti-epileptic drugs, none of which are particularly effective. No drugs have been approved specifically for the treatment of Dravet syndrome in the United States and only one drug, the anticonvulsant stiripentol, has been approved in Europe.
Lennox–Gastaut syndrome is a rare disorder that is often diagnosed between three and five years of age. Patients diagnosed with Lennox–Gastaut syndrome experience multiple seizure types that are difficult to manage and have many of the same symptoms as other rare pediatric epilepsies. Studies estimate that Lennox–Gastaut syndrome affects approximately 14,500 to 18,500 children under the age of 18 and over 30,000 children and adults in the United States. It is also estimated that between 1 percent and 4 percent of childhood epilepsies are a result of Lennox–Gastaut syndrome. Only 10 percent of these patients have seizures that are fully controlled by existing therapies.
About Tuberous Sclerosis Complex
Tuberous Sclerosis Complex is a genetic disorder, often diagnosed in childhood, that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The brain and skin are the most affected organs. Tuberous Sclerosis Complex results from a mutation in tumor suppression genes TSC1 or TSC2. Tuberous Sclerosis Complex is estimated to affect approximately 50,000 patients in the United States and occurs in 1 of 6,000 live births. The most common symptom of Tuberous Sclerosis Complex is epilepsy, which occurs in 60 to 90 percent of patients, of which 70 percent experience seizure onset in their first year of life. Despite available therapies, a significant number of Tuberous Sclerosis Complex patients have treatment-resistant seizures. Tuberous Sclerosis Complex is commonly associated with cognitive impairment in 50 percent of patients, autism spectrum disorders in up to 40 percent and neurobehavioral disorders in over 60 percent of patients.