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

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

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

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

Arianna

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

Nathan is an absolute joy to everyone he meets. Some of his favorite things include balloons, airplanes, and anything with water.

– Nathan’s parents

Maggie

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 will begin enrolling participants soon. 

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.

Learn more about the STARS trial

 

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Rare Diseases of the Brain

ANGELMAN
SYNDROME
FRAGILE X
SYNDROME

About Angelman Syndrome

Angelman syndrome is a rare, genetic disorder that causes developmental disabilities and neurologic problems, such as difficulty speaking, balancing and walking, as well as other symptoms such as anxiety, sleep disturbances and seizures. The most common, genetic cause is a deletion of the Ubiquitin protein ligase E3A (UBE3A) gene located on chromosome 15. 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, misdiagnosis is frequent.

About Fragile X Syndrome

Fragile X syndrome (FXS) is thought to be the most common inherited form of intellectual disability with an estimated prevalence of 1 in 4,000 males and 1 in 8,000 females. It is considered to be the most common known genetic cause of autism, with approximately 25-30 percent of children with FXS meeting the full diagnostic criteria for autism, and approximately 5 percent of children with autism carrying the Fragile X mutation. The cause of FXS is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in the lack of fragile X mental retardation protein expression which is required for normal development.

Intellectual disability and behavioral problems are common in males diagnosed with FXS. Males with FXS have moderate-to-severe intellectual disability and females range from normal to moderate impairment. Individuals with FXS are at increased risk for a range of co-occurring behavioral problems that may cause limitations in their academic, adaptive, daily living function and social interactions. The most common behavioral issues include attention problems, hyperactivity, anxiety, aggression, poor sleep and self-injury.