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We have an FDA-approved treatment for tardive dyskinesia and Huntington’s disease chorea, as well as a robust pipeline including multiple compounds in mid-to-late phase clinical development across our core therapeutic areas.
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TD is associated with prolonged use of antipsychotic medication that may be necessary to treat individuals living with mental illnesses, such as bipolar disorder, major depressive disorder, schizophrenia and schizoaffective disorder. Treatment with antipsychotics are thought to result in irregular dopamine signaling in a region of the brain that controls movement.
There are approximately 600,000 people in the United States living with TD, and approximately 65% have not yet been diagnosed.
HD is a hereditary progressive neurodegenerative disorder in which the loss of certain neurons within the brain causes motor, cognitive, and psychiatric symptoms. Symptoms generally appear between the ages of 30 and 50 years and worsen over a 10- to 25-year period. HD is estimated to affect approximately 41,000 adults in the U.S., with more than 200,000 at risk of inheriting the disease.
Chorea can affect various body parts and interfere with motor coordination, gait, swallowing, and speech. HD chorea can impact all areas of daily life for patients. As chorea worsens, the ability to function becomes more difficult.
Approximately 15% of the estimated 600,000 to 1 million people living in the U.S. diagnosed with cerebral palsy live with dyskinesia (uncontrollable muscle movements).
There are no approved treatments for DCP.
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EE-CSWS typical onset occurs between the ages of two and four years old, with seizures occurring primarily during sleep. The seizures interfere with processes critical to learning and memory. Diagnosis of EE-CSWS is based on a unique electroencephalogram (EEG) pattern of electrical status epilepticus during sleep (ESES), together with cognitive stagnation and regression. Following puberty, seizure frequency tends to decline, however, developmental delays often remain.
EE-CSWS impacts less than 2% of children living with epilepsy worldwide. There is currently no approved treatment for the disorder.
SCN8A-DEE causes a range of symptoms including severe epilepsy, early onset developmental delay, cognitive impairment, and other medical challenges. Typical onset occurs around 4 months of age.
There are no approved therapies for this form of pediatric epilepsy.
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Congenital Adrenal Hyperplasia (CAH)
CAH is a group of rare autosomal recessive disorders that result in an enzyme deficiency (~95% due to 21-hydroxylase [21-OHD] deficiency) that alters the production of adrenal hormones.
CAH is a group of genetic conditions that affects the adrenal glands. The adrenal glands produce hormones that are essential to life. In about 95% of CAH cases, a genetic change (mutation) results in the deficiency, or lack, of the enzyme 21-hydroxylase (21-OHD). 21-OHD is needed for the adrenal glands to make two important hormones: cortisol and aldosterone. Cortisol allows the body to respond to injury, stress, or illness. Aldosterone helps regulate blood pressure and salt levels. A severe deficiency of 21-OHD stops the adrenal glands from making cortisol, and in about 75% of these cases, it also affects aldosterone production. This type of severe deficiency is called classic CAH, and it’s estimated to affect up to approximately 30,000 people in the US and 50,000 people in Europe. If left untreated, classic CAH can cause excessive salt loss, dehydration, and even death.
In classic CAH, the body doesn’t make enough cortisol and makes too many adrenal androgens. This happens in a part of the body called the hypothalamus-pituitary-adrenal (HPA) axis. When cortisol is low, a signal is sent to the hypothalamus to release a hormone called corticotropin-releasing factor (CRF). CRF binds to corticotropin-releasing factor type 1 (CRF1) receptors in the pituitary gland to signal the release of adrenocorticotropic hormone (ACTH). ACTH then signals the adrenal glands to produce androgens, aldosterone, and cortisol. When there is enough cortisol in the body, the hypothalamus stops releasing CRF. But in untreated or undertreated classic CAH, there isn’t enough cortisol. That means the body keeps making CRF, leading to an increase in CRF1 receptor activity and, therefore, ACTH. Then the high levels of ACTH cause the adrenal glands to produce too many androgens.
The only treatment option currently approved by the US Food and Drug Administration for classic CAH is glucocorticoids (GCs). These are commonly called steroids. GCs are used to treat cortisol deficiency and to help decrease the production of androgens. However, greater-than-normal GC doses are often needed to reduce the high levels of CRF and ACTH that result in androgen excess. Taking these higher doses of GCs long term can lead to serious side effects, including weight gain, bone loss, and increased risk of diabetes, heart disease, and infection. They can also affect mental health and cognition, causing changes in mood and memory. On the other hand, taking lower GC doses can result in androgen excess. This can lead to growth and development problems, early puberty, and height below full growth potential in childhood, as well as acne, excessive hair growth, menstrual irregularities in females, and adrenal rest tumors and fertility problems in both sexes.
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As one of the leading causes of disability worldwide, schizophrenia often results in significant emotional burden for those who experience symptoms, as well as their family and friends. It impacts approximately 24 million people worldwide. Approximately 33% of patients with schizophrenia fail to respond to current antipsychotic therapy.
MDD is characterized by a persistently depressed mood, loss of interest, lack of enjoyment in daily activities, and decreased energy that can impact normal daily functioning, relationships, and overall quality of life. Of the more than 16 million people in the U.S. who live with MDD, about one-third do not respond to available antidepressants.
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Symptoms of endometriosis include painful periods, pelvic pain between periods, and pain with sex. Estrogen fuels the growth of lesions that can occur on the ovaries, the fallopian tubes, or other areas near the uterus, such as the bowel or bladder.
According to researchers, 7.5 million women in the U.S. are diagnosed with endometriosis, with 3 million diagnosed with moderate to severe endometriosis.
*All commercialization and marketing by AbbVie Inc.
Uterine fibroids are most often seen in women between ages 30 to 40 but can occur at any age. Uterine fibroids are the most common pelvic growth, affecting around 20% of all women by age 59. Uterine fibroids are the leading cause of infertility.
Some common symptoms associated with uterine fibroids include heavy menstrual bleeding, painful periods, vaginal bleeding at times other than menstruation, anemia, pain in the abdomen or lower back, pain during sex, difficulty urinating or frequent urination, constipation, rectal pain, or difficulty getting pregnant.
*All commercialization and marketing by AbbVie Inc.
References
2. MedlinePlus. Movement disorders. Accessed July 12, 2022. https://medlineplus.gov/movementdisorders.html
3. Epilepsy Foundation. Who can get epilepsy? Accessed July 12, 2022. https://www.epilepsy.com/learn/about-epilepsy-basics/who-gets-epilepsy
4. National Organization for Rare Disorders. Congenital adrenal hyperplasia. Accessed July 12, 2022. https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/
5. Our World in Data. Mental health. Accessed July 12, 2022. https://ourworldindata.org/mental-health
6. National Library of Medicine. MedlinePlus. Uterine fibroids. Accessed July 12, 2022. https://medlineplus.gov/uterinefibroids.html#
7. National Library of Medicine. MedlinePlus. Endometriosis. Accessed July 12, 2022. https://medlineplus.gov/endometriosis.html
Pipeline
Learn more about SCN8A from patients and healthcare professionals
From new parents to an SCN8A diagnosis
A good day for Elliott. A bad day for Elliot.
A diagnosis for the entire family
The search for answers, hope, and a future for all SCN8A kids.
Unremarkable pregnancy to an SCN8A diagnosis
Caring for Stella and their hopes for the future
Hear from Dr. Schreiber on SCN8A History, Early Diagnosis and Hope for Future Medication
Learn more about CAH from patients and healthcare providers
Madison’s story
CAH Diagnosis and Life Challenges
Living with CAH
Achieving Androgen Control in CAH
CAH Treatment Challenges
Carlos’ Journey Living with Schizophrenia
Carlos’ Journey Living with Schizophrenia
Hear more of Carlos’ Story
Hear more of Carlos’ Story
Learn more about CAH from patients and healthcare providers
Madison’s story
CAH Diagnosis and Life Challenges
Living with CAH
Achieving Androgen Control in CAH
CAH Treatment Challenges
