Rare Disease Patient Advocacy
Shionogi is committed to the research and development of innovative medicines that address unmet medical needs for people worldwide. Rare diseases affect individuals and families around the world and treatment options are often limited. Our current rare disease areas of focus include Fragile X syndrome (FXS), Jordan’s syndrome and Pompe disease.
<200K
people affected by a condition for it to be considered rare in the U.S.
10K+
rare diseases have been identified globally
<5%
of rare diseases have approved treatments
~50%
of people in the U.S. with rare diseases are younger than 18 years of age
~5 years
is the average time to receive a rare disease diagnosis
72%
of rare diseases are genetic
Fragile X Syndrome
FXS is the most common inherited cause of intellectual disabilities and the leading single-gene cause of autism spectrum disorder. FXS can impact many aspects of daily life, including an individual's ability to care for themself and communicate with others.
FXS is caused by a genetic mutation of the FMR1 gene on the X chromosome, with manifestations that can vary greatly across individuals. Males have only one X chromosome, so when that chromosome carries the Fragile X mutation, they often experience substantial intellectual challenges. Since females have two X chromosomes, when one is a "Fragile X" chromosome and the other is unaffected, the unaffected X chromosome may compensate, resulting in females with FXS often being less affected than males.
- We are in the analysis and validation phase for EXPERIENCE-301 (adult study) and EXPERIENCE-204 (adolescent study). We will share our findings once both sets of results are available.
- EXPERIENCE-302 (the open-label extension study) remains open for previously enrolled participants who have completed EXPERIENCE-301 (adult study) or EXPERIENCE-204 (adolescent study).
Fragile X Caregiver Stories
Rene's Story
Kara's Story
Diane's Story
Denise's Story
Ilana and Adam's Story
Jessie's Story
Jordan’s Syndrome
A Phase 2 randomized, double-blind, placebo, controlled study (NCT06717438) assessing the safety and tolerability of zatolmilast in participants ages 9–45 years with PPP2R5D neurodevelopmental disorder (Jordan's syndrome) is fully enrolled and no longer accepting new participants.
Late-Onset Pompe Disease
Late-onset Pompe disease (LOPD) is a rare congenital metabolic disorder that affects about one in every 22,000 births worldwide. In people with Pompe disease, a deficiency of acid alpha-glucosidase (GAA), an enzyme necessary for the breakdown of glycogen, results in the accumulation of glycogen in tissues throughout the body, especially in muscles. This can cause severe weakness and respiratory issues leading to respiratory insufficiency, wheelchair dependency and a shortened lifespan. Despite significant progress in diagnosis in countries with newborn screening programs, identifying LOPD in people who are not screened at birth remains challenging. Its rarity, wide range of clinical presentations and overlap with other neuromuscular disorders can lead to delays in diagnosis.
Learn more about Pompe disease from the International Pompe Association (IPA) and Pompe Alliance.
