Our unrelenting commitment to you.
Advocate boldly, care fiercely.
We collaborate with families and patient advocacy organizations to identify and advance shared goals.
We are fiercely compassionate and fearlessly dedicated to the patients and families we serve.
“At Jaguar, patients and families are our north star. You inspire each of us to get out of bed and work hard every day. We listen closely to hear your perspectives. We purposefully include the community as partners in the drug development process. We hope that by working together we can support patients and families on their journeys, and advance new treatment options for those with severe genetic diseases.”
“We strive to build collaborative, transparent, and inclusive two-way relationships with patient advocacy groups. The patient community is a core part of our team, and we are committed to listening to your experiences and making sure your voices are heard every step of the way. You are experts, and we are grateful to partner with you.”
“We endeavor to build a sense of community as we work together to better understand the patient perspective. This allows us to focus on truly addressing the needs and challenges of patients and families affected by severe genetic diseases.”
“It is a privilege to stand alongside patients and families in the fight against severe genetic diseases. We are committed to listening, learning and driving forward our programs as quickly and safely as possible. Patients and families inspire us every day, and we promise to do everything we can to translate what’s possible into transformative solutions.”
How we partner.
The Jaguar Patient Advocacy team serves as the primary contact between Jaguar and the patient community. We build our relationships with patients, families and patient communities on a foundation of trust and compassion. Our team is guided by the following principles:
Please reach out to us anytime at patientadvocacy@jaguargenetherapy.com.
Resources for patients.
Patient advocacy organizations are independent and trusted resources for patients and families. They can provide reliable information about genetic diseases, research opportunities, support and ways to get involved with the community.
Disorders with SHANK3 mutation or deletion.
SHANK3 haploinsufficiency leads to synaptic dysfunction, disrupting communication between nerve cells. It causes a reduction of several key receptors and signaling proteins at excitatory synapses, resulting in impaired synaptic formation and function. Adequate synapse function is an essential prerequisite of all neuronal processing, including higher cognitive functions and learning.
SHANK3 haploinsufficiency causes Phelan-McDermid syndrome (also known as 22q13.3 deletion syndrome), a rare genetic disorder with an estimated prevalence of 1 in 10,000.1,2 Genetic sequencing studies indicate that SHANK3 mutations may be present in approximately 0.5%-0.69% of patients with ASD, equating to around 46,000 patients in the U.S., including approximately 10,000 pediatric patients under the age of 18, although diagnosed cases are perceived as low by clinical experts given the barriers of access and low adoption of genetic testing in the diagnostic journey of ASD.3,4,5,6 In the subset of ASD patients who also have moderate to profound intellectual disability (ID), the prevalence of SHANK3 mutations increases from less than 1% to 2.12%.3,7
Watch the presentation given during the webinar held on July 11, 2024.
Read our latest Community Letter and FAQ about the JAG201 program.
Galactosemia.
Type 1 galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting as early as the first year of life.8,9,10 Galactosemia affects the body’s ability to make the enzyme that breaks down galactose, a simple sugar the body endogenously produces and is also found in dairy and other foods, including breast milk.8,11,12 Type 1 galactosemia is caused by mutations in the GALT gene, which lead to a severe deficiency in functional galactose-1-phosphate uridylyltransferase (GALT) enzyme which causes a toxic buildup of galactose and its metabolites including Gal-lP and galactitol. This buildup of toxic metabolites is a life-threatening medical emergency in newborns and can contribute to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.8,9,11,12 Because of its severity, galactosemia is part of newborn screening in all 50 states of the United States and in several other countries.8,9,12 No treatments are currently approved for galactosemia, and there is significant unmet medical need. The current standard of care – a galactose-restricted diet – is insufficient because the body endogenously produces galactose, causing patients to experience chronic complications.9 Jaguar is advancing JAG101, an investigational gene therapy currently in preclinical development that aims to deliver a gene replacement solution to address the root cause of Type 1 galactosemia by delivering the functional GALT gene via the AAV9 vector.
To learn more about Type 1 galactosemia, view the Understanding Type 1 Galactosemia roundtable discussion, download our information sheet and download the Galactosemia Foundation’s resource Navigating Galactosemia Life Stages: A Handbook for the Galactosemia Community.
Chronic exposure to multiple toxic metabolites can result in patients experiencing lifelong complications.
Type 1 diabetes.
Type 1 diabetes is an autoimmune disease that destroys beta cells, which are specialized cells in the pancreas that produce insulin. A lack of insulin results in the inability of cells to use glucose for energy and unregulated glucose levels in the blood, which can lead to long-term complications, including frequent hospitalizations, blindness, heart disease, stroke, kidney disease and nerve damage. No cure is available today, and treatment is based on diet, insulin injections and continuous glucose monitoring. In the United States, approximately 1.5 million individuals are living with Type 1 diabetes. Jaguar Gene Therapy is advancing JAG301, an investigational AAV-based gene therapy currently in preclinical development that works to address the root cause of the disease by producing functional beta cells using the PAX4 gene to convert alpha cells to beta cells, a process called transdifferentiation.
Our programs.
Jaguar Gene Therapy is advancing JAG101, an investigational gene therapy currently in preclinical development that aims to deliver a gene replacement solution to address the root cause of Type 1 galactosemia by delivering the functional GALT gene via the AAV9 vector. The company is also working on gene therapies with the potential to help individuals with a genetic cause of autism spectrum disorder, Phelan-McDermid syndrome and/or neurodevelopment disorders with a SHANK3 mutation or deletion, and Type 1 diabetes. Visit our Pipeline to learn more.
These programs are early in the development process. We’ll be sure to share updates and more information as development progresses.
References:
1. Costales JL et al. Neurotherapeutics 2015; 12 (3): 620–630.
2. What is Phelan-McDermid syndrome? Available at: https://pmsf.org/about-pms/. Accessed January 2023.
3. Betancur C et al. Mol Autism 2013; 4 (1): 17.
4. Jaguar Gene Therapy market research, 2022; data on file.
5. https://www.census.gov/quickfacts/fact/table/US/PST045219
6. https://www.cdc.gov/autism/data-research/index.html
7. Leblond CS et al. PLoS Genet 2014; 10 (9): e1004580.
8. Galactosemia. National Organization for Rare Disorders (NORD) Rare Disease Database. 2019. Accessed October 27, 2021. https://rarediseases.org/rare-diseases/galactosemia/
9. Berry GT. Classic galactosemia and clinical variant galactosemia. February 4, 2000. Updated March 11, 2021. Accessed October 27, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1518/
10. Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PPCA, Wodzig WKWH, Land JA. Gonadal function in male and female patients with classic galactosemia. Hum Reprod Update. 2010;16(2):177-188. https://doi.org/10.1093/humupd/dmp038
11. GALT gene. MedlinePlus. August 18, 2020. Accessed October 27, 2021. https://medlineplus.gov/genetics/gene/galt/
12. Genetic and Rare Diseases (GARD) Information Center. 2021. Accessed October 27, 2021. https://rarediseases.info.nih.gov/diseases/2424/galactosemia