1. What is the CureDuchenne organization?
Founded in 2003 by the parents of a child with Duchenne, CureDuchenne is recognized as a global leader in research, patient care and innovation for improving and extending the lives of individuals with Duchenne muscular dystrophy (DMD). Early on, CureDuchenne adopted a venture philanthropy model that enabled the organization to not only dedicate seed funding to promising early clinical projects, but to also contribute scientific expertise to help companies understand how to develop targetable drugs. The organization also acts as a liaison between the physician community and drug companies.
Although CureDuchenne started out as a research funding entity, it has evolved over the years to help meet the needs of the Duchenne community. In doing so, CureDuchenne has brought in the most talented professionals possible to fill leadership roles, reaching outside typical nonprofits to hire experts in their various fields. This has enabled CureDuchenne to build a world-class team that fuels hope for families, educates the community on best care, connects the Duchenne community and enables progress for drug development in collaboration with pharmaceutical companies, medical and healthcare professionals.
Additionally, the organization is a leading authority in physical therapy for DMD, and it takes great pride in having founded the CureDuchenne Certified Physical Therapy Program. This unique program trains physical therapists online and in-person on the special needs of Duchenne patients, in addition to sending teams out across the country to educate physical therapists in communities where children living with Duchenne receive treatment.
2. What does DMD do to the body and what are the symptoms patients typically face? What is their long-term outlook?
Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness. Duchenne is the most common and severe form primarily impacting males. In rare cases, the disease can also affect females who will be symptomatic as well. Females can also be carriers of Duchenne, passing it along to their sons, so the condition has ramifications for the entire family.
Duchenne is caused by a mutation on the dystrophin gene, which is responsible for producing the key muscle protein, dystrophin. Without dystrophin in the cell membrane, muscle cells easily become damaged, triggering an inflammatory response from the immune system. This creates fibrosis in the muscles, causing contracture and stiffness. The disease affects the peripheral muscles first. Patients lose the ability to walk and may require a wheelchair by age 12. As the disease progresses, arm strength is lost, and patients may lose the ability to self-feed and independently roll over in bed. Eventually the diaphragm muscles weaken, causing breathing difficulties which may require ventilation. At present, there is no cure, and ultimately most patients succumb before their late-20’s due to cardiac failure caused by a lack of dystrophin in the heart muscle.
The long-term outlook for individuals living with Duchenne has improved. New gene-based therapies have recently emerged with noted advances in conventional gene replacement strategies, RNA-based technology, and pharmacological approaches. Results are encouraging and hold promise for the treatment of dystrophic muscles. Meantime, the organization has pushed hard to educate the families and healthcare providers to incorporate effective, clinical based treatments.
3. What are some of the biggest challenges DMD patients and their families face?
In addition to the many physical challenges Duchenne patients face as the disease progresses, a myriad of other issues may arise. It is difficult for patients to watch friends grow and excel while they are declining, so there are often emotional outbursts. The isolation these children experience can also be heartbreaking, as they cannot participate in the typical social activities other children their age experience. Additionally, many patients have other conditions, such as OCD, autism, and ADHD, adding another layer of complexity.
Parents and families experience an emotional roller coaster through the progression of Duchenne. Each decline in function may trigger an emotional response for the children and their family members. Separation within families is common, and the incidence of divorce is high.
Financially, providing for a patient with DMD is a huge burden, and financial challenges are very common. Many items the patient needs to experience the best quality of life are not covered by insurance, and the costs can be astronomical. Additionally, family members who are caregivers often have to make major career sacrifices to ensure the patient’s needs are met.
4. What resources does CureDuchenne offer patients?
CureDuchenne takes great pride in offering a wealth of useful support services. Several staff members have children with DMD and provide guidance based on their own personal experiences, including helping families make critical connections with resources. Their team of researchers is available to counsel families on the specific genetic mutation of their child and help guide a better understanding of the clinical trial and treatment landscape. Physical therapists who can talk to families are on staff, as well as other therapists who offer techniques and training in the care and management of needs for Duchenne patients.
The organization is strongly committed to finding a cure. In 2019, CureDuchenne initiated a patient biobank that has since developed into CureDuchenne Link, a centralized data hub that connects information provided by the Duchenne and Becker community directly to researchers. More than just a registry or a biobank, this platform facilitates data sharing, which is critical to advancing our understanding of these diseases and accelerating research towards a cure.
CureDuchenne has also taken the initiative to improve the quality of life of Duchenne patients and their families by creating CureDuchenne Cares, an interactive education and outreach program that provides the community with information, resources, and best practices for managing the challenges of Duchenne to improve overall quality of life. Community events and other gatherings connect Duchenne families who are on a similar journey, while webinars provide excellent educational opportunities by featuring experts and specialists in the Duchenne community. While these events are virtual due to COVID-19, many will eventually return to in person. Thanks to this program, patients and their families gain skills in learning to live in the moment, providing hope and joy where there once was none. The organization has many resources to help families improve their outlook, helping them embrace the potential the child has while empowering them to live in the moment.
A special event held each year is the national conference, a two-day gathering that brings education, resources and connection to the Duchenne community in a family-friendly environment. Details on the CureDuchenne 2021 FUTURES Virtual National Conference are available on the organization’s website, along with information on many other helpful resources.
5. What outreach activities does CureDuchenne use to connect with DMD families and other stakeholders?
The organization has a presence on social media channels, including Facebook, Instagram, Twitter, LinkedIn, and YouTube. Two special interest closed groups are also available on Facebook, including one for physical therapists. The organization also supports the DuchenneXchange, a secure online dedicated platform of collaborative resources where individuals, families, providers, researchers and treatment innovators come together to engage and learn.
Families and stakeholders can also connect at the annual CureDuchenne FUTURES national conference. This important gathering brings together scientists, drug developers, equipment manufacturers and many other interested parties, enabling the sharing of ideas and networking.
6. What volunteer opportunities are available with CureDuchenne? How can people support the organization?
People can support CureDuchenne by creating awareness on social media, sharing posts and connecting the organization with resources for patients or foundations that support childhood rare diseases or cutting-edge medical research.
Many families want to participate in fundraising, as taking action is a form of therapy that helps them be part of the solution. The organization’s development team provides fundraising kits and works with families to help them engage their network in their local community. Even events that raise a small amount of money can have an impact on the disease, and some have turned into large affairs that have raised millions of dollars. Readers can help accelerate science for the next generation of therapies by clicking here.
Volunteer opportunities are always available at the annual conference, and currently the organization is recruiting volunteer physical therapy students in various cities to expand the physical therapy program. Volunteers can also participate in CureDuchenne’s wine tasting events in Newport Beach, Philadelphia, Houston, Boston, Miami, Dallas, and Orlando.
7. Where can patients and families get the most up-to-date information on new advances in DMD?
Significant advances and news relevant to our funding successes and community support initiatives are available on the website. Webinars on new developments are common occurrences. For breaking news and up-to-date information available in real time can be found on the DuchenneXchange.
8. What closing thoughts should readers remember?
While CureDuchenne stresses living in the moment and being hopeful about the future, there is a sense of urgency, as patients and families still face the reality that this is a progressively fatal disease. CureDuchenne is committed to finding a cure. Support from funders within the Duchenne community and the general public can help this dream become a reality a lot sooner.