CdLS Foundation (USA) Position Statement on Research

The Cornelia de Lange Syndrome (CdLS) Foundation has been hard at work for 40 years to advance awareness of CdLS and share medically supported information and expertise.

As the only organization in the United States dedicated to CdLS and considered by many as the world leader in CdLS research and support, we’d like to highlight some key points to consider when discussing and learning more about CdLS.

• The incidence of CdLS is thought to be approximately 1 in 10,000 live births. It is estimated that approximately 33,000 people in the U.S. have CdLS. However, many remain undiagnosed and/or without support services.
• CdLS is not a degenerative disease. It is a spectrum disorder with a wide range of potential physical, cognitive and medical challenges. Patients can be mildly affected with minor abnormalities to severely affected with cognitive, behavior and physical limitations.
• There is no cure for CdLS. However, medical research and development of greater scientific advances are underway [across the globe] that can help those living with the disorder achieve a higher quality of life. Early diagnosis and intervention are essential to ensure proper management of related medical issues. This is a key reason awareness is so critical.
• Many individuals with CdLS can achieve an independent lifestyle through adaptive behaviors, skills training and proper support resources.
• Gene therapy is a recent medical advancement. There are many hurdles to overcome to make gene therapy a reality for CdLS patients. To name just a few for example: which method to deliver corrective genes safely (chemical, electrical or viral); what cells in the body to deliver the gene to; and what is the correct number of cells to inject or deliver? Then, if a therapy could be developed – it would need to be tested for efficacy and safety in clinical trials before applying for FDA approval. These are just a few of the areas where focused basic scientific research could help us overcome some barriers to
  genetic treatments. But of course, we will never know without trying.

Following a recent uptick in media coverage and awareness campaigns focused on gene therapy for CdLS, The CdLS Foundation is pleased to announce a new collaboration with The Jackson Laboratory to coordinate research efforts for all genes implicated in CdLS.

JAX is a highly respected institution known for creating mouse models for their own research and making them freely available to scientists at academic institutions and basic science researchers. Where possible, they are using their funded infrastructure to investigate causes, identify therapeutics, and advance the knowledge available to families impacted by rare disease.

The goals of the research taking place at JAX related to CdLS are:

• To advance basic science around CdLS by taking advantage of the latest tools that allow us to look at gene therapy differently.
• Create a centralized repository of existing and new mouse models with features of CdLS, with the goal to make these models accessible to the entire biomedical research community
• Assist in testing various treatment options (including but not limited to gene therapy) to see if symptoms can be alleviated. This would include checking for clinical improvement and percentage of improvement with various therapies.
• Testing for timing of clinical intervention in the outcome of symptom improvement.
• Partner with a wide range of researchers and clinicians to strengthen the overall CDLS efforts

JAX have said of the current research underway:

JAX has agreed to attend our scientific symposium next year and work with the research team in the coming months to talk through a potential research agenda. Future possibilities in working with JAX include creating mouse models for all CdLS genes and other genetic syndromes related to transcription control. We are grateful for this new development.

The CdLS Foundation currently serves more than 3,600 families, and that number continues to grow. The Foundation’s awareness efforts, including continued public dialogue and medical research, are helping drive positive change in the lives of those affected and the families who offer support and care.

We are grateful for the efforts of all families and supporters who raise awareness and funding to support research, services and the crucial programs which the Foundation offers free of charge.

Bonnie Royster

To speak to a member of our team, please contact: Gabrielle Nadeau at Outreach@cdlsusa.org

Source:

Mailed to the CdLSWorld federation by CdLS USA Foundation, published on 1 sept. 2021

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