Affected Families: We need your help!

Dear Families,
Over the last 9 years, Beyond Batten Disease Foundation (BBDF) has funded research for a treatment or cure for juvenile Batten (CLN3) disease. That research has led to a medical discovery: a treatment that slows the progression of the disease in Batten models.
We are now laser-focused on gaining approval from the US FDA to conduct a clinical trial to treat children with CLN3 disease. If successful, the regulatory pathway we have chosen will lead to approval of the new medicine for all patients, wide distribution, make the drug eligible for insurance coverage, and open the door for treatment of other forms of Batten and lysosomal storage diseases.
We need your help! Anecdotal information from the patient community about their experiences can be very helpful in supporting our case if included as part of our submission package to the FDA. Please take 2 minutes to fill out this short survey to provide important information about your personal experiences, if any, with Trehalose and/or Miglustat.
The survey is confidential and will be anonymous unless you choose to share your contact information. Participating in the survey will in no way affect eligibility for this or any other trial.
Please let us know if you have questions or would like additional information.
With gratitude for all you do for your own family and the broader Batten community. We are grateful for your partnership in this effort.
Look forward to hearing from you!
Mary Beth Kiser
President and CEO


Giving Tuesday Thanks


We are so grateful to all the Batten families and supporters who created fundraisers on our Facebook page or made donations on #GivingTuesday! We made close to $15,000 and anticipate receiving matching of up to $1000 for each fundraiser thanks to Facebook and the Bill & Melinda Gates Foundation! Facebook fundraisers are an easy way to support BBDF’s research efforts and to help fund the treatment that is now in sight for juvenile Batten disease! You can create a fundraiser at any time and for any reason — maybe in honor of your birthday or another holiday, or simply just because! Just go to our Facebook page and click on “fundraisers” on the left side of the page. It will walk you through the steps. It’s very easy! Thanks again to all who made this #GivingTuesday so successful for Beyond Batten Disease Foundation!

Inspiring Family Takes on Philadephia Marathon

Seven-year-old Garrett was diagnosed with Batten disease at the age of four. In dealing with his blindness and inability to walk independently, his family found the importance of wellness of both body and mind. They have also come into contact with many other families who face similar challenges and would love to exercise and enjoy the outdoors with their loved ones. Through this, Garrett the Grand Wellness has evolved. Read the full press release on their attendance at the marathon here.

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Sharon Terry at TedMed 2016

Sharon Terry is a mother of 2 children who have a rare disease known as pseudoxanthoma elasticum (PXE). Watch her inspirational speech where she discusses how she and her husband worked to establish mandates that require researchers to share biological samples and work together. Beyond Batten Disease Foundation has followed that model since its inception.

mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases

BBDF is very proud of the research we have funded over the last 8 years.  We are especially honored to have worked with Drs. Marco Sardiello, Michela  Palmieri and their colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital.  These researchers are devoted to helping patients with Batten disease and are vital partners in our efforts.  We are delighted that their work was published in Nature Communications this week.  Nature Communications is ranked in the top .04% of 28,000 subject journals. Read  the article:

The paper is important to the understanding of how healthy cells manage waste disposal, but also because it proves an important concept for treating juvenile Batten disease in mouse models, propelling us forward down the drug discovery pipeline.  Today, BBDF is building on this discovery by working on industrial validation and dosing studies with Evotec, a drug discovery alliance and partnership company, to quickly advance Dr. Sardiello’s findings through the regulatory process, and ultimately to clinical trials.

Dr. Sardiello and his team have made a significant discovery and taken a giant step toward our collective goal to treat Batten disease.  We are grateful to him and his team for their dedication and perseverance.  In response to congratulatory emails, Marco had this message for BBDF donors, “We are proud to be working with you! This could only happen because of your continuous support.  More news coming in the next few months… stay tuned!”

To read more:

Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital press release:

Baylor’s press release: