Thank You Batten 4 Drew!

Thank You Batten 4 Drew!

A big thank you to Drew, Cara, Mike, and all of the Batten 4 Drew supporters who made a $10,000 donation to Beyond Batten Disease Foundation possible!

BBDF 101 Wins FDA Investigational New Drug Approval to Pursue Clinical Trials

Lyon, 7 September 2021 – Theranexus, a biopharmaceutical company innovating in the treatment of neurological diseases, and Beyond Batten Disease Foundation (BBDF), announce receipt of Investigational New Drug (IND) approval from the Food and Drug Administration (FDA) to launch a Phase I/II clinical trial of their drug candidate BBDF 101 for juvenile Batten disease, a rare, fatal, genetic disorder.

Batten disease belongs to a group of disorders referred to as neuronal ceroid lipofuscinoses (NCLs).

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West Austin News: The Boy with the Golden Heart

The Boy with the Golden Heart

Juvenile Batten disease is a rare and terminal condition that causes blindness and seizures and is mentally and physically incapacitating with an average life expectancy of late teens or early twenties.

If you never believed in fairy tales, this may change your mind. On June first, my daughter, Christiane, who suffers from Juvenile Batten disease graduated from Austin High School. Against all odds, she walked in her class processional and made her way across the stage to claim her diploma. It was a milestone we could have only dreamed of 13 years ago when we received her diagnosis. We never imagined that the happy day of her high school graduation would come and that our tears would be tears of overwhelming joy and gratitude.

When Christiane came home from school one day before graduation, she announced that she was going to the Senior Prom. She had already imagined her dress and reported that she only needed help narrowing down her choices for an escort. Christiane had always been self-determined and independently-minded, so I flashed back to her sixth-grade year on a similar afternoon when she came home from school and pulled a yellow sheet of paper from her backpack announcing that she would be trying out for cheerleader.

A thousand logistical questions raced through my mind as she confidently reeled off a Rolodex of possible escorts ranging from childhood schoolmates and family friends, to a very complete list of every accomplished and handsome boy on the Austin High football team. After careful deliberation, she landed on Beau Beathard, a handsome two-time Westlake State Champion football player, Eagle Scout, and a schoolmate she’s known since she was a child. “Wow,” I thought giggling to myself in amusement, “I better check it out with his mom.” After all, why shoot for the stars when you can land on the moon!? I decided to float the idea past his mother first, in an effort to avoid overwhelming Beau or putting him on the spot. The next day I received this text that read, “Hi, Mrs. Benson, it’s Beau Beathard. I would be honored to go to prom with Christiane! Just let me know when. So happy to do this and I can’t wait. Thank y’all!”

I will never forget her broad smile and the complete delight that illuminated her face when I told her that Beau would be taking her to the dance. Every morning after that, the first thing she asked when I woke her up, was, “Is today Prom”? Christiane spent the next month imagining the perfect dress and spent countless hours imagining her first date. She very specifically wanted a dress that didn’t touch the ground “so she wouldn’t trip while she was dancing.” Of course, she was imagining that, too!

When the day finally came, Beau came to pick up Christiane and I watched from behind as he guided her to the car. He so intuitively held her flowers so she had a free hand to use her cane, plus he seamlessly offered his arm to guide her as they made slow but eventual progress down the sidewalk to the car. There was absolutely not a single awkward moment or hesitation in initiation or leadership. With unflappable confidence, Beau spent the entire evening patiently and attentively attending to Christiane in every possible way with his fixed attention solely on her happiness. As I was a chaperone at the dance that night, I watched in tearful amazement at the incredible selflessness of The Boy with the Golden Heart. Knowing that Christiane loves to dance and sitting face to face in two chairs, Beau sweetly took Christiane’s hands and with absolutely no regard for how he may appear, he began dancing with her while she sat in her chair. After the first song, Christiane leaned over to me and while handing me her cane, she said “Hold this mom, I’m going to the dance floor!” Determinedly, she inched herself forward to the edge of her seat and while using the table for support, she pulled herself out of her chair with unprecedented enthusiasm. He held her hand over her head and in spite of her vision loss and coordinated efforts, Beau steadied her as she twirled around exactly as she imagined she would.

For the grand finale, Christiane was surprised when Beau escorted her to the stage to receive a crown and title of “Prom Royalty.”

The next day, I sent Beau a text to tell him that the evening had been the highlight of Christiane’s life, what a special person he was and that I believed God had used him in a special way inspiring many by his example. He texted back and said, “I’m just really happy Christiane got to have a fun night. Thank y’all so much for letting me go to prom with her. I’m always around if you ever need anything at all, so please do not hesitate to text me. I would be beyond proud if I inspired one boy to do the right thing!” I am sure he did. I know he inspired me and I am humbled to know an angel among us who could show us all what fairy tales are really made of.

I never saw Christiane’s smile leave her face that evening. Not once. I can confidently say it was the happiest occasion of her life and for an evening, she lived her own “happily ever after” in a beautiful story that only God could write. It was her very own fairytale that will forever be etched in her memory and The Boy with the Golden Heart will forever be etched in mine.

Written by Charlotte Benson, Christiane’s mother.

Batten Disease Research- $117 Honorarium Provided

As an organization committed to supporting Batten disease patients and their families, we are writing to bring your attention to a research study that seeks to understand the challenges faced by patients and families impacted by Batten.

Beyond Batten Disease Foundation was established to eradicate juvenile Batten disease by raising awareness and funds to accelerate research for a treatment or cure. We are collaborating with Nita Patel of Amicus Therapeutics, other Batten disease related patient organizations and Engage Health (a health research firm), on this important study. Results from this study will be submitted for publication in order that others can learn from your experiences.

We hope you will consider participating! To be eligible you must be:

  • A person diagnosed with a CLN1, CLN3 or CLN6 variant of Batten disease who is age 18 years or older OR
  • Their parent/legal guardian*
  • Diagnosis of a CLN1, CLN3 or CLN6 variant of Batten disease by provision of a proof of disease form
  • Able to read, write and communicate in English or German
  • Able to grant informed consent
  • Willing to complete a survey and RSVP, and to participate in a 50-minute telephone interview
  • Ability to view or receive a document from the interviewer before or during the interview (web browser, ability to receive a text, fax or document by mail or email)

*Please note: A parent whose child has passed on in the last 5 years is able to participate in the Survey/RSVP. Only one family member will be eligible to complete the RSVP and interview for one patient. If a family has more than one person with Batten disease, one family member may be eligible to complete the RSVP and interview for each patient.

Involvement consists of filling out a Survey/RSVP, answering a few short questions to ensure you qualify, and providing a document that shows proof of disease (a school note, copy of chart note or another document). This will take about 10 minutes. You will then be eligible to participate in a 50-minute telephone interview conducted in English. For your time, you will be paid a $117 honorarium if you complete the interview. No preparation is required to participate, but you will need to be at a computer.

If you would like to participate please:
Go to Understanding the Challenges Faced by Patients and Families Impacted by Batten Disease Through the Eyes of Patients to fill out the survey and RSVP with dates and times that you are available. Please note that times outside of standard business hours are available.
At the screen, please check the box that says “Check if you have no code” to proceed to the RSVP
If you are unable to access the RSVP and survey from the link above, please copy and paste the following URL into your browser bar to access it: https://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=72KI4m3K
Once you have completed the survey and RSVP, Engage Health will contact you to confirm the date and time of your telephone interview, or to notify you that the interviews are full, if that is the case.

If you would like to forward this invitation to other families living in the United States who are impacted by Batten disease, please do so, but remember that the interviews are being conducted on a very limited basis, and participation is first come, first served. Please respond quickly if you would like to participate!

Thank you for your interest,

Mary Beth Kiser
President and CEO

Hope on the Green 2021

For the past 12 years we have been blessed with phenomenal weather, enthusiastic golfers, and energetic volunteers. Yesterday was no exception, we gathered once again in celebration of HOPE, with our collective mission in mind… #SaveWill . Thank you to everyone who joined us at our 2021 HOPE on the Green. We look forward to sharing our recap photos online this week!

Thank you to our Photography sponsor:

Hughes & Cozad Orthodontics

Run to the Sun 2021 Thank You!

A note from Austin Youth Fitness:
“Thanks to everyone who participated in the Run to the Sun and David Phillips Memorial Mile! Together we raised $4,010 for the Beyond Batten Disease Foundation!

If you haven’t made a donation yet, there’s still time to do so here!
I am working on distributing shirts, but still need some orders for the online store in order for them to be finalized. If you registered after February 20th, you did not officially get a shirt and will need to order one here.

Congrats to our top fundraiser, Felix Statler who raised $740!!! Felix also clocked his mile time at 7:50!

We hope you keep running, keep living life to the fullest, and have a great rest of your semester and 2021! Brighter days ahead where we can all Run to the Sun together!”

BBDF Announces Agreement with Actelion Pharmaceuticals Ltd to Provide Drug Product for BBDF-101

Austin, Texas, March 2, 2021

Beyond Batten Disease Foundation (BBDF) is pleased to announce an agreement with Actelion Pharmaceuticals Ltd, a Janssen Pharmaceutical Company of Johnson & Johnson, to provide Zavesca® (miglustat) for the development of BBDF-101, a proprietary combination of miglustat and trehalose to treat juvenile Batten disease (CLN3). Janssen will provide drug supply for the clinical trials and Extended Access Program, and right of reference to data within the Zavesca New Drug Application (NDA) to support the development of BBDF-101.

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BBDF and Theranexus collaborate to publish journal

BBDF and Theranexus collaborate to publish “Evaluating and modulating TFEB in the control of autophagy: toward new treatments in CNS disorders” in the journal Fundamental & Clinical Pharmacology

Intense scrutiny of patient cells and animal models of CLN3 disease over the past 3 decades demonstrates that the loss of CLN3 protein impacts multiple cellular functions. The majority of dysfunction is in cellular compartments responsible for cellular recycling and waste management. This review, co-authored by Beyond Batten Disease Foundation and Theranexus, describes how drug-mediated activation of transcription factor EB (TFEB) clears toxic waste from Batten and other neurodegenerative disease models and describes ongoing pharmaceutical plans to use TFEB activators to treat these diseases.

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Manuscript accepted by the journal

NEUROPHARMA: Evaluating and modulating TFEB in the control of autophagy: towards new treatments in CNS disorders

Manuscript by da Costa, Anaelle; Metais, Thibaud; Mouthon, Franck; Kerkovich, Danielle; Charvériat, Mathieu, was successfully accepted by the journal “Fundamental & Clinical Pharmacology.”

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