Wall Street Journal Article by Judy Stecker

Pediatric rare disease drug development relies on the commitment, motivation, and tenacity of the parents. BBDF is grateful for our partnership with rare disease families who are advocating for treatments for Batten disease. Congratulations to Batten mom, Judy Stecker, co-founder of Wheeler’s Warriors at BBDF, for articulating some of the challenges faced by rare diseases.

 

The FDA Could Help Save My Son From a Rare Disease

My eldest son, Wheeler, has a rare genetic disease that will steal his vision, mobility, memory and, ultimately, his life. Every morning when he leaves for preschool, I worry it may be the last time he’ll be able to see my face. 

One in 10 Americans have rare diseases— defined as affecting fewer than 200,000 people in the U.S.—and 95% of these afflictions lack a Food and Drug Administration-approved treatment or therapy. Three in 10 children affected by rare diseases won’t live to see their fifth birthday. Wheeler turns 5 in May. 

When my son was diagnosed with CLN3 juvenile Batten disease at 4 weeks old, research into possible therapies offered hope. That hope is all but gone. The Beyond Batten Disease Foundation’s planned 2023 Phase III clinical trial of a potential treatment is in limbo, seeking funding. (My family supports the foundation.) Earlier this month, Amicus Therapeutics abandoned its pursuit of the only proposed gene therapy. 

These developments are devastating but unsurprising. Given this, the anti-innovation sentiment in Washington and unnecessary bureaucracy at the FDA have made it difficult for companies to justify investments in rare-disease therapies. 

 

Read the Full Article

 

Amicus Discontinuing Their CLN6 program

Like many in our Batten community, we are disappointed to hear that Amicus have chosen to discontinue their CLN6 program and now their CLN3 gene therapy programs. We are encouraged, however, to learn that Nationwide Children’s Hospital has expressed its commitment to continue moving both of these programs forward. We look forward to seeing the ongoing development of the programs, and plan to follow up with Nationwide to understand their plans for the CLN3 program and how BBDF might collaborate.

In the meantime, we continue working very hard to advance our Batten-1 study to Phase III enrollment and look forward to sharing another update on this with our community soon.

National Institutes of Health Seek Individuals to Participate in a Research Study

Researchers at the National Institutes of Health (NIH), in Bethesda, Maryland, seek individuals with CLN3 (Juvenile Neuronal Ceroid Lipofuscinosis, Batten disease) and their family members to participate in a research study. CLN3 is a neurodegenerative disease, with typical onset seen in children. Individuals with CLN3 may have symptoms such as visual impairment/blindness, seizures, personality and behavioral changes, dementia and loss of motor skills. The main purpose of this research study is to identify markers of disease to better detect, monitor, and understand CLN3.

As part of the ongoing CLN3 natural history study, participants will be recruited to the DBS study with the aim of identifying biomarkers that can aid in CLN3 screening and diagnosis at birth. The researchers believe that an early diagnosis of CLN3, prior to the onset of symptoms, will facilitate early intervention and treatment when available.

The study is noninvasive and is considered minimal risk, eliminating the need for an in-person visit to the NIH. Participants will be consented online or in person to obtain permission to request the newborn spot card collected at birth from the state. Recruitment is set to begin in the highlighted states of California, Maryland, and New York.

Efforts are underway to secure approvals from other states, allowing for the expansion of recruitment to additional regions. The researchers welcome assistance in sharing information about this new study with families and other CLN3 community organizations and contacts.

Please refer to this flyer for more details and contact information

Highly Promising 12-month results in the Phase I/II trial of Batten-1

Lyon, France – Austin, Texas, United States – 29 September 2023 – 7.30am – CET – Theranexus, a biopharmaceutical company innovating in the treatment of rare neurological diseases, and the Beyond Batten Disease Foundation (BBDF), present very encouraging interim results for efficacy and safety after 12 months of treatment in their Phase I/II trial for Batten disease (CLN3) at NCL2023, the International Congress on Neuronal Ceroid Lipofuscinoses held in Hamburg (Germany) from 26 to 30 September 2023.

For Professor Gary Clark, the trial’s principal investigator and Chief of Child Neurology at Texas Children’s Hospital in Houston, “The Phase I/II results for Batten-1 are highly promising, as we have observed a reduction in neurofilaments and glycosphingolipids and no notable progression of motor symptoms after 12 months of treatment in our 6 patients aged 17 years and over. This is unprecedented in the indication, and Batten-1 is thus a source of great hope for children affected by the disease and for their families”. Professor Clark will be presenting the 12-month interim efficacy and safety results at the “Translational Research Clinical” session on Friday 29 September at 12.25pm (CEST).

The 12-month treatment results further support the 6-month results announced in mid-June 2023. The new results, achieved after 12 months of treatment, show an average 32% decline in neurofilament light chain (NfL) levels in patient serum (as a reminder, 17% after 6 months’ treatment). Neurofilaments are a recognized biomarker of neurodegeneration. A 64% reduction in this biomarker is also observed in the cerebrospinal fluid (CSF). After twelve months of treatment, in line with preclinical data the results also confirmed a reduction in the glycosphingolipids involved in the disease (Gb3 reduction of 45%) which, when they accumulate, are toxic to neurons. Clinically, there was notably less worsening of motor symptoms evaluated by the modified UBDRS physical assessment subscale after 12 months than what is expected in this naturally progressive disease.

For Theranexus’ CEO, Mathieu Charvériat: “We are delighted with these 12-month results which confirm and complement our initial 6-month results. The decrease of biomarker levels confirms the effect of Batten-1 on neuronal death, and the clinical course did not worsen. These consistent results represent a significant endorsement of the mechanism of action and demonstrate the strong therapeutic potential of Batten-1 in Batten disease (CLN3)”.

As a reminder, the Phase I/II trial conducted by Theranexus and BBDF to evaluate their drug candidate, Batten-1, includes six patients with Batten disease (CLN3) aged 17 years and over. The patients are being treated over a 24-month period.

The presentation of the 12-month efficacy and safety results will be available online on 29 September after market closing.

For further information about NCL2023: https://ncl2023.de/

Read the full press release here.

Rare Sibling Stories Looking for Stories!

Rare Sibling Stories is looking for siblings to highlight on their platforms! They would love to feature siblings of individuals with Batten disease. Siblings (any age) just need to fill out a short survey with this link: https://forms.gle/SbogDffzfphoAFjj7

They created Rare Sibling Stories to provide a space for siblings of individuals with rare diseases to share their stories and connect with others like themselves. Rare Sibling Stories is gathering information from siblings to highlight on the Rare Sibling Stories website and social media!

NORD’s Batten Disease Patient Assistance Program

Having a rare disease is difficult. Adding in the complex care required to treat or manage that disease and figuring out how to pay for it makes a rare diagnosis even harder. NORD’s Batten Disease Patient Assistance Program offers eligible individuals diagnosed with Batten Disease financial support to pay for out-of-pocket healthcare costs that are directly related to the care and treatment of Batten. These Patient Assistance Programs for individuals diagnosed with Batten disease have been expanded. Eligible individuals may now apply for financial support with health insurance premiums and copay expenses as well as Emergency Relief (critical, non-medical needs). Eva’s Butterfly Wishes for rare children may also be available. Learn more below.

 

PREMIUM & COPAY PROGRAM

 

EVA’S BUTTERFLY WISHES® FOR RARE CHILDREN

 

EMERGENCY RELIEF PROGRAM

 

BBDF Grants $60,000 Over 3-Years to Support Ineka Whiteman, Ph.D., Head of Research and Medical Affairs

BBDF grants $60,000 over 3-years to the BDSRA Foundation to support Ineka Whiteman, Ph.D. to serve as the Head of Research and Medical Affairs. With this support, Dr. Whiteman is able to focus on Batten research full-time. In addition, Ineka serves as a scientific consultant to BBDF and the Head of Research and Medical Affairs for BDSRA Australia. Her leadership brings a more cohesive approach and fosters greater partnership and collaboration across all CLN3 initiatives. Click here to read her bio.

Encouraging preliminary 6-month results in the Phase I/II trial of Batten-1 in Batten disease (CLN3)

Lyon, France – Austin, Texas, United States – 14 June 2023 – 7.30am CEST – Theranexus, a biopharmaceutical company innovating in the treatment of rare neurological diseases, and the Beyond Batten Disease Foundation (BBDF), have today announced encouraging preliminary results achieved with their drug candidate, Batten-1, in juvenile Batten disease as part of the Phase I/II ongoing trial after 6 months of treatment. These preliminary results suggest an effect of Batten-1 on neuronal death and initial signs of clinical efficacy.

Theranexus and BBDF are conducting a Phase I/II trial of their drug candidate in six patients with Batten disease (CLN3) aged 17 years and over who are due to receive treatment over a 24-month period. The first results of this Phase I/II trial after 9 weeks of treatment showed a good tolerability and pharmacokinetic profile for Batten-1. The new preliminary results, achieved after 6 months of treatment, show an average 17% decline in neurofilament light chain (NfL) levels in the blood of dosed patients. Neurofilaments are a recognized biomarker of neurodegeneration. Moreover, motor symptoms assessed by the modified physical subscale of the disease- specific UBDRS did not progress over the same period (mean score of 31.8 after 6 months of treatment as against 32.4 at baseline), whereas according to data available describing the natural course of the disease, this clinical score should have progressedby around one point in these patients. Lastly, the drug candidate continues to show a good tolerability profile after six months of treatment.

Read the full press release here.

Expert Insights on Gene Therapy for International Batten Awareness Day

Neuronal ceroid lipofuscinosis (NCL) is a group of 13 rare inherited lysosomal disorders affecting the nervous system which are collectively referred to as Batten disease.1 According to the Batten Disease Support and Research Association (BDSRA), Batten disease is estimated to occur in approximately 2 to 4 in 100,000 births in the United States; however, the BDSRA indicates that the actual occurrence may be even higher.

Several companies are currently developing gene therapies intended to treat specific forms of Batten disease. Among these are REGENXBIO, which is developing RGX-181 and RGX-381 for the CLN2 subtype; Lexeo Therapeutics, which is developing LX1004 for the CLN2 subtype; and Taysha Gene Therapies, which is developing TSHA-118 for the CLN1 subtype.2-4 RGX-381 is specifically intended to address the ocular manifestations of CLN2; as of March 30, 2023, a phase 1/2 clinical trial (NCT05791864) for the therapy is active, but not yet recruiting. RGX-181 remains in preclinical development. According to Lexeo and Taysha’s respective pipeline overviews, LX1004 and TSHA-118 have entered clinical development.

Read the full article here.

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