Theranexus and BBDF Confirm Positive 18-Month Results for Batten-1 in Phase I/II Trial Based on Neuronal Death Biomarker Values

Lyon, France – Austin, Texas, United States – 6 June 2024 – 7:30am CT – Theranexus, a biopharmaceutical company innovating in the treatment of rare neurological diseases, and the Beyond Batten Disease Foundation (BBDF), confirm positive results in their Phase I/II trial to evaluate Batten-1 in Batten disease (CLN3) after 18 months of treatment. The results indicate a decline in serum neurofilament light chain (NfL), a biomarker of neuronal death, and confirm the therapeutic potential of the Batten-1 drug candidate in juvenile (CLN3) Batten disease.

Measurements of the concentration of neurofilament light chains (NfL), a recognized biomarker of neurodegeneration, after 18 months of treatment confirm the 12-month results presented at the International NCL2023 Congress in September 2023. This biomarker, measured in the serum of patients compliant to protocol, decreased by an average of 33% after 18 months of treatment (as a reminder, 32% after 12 months of treatment) compared to pre-treatment level.

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Batten Disease Research Priorities – YOUR HELP REQUESTED

Dear Batten community,

The BDSRA Foundation and Kennedy Krieger Institute are conducting an important community-wide survey to help inform and drive research priorities and investment in Batten disease.

Parents, carers, clinicians, researchers, industry, policymakers, allied health, support workers, educators or anyone with an interest in Batten disease are warmly invited to participate in this anonymous survey and to share with their networks. Hurry! the deadline to take the survey is this week.

Please complete the survey by May 24, 2024.

Learn more by reading this flyer, and complete the survey by clicking the button below.

Our sincerest thanks for your input into this important initiative.

Warm regards,

Mary Beth Kiser


Take the Survey

Theranexus Announces Positive Data on Efficacy and Safety in the Phase I/II Trial of Batten-1

Theranexus Announces Positive Data on Efficacy and Safety in the Phase I/II Trial of Batten-1

Stabilization of motor symptom progression in young adult patients suffering from juvenile Batten disease (CLN3) after 18 months of treatment

Lyon, France – Austin, Texas, United States – 17 April 2024 – 3pm CET – Theranexus, a biopharmaceutical company innovating in the treatment of rare neurological diseases and the Beyond Batten Disease Foundation (BBDF), today announce final positive data on efficacy and safety in the Phase I/II trial of its drug candidate Batten-1 in juvenile Batten disease (CLN3) after 18 months of treatment.

The 18-month safety and efficacy data confirm the 12-month results announced in September 2023. Batten-1 presented a good safety profile. On average, in the 6 young adult patients, treated with Batten-1, progression of motor symptoms was considerably slowed down and appeared stable compared to progression in untreated patients, as evaluated by the modified UBDRS Physical Assessment score. The mean change from baseline was +1,83 for the six subjects treated over 18 months vs +6,04 in untreated subjects from the natural history study conducted by the University of Rochester (n=46).

For Professor Gary Clark, the trial’s principal investigator and Chief of Child Neurology at Texas Children’s Hospital in Houston, “The data collected after 18 months of treatment with Batten-1 further reinforce its highly promising potential. We currently no longer observe a marked progression of motor symptoms in the 6 patients treated. These results support the prospect of a major benefit of Batten-1 for the children with this very severe disease and for their families”.

For Theranexus’ CEO, Mathieu Charvériat: “These positive results on efficacy and safety of Batten-1 are highly encouraging for the patients and their families. Together with BBDF and the investigators we are initiating an Expanded Access Program (EAP) to enable the 6 patients previously in the trial to continue receiving the treatment, considering its favorable risk-benefit profile. These results highlight the strong therapeutic potential Batten-1 on the clinical course of the disease. In this context, we are exploring different funding options to ensure we have the adequate resources to launch a phase 3 pivotal trial, which design has already received positive opinions by the FDA and the EMA”.

As a reminder, the Phase I/II trial conducted by Theranexus and BBDF to evaluate their drug candidate, Batten-1, included six patients with juvenile Batten disease (CLN3) aged 17 years and over. The patients were treated for 18 months. Following their participation in the trial, all patients are offered the possibility to continue receiving the treatment through a compassionate use program. 

About Batten-1
Batten-1 is a novel and exclusive proprietary drug containing the active ingredient miglustat. The mechanism of action of this substance blocks the accumulation of glycosphingolipids and neuroinflammation, thus significantly reducing neuronal death that contributes to a progressive loss of function in patients. For patients over 17 years of age in the Phase I/II trial, the product is administered in solid form. In the Phase III trial, it will be administered in a liquid form better suited to pediatric patients.

Phase I/II trial design: this is an open-label trial involving 6 patients over 17 years of age with CLN3 Batten disease, treated with miglustat up to 600 mg/day for an 18-month period. The primary endpoint is patient safety and tolerability, assessed using reports of adverse effects, biological tests and ECG, as well as the pharmacokinetics of miglustat. The secondary endpoints include biomarkers (NfL, glycosphingolipds), efficacy monitoring: Unified Batten Disease Rating Scale, visual acuity, measurement of brain volumes by MRI and measurement of the thickness of the neuronal layer of the retina by optical coherence tomography scans. Administration of Batten-1 in escalating doses with a maximum of 600 mg/day was well tolerated, with no severe side effects observed causing treatment discontinuation. The most commonly reported adverse events are reversible gastrointestinal effects of often light to moderate severity, thus demonstrating the good tolerability profile of Batten-1 in this population. Further information about the trial is available on

About Batten disease
Juvenile Batten disease, also known as Spielmeyer-Vogt or CLN3 disease, is a rare, fatal, inherited disorder of the nervous system for which there is no treatment or cure. Juvenile Batten disease belongs to a group of disorders referred to as neuronal ceroid lipofuscinoses (NCLs). Over 400 different errors in 13 genes have been attributed to various forms of NCL, which differ from one another primarily by when symptoms first appear. The first symptom in the juvenile form, progressive vision loss, appears between the ages of 4 and 6 and is followed by cognitive disorders, behavioral disorders, and motor disorders. Seizures commonly appear within 2-4 years of the onset of disease. Over time, patients continue to decline mentally and physically. Eventually, those affected become wheelchair-bound, are bedridden, and die prematurely.

Juvenile Batten disease is always fatal; usually by the late teens to early 20s. In the United States and Europe, the juvenile form is the most common of the NCLs, which together, affect nearly 2,000 patients[1]. In pathophysiological terms, interactions between neurons and glial cells play key roles in the emergence and progression of all the NCLs.

About Beyond Batten Disease Foundation
Beyond Batten Disease Foundation (BBDF) is the world’s largest nonprofit organization dedicated to funding research for a treatment and cure for juvenile (CLN3) Batten disease. Since its inception in 2008, over $35 million has been invested in research by leveraging donations, co-funding and strategic partnerships. BBDF is spearheading a unique, cohesive strategy, incorporating independent scientific resources and collaboration with related organizations to drive research in juvenile Batten Disease. Today there is a treatment in sight. BBDF funded research has discovered a drug – Batten-1 – that slows the progression of the disease in Batten models. More information can be found at

About Theranexus
Theranexus is an innovative biopharmaceutical company that emerged from the French Alternative Energies and Atomic Energy Commission (CEA). The company has a unique platform for the identification and characterization of advanced therapy drug candidates targeting rare neurological disorders and an initial drug candidate in clinical development for Batten disease.

Theranexus is listed on the Euronext Growth market in Paris (FR0013286259- ALTHX).

[1] National Organization for Rare Disorders (NORD)/Orphanet


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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:

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:

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.








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