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Dear Families,

At 4pm CST (10pm GMT) on 15th November 2023, Beyond Batten Disease Foundation held their quarterly Family Research Call. This was led by Mary Beth Kiser (CEO), Dr Ineka Whiteman (Scientific Consultant) and Craig Benson (Chair of the Board of Directors).

The meeting started with an overview of data from the laboratory investigation of Miglustat in CLN3 patient derived fibroblasts induced into neurons. These are cells that have been taken from patients with the 1kb mutation and in the lab have been reprogrammed to be neuron cells. When Miglustat is added to these cells there is a decrease in storage material in the lysosomes and it restores physiological levels of glycosphingolipids (which accumulate in CLN3 Batten disease) and autophagy (the body’s cellular recycling system). In a mouse model of CLN3, neuroinflammation is seen in the brain and is associated with apoptosis, a form of cell death. Treating these mice with Miglustat resulted in a decrease in inflammatory mediators. These data were the basis for the Phase I/II clinical trial.

Miglustat is used in the treatment of Gaucher and Niemnann Pick disease type C (NPC) and is licensed for all ages in Europe for the treatment of NPC, but not by the FDA in the USA. Therefore, an initial Phase I/II trial was started in March 2021 with 7 patients aged 17+ years to assess safety in children. Data from this study showed no unexpected issues with safety and, while not statistically significant because of the small number, results showed less cell death and no worsening of motor scores. The next step is a Phase III trial to test efficacy in a paediatric cohort.

The Phase III trial must have a primary endpoint which is measurable which has been set by the FDA to be vision evaluated through a visual acuity test. It is accepted that vision loss occurs so, although this is a primary endpoint, it is not an exclusion criteria. Secondary endpoints will include motor scores, blood test results, cognitive assessments, and OTC.    

Enrolled patients will have an initial visit and then a 9-week titration period to build up to the correct dose followed by monitoring over 2 years with 6 monthly visits to the trial centre. For this phase, Miglustat has been developed into a liquid formulation called Batten-1. This is to allow easy administration (at home), easy titration of the dose and tube feeding where necessary. A bio-equivalency study with 40 healthy volunteers have shown no gastrointestinal issues.

The key information for the trial:

  1. 60 – 70 patients
  2. Three arms
    1. 4 – 8 years
    2. 9 – 12 years  
    3. 13 – 16 years
  3. 1:1 ratio placebo required by FDA (30-35 patients to receive placebo)
  4. Placebo vs Batten-1 will be randomised and double-blinded (no one will know who’s on what)
  5. Multiple sites being used to start trial worldwide within a narrow timeframe (6 – 9 months) to expediate generation of results
  6. GOSH is the UK site
  7. 24-month study time
  8. 6 monthly tests expected to take 2-3 days
  9. Out of pocket costs will be covered
  10. Open label extension of 9 patients running in parallel, matched to natural history study data and not blinded
  11. Enrolment to the extension cannot be requested, patients will be matched carefully to available data 
  12. A signal in any arm will result in all participants receiving Batten-1 (cross over study)

Beyond Batten are hoping that enrolment will start in March 2024, but this is dependent on the contracts for all the sites being in place. Once these contracts are complete, the call will go out. We don’t know how the call will go out yet, or how many places there will be per arm of the study, but we will let you know as soon as we find out.

There were many questions asked, some answers have been included in this report, but others were only relevant to the USA parents. If you have any further questions, please contact Jo (

Dr Joanna Nightingale

Head of Scientific Affairs

Batten Disease Family Association (BDFA)

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