Further to this topic…
Make no mistake, Neuren’s choice of rare disease indications for its Phase 2 trials of NNZ-2591 is strategic.
While early preclinical testing of NNZ-2591 was done extensively in models of Fragile-X, TBI, stroke, Parkinson’s, peripheral neuropathy and multiple sclerosis, Neuren has opted instead to advance NNZ-2591 in four neurodevelopmental rare diseases.
While these four disorders are caused by different gene mutations, they are all closely linked to autism spectrum disorder and share multiple symptoms/behaviours.
Patents for the use of NNZ-2591 in treating autism have been approved in the major markets of the United States (exp. 2034), Europe and Japan.
Pitt Hopkins syndrome is considered an Autism Spectrum Disorder, and some individuals with Pitt Hopkins syndrome have been diagnosed with Autism, with ‘atypical’ autistic characteristics, and/or Sensory Integration Dysfunction. Because of its genetic relationship to autism and other disorders, many researchers believe that curing Pitt Hopkins syndrome will lead to cures for similar disorders.
https://pitthopkins.org/about-pitt-hopkins/
Phelan–McDermid syndrome (PMS) is a rare genetic disorder presenting with developmental delay, epilepsy, and autism spectrum disorder (ASD).
https://www.nature.com/articles/s41390-021-01806-x
Angelman syndrome has a high comorbidity with autism and shares a common genetic basis with some forms of autism. The current view states that Angelman syndrome is considered a ‘syndromic’ form of autism spectrum disorder19
https://www.spectrumnews.org/wiki/a...rome has a high,of autism spectrum disorder19.
Prader-Willi Syndrome is a disorder which is sometimes associated with, but not a subtype of, autism….
Some of the behaviors which are common to both Prader-Willi Syndrome and autism are:
delays in language and motor development
learning disabilities
feeding problems in infancy
sleep disturbances, skin picking
temper tantrums
high pain threshold
https://www.autism.org/related-disorders/
A more recent Chinese study suggests that prevalence of autism in Prader-Willi Syndrome is much higher than previously thought.
Among the 218 Chinese PWS participants enrolled in this study, we found that 78% of subjects younger than 3 years old were identified as high risk for ASD via ASQ-3, while 84% of subjects aged 3 years or older were identified as high risk for ASD via GARS-3.
https://www.frontiersin.org/articles/10.3389/fpsyt.2020.594934/full
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