Rare Neurodevelopmental Disorders
Characterized by genetic mutations affecting critical neurodevelopmental pathways, rare neurodevelopmental disorders often lead to cognitive and behavioral deficits. Protheragen boasts a talented team of researchers and scientists with extensive expertise in rare neurodevelopmental disorders. They are deeply committed to pioneering the development of cutting-edge therapies, aiming to address unmet therapeutic needs and advance targeted therapeutics in the field.
Introduction to Rare Neurodevelopmental Disorders
Rare neurodevelopmental disorders represent a heterogeneous group of conditions characterized by impairments in cognition, communication, behavior, and motor function, often arising from genetic or epigenetic anomalies. These disorders, though individually uncommon, collectively affect millions worldwide, presenting significant challenges in diagnosis and therapeutic intervention. Examples include Rett syndrome, Angelman syndrome, fragile X syndrome, and CDKL5 deficiency disorder.
Fig.1 Five pathways are associated with early onset neurodevelopmental disorders. (Bourgeron T., 2016)Pathogenesis of Rare Neurodevelopmental Disorders
Rare neurodevelopmental disorders arise predominantly from genetic mutations that disrupt crucial neurodevelopmental pathways, resulting in synaptic irregularities, imbalanced neurotransmission, and compromised neuronal connections. Critical mechanisms involve the inactivation of genes like MECP2, UBE3A, and FMR1, which hinder synaptic flexibility, protein equilibrium, and epigenetic control. Moreover, irregular excitatory-inhibitory signaling, abnormalities in dendritic spine structure, and epigenetic imbalances further contribute to cognitive and behavioral impairments.
Fig.2 Utilization of different model systems and approaches in neurodevelopmental research. (Damianidou E, et al., 2022)
Therapeutic Development for Rare Neurodevelopmental Disorders
| Drug Name | Indications | Mechanism of Action | NCT Number | Research Phase |
| ION582 | Angelman Syndrome | Antisense oligonucleotide targeting UBE3A-AS to reactivate paternal UBE3A expression | NCT06914609 | Phase III |
| NNZ-2591 | Angelman Syndrome | Synthetic cyclic glycine-proline analog modulating IGF-1 signaling and synaptic plasticity | NCT05011851 | Phase II |
| Ganaxolone | CDKL5 Deficiency Disorder | Allosteric modulator of GABAA receptors to restore inhibitory tone | NCT03572933 | Phase III |
| SPG601 | Fragile X Syndrome (FXS) | Recombinant protein restoring FMRP-mediated translation regulation | NCT06413537 | Phase II |
| Gaboxadol | Fragile X Syndrome (FXS) | Selective extrasynaptic GABAA agonist (δ-subunit) enhancing tonic inhibition | NCT06334419 | Phase I |
| Cannabidiol | Rett Syndrome (RTT) | Modulates endocannabinoid system; potential effects on excitatory/inhibitory balance | NCT04252586 | Phase II/III |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
To advance the effective management of rare neurodevelopmental disorders, Protheragen offers comprehensive diagnostic and therapeutic development services, leveraging our extensive expertise and cutting-edge technologies. With a focus on the diverse molecular mechanisms driving rare neurodevelopmental disorders, we are dedicated to developing innovative and targeted therapies that address the significant unmet medical needs. Our team excels in creating highly accurate disease models, enabling rigorous evaluation of the safety, efficacy, and mechanism of action of potential therapeutics.
Types of Rare Neurodevelopmental Disorders
| A-N | |
| Aicardi Syndrome Angelman Syndrome (AS) Asphyxia Neonatorum Canavan Disease CDKL5 Deficiency Disorder Cerebral Palsy Charge Syndrome |
Coffin-Lowry Syndrome Creatine Deficiency Disorders Cri-Du-Chat Syndrome Down Syndrome FDXR-Related Neurodevelopmental Disorder Floating-Harbor Syndrome Fragile X Syndrome (FXS) |
| O-Z | |
| Joubert Syndrome Kabuki Syndrome Kleefstra Syndrome Molybdenum Cofactor Deficiency (MOCOD) Mowat-Wilson Syndrome Noonan Syndrome (NS) Phelan-Mcdermid Syndrome Pitt-Hopkins Syndrome (PTHS) |
Pitt-Rogers-Danks Syndrome Prader-Willi Syndrome Rett Syndrome (RTT) Rubinstein-Taybi Syndrome (RSTS) Smith-Magenis Syndrome Williams Syndrome Wilson-Turner Syndrome |
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
Protheragen leverages its advanced blood-brain barrier (BBB) models to accelerate the development of CNS-targeting therapies for rare neurodevelopmental disorders. Our company is steadfastly dedicated to meticulously validating and optimizing therapies for rare neurodevelopmental disorders through a thorough series of pharmacodynamics (PD), pharmacokinetics (PK) and toxicology studies. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Bourgeron T. The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture[J]. Nordic Journal of Psychiatry, 2016, 70(1): 1-9.
- Damianidou E, Mouratidou L, Kyrousi C. Research models of neurodevelopmental disorders: The right model in the right place[J]. Frontiers in Neuroscience, 2022, 16: 1031075.