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Pitt-Hopkins Syndrome (PTHS)

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder that causes developmental, intellectual and physical changes in children. Equipped with cutting-edge technology platforms and a team of highly skilled research professionals, our company provides customized solutions and comprehensive support for the development of diagnostics and therapies specifically designed to target PTHS. Our company is dedicated to expediting your research endeavors by providing state-of-the-art tools and leveraging our expertise in the field.

Introduction to PTHS

PTHS is a rare genetic disorder that affects the development of the brain and nervous system. It is typically characterized by developmental delay, intellectual disability, and changes in facial structure. The incidence rate of PTHS is 1/225,000 to 1/300,000, and there are approximately 500 confirmed cases worldwide.

Pathogenesis of PTHS

PTHS is caused by mutations in the TCF4 gene. TCF4 controls proteins that influence the development of the central nervous system. When a gene mutates, the protein product may be defective, inefficient, missing, or overproduced, which can affect many organs and systems in the body, such as the brain.

TCF4 mutations may be new mutations or inherited from parents. In most cases, the genetic mutation occurs during the egg or sperm period, and the child will develop the disease but other family members will not be affected. If one parent has this mutation, PTHS usually occurs in an autosomal dominant form, and the child has a 50% chance of inheriting the genetic change.

Fig.1 TCF4-related signaling pathways in the nervous system.Fig.1 TCF4-related signaling pathways in the nervous system. (Sweatt, J. David, 2013)

Diagnostics Development of PTHS

Genetic Testing

Genetic Testing

Genetic testing is the most accurate and effective way to diagnose PTHS. PTHS can be confirmed by molecular genetic testing for heterozygous pathogenic variants in TCF4 or detection of deletions in the chromosomal region where TCF4 is located (18q21.2).

Diagnostic Test

Diagnostic Test

Additional diagnostic tests may be warranted to evaluate specific symptoms or complications associated with PTHS. For instance, electroencephalogram (EEG) and MRI scans of the brain can provide valuable insights if the individual experiences seizures or other neurological issues.

Therapeutics Development of PTHS

While there are currently no specific medications approved to treat PTHS, symptomatic therapy may be employed to address specific symptoms and improve quality of life. Therapeutic drugs include anti-epileptic drugs, gastrointestinal drugs, sleep aids, etc. Currently, scientists and pharmaceutical companies are focusing on studying the mechanism and potential targets of PTHS to develop new drugs.

Target Name Description
TCF4 Signaling Pathway Targeting the TCF4 gene and its downstream signaling pathway shows promise as a therapeutic strategy for PTHS. Approaches may include small molecules, gene therapy, or other methods to modulate TCF4 expression or function.
Enhancing Synaptic Function Developing drugs that enhance synaptic transmission and plasticity is a focus of therapeutic development for PTHS. This involves exploring compounds that target neurotransmitter systems like GABAergic or glutamatergic pathways, aiming to improve synaptic function and promote better neuronal connections.
  • Latest Research Progress in PTHS Therapy Development

Restoring TCF4 gene expression levels is an important strategy for the development of PTHS therapies. A study successfully created the PTHS mouse model in which TCF4 levels were halved. The researchers then employed adeno-associated virus (AAV) to perform gene therapy on PTHS mice to restore the expression of the missing TCF4. This therapeutic led to notable changes in neuronal activity patterns in the treated mice, demonstrating the potential effectiveness of gene therapy for PTHS.

Our Services

Our company has established a comprehensive platform for rare disease diagnostics and therapy development, encompassing small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein. Through our dedicated platforms, we are fully devoted to advancing the development of innovative diagnostic tools and therapeutics for PTHS. Our focus on the AAV development platform specifically plays a crucial role in driving progress in gene therapy for PTHS.

Recognizing the significance of animal disease models in the development of therapeutics for PTHS, we offer our expertise in establishing mouse models specifically tailored for PTHS. These models serve as invaluable tools to facilitate safety evaluation and pharmacokinetics study of your drug candidates.

Animal Models of PTHS

  • Tcf4tr/+
  • Tcf4+/D574−579
  • Tcf4+/R579W
  • Actin-Cre::Tcf4+/floxed
  • Nestin-Cre::Tcf4+/floxed

Regardless of your current stage of research, we offer comprehensive research services tailored to your needs. If you are interested in our services, please don't hesitate to contact us for more information and a detailed quotation regarding the specific services you require.


  • Sweatt, J. David. "Pitt–Hopkins syndrome: intellectual disability due to loss of TCF4-regulated gene transcription." Experimental & molecular medicine 45.5 (2013): e21-e21.
  • Zollino, Marcella, et al. "Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement." Clinical Genetics 95.4 (2019): 462-478.
  • Phan, BaDoi N., et al. "A myelin-related transcriptomic profile is shared by Pitt–Hopkins syndrome models and human autism spectrum disorder." Nature neuroscience 23.3 (2020): 375-385.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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