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Accelerating Prader-Willi Syndrome Drug Development

Prader-Willi syndrome (PWS) presents complex therapeutic challenges due to its multifaceted genetic and clinical profile, necessitating innovative and targeted drug development strategies. Protheragen stands as a specialized partner in advancing therapeutics for Prader-Willi syndrome, offering a comprehensive suite of preclinical drug development solutions spanning target validation, lead optimization, and IND-enabling studies. Leveraging deep scientific expertise and state-of-the-art technology platforms, Protheragen integrates rigorous pharmacological evaluation, in vivo efficacy models, and translational biomarker development to ensure robust and reproducible data packages. Our operations adhere to the highest standards of regulatory compliance, facilitating a seamless transition from discovery to clinical candidate nomination. By combining scientific rigor with advanced capabilities, Protheragen is dedicated to accelerating the development of effective therapies for Prader-Willi syndrome, empowering partners to achieve meaningful breakthroughs for patients with this rare and challenging disorder.

What is Prader-Willi SyndromeTargets for Prader-Willi SyndromeDrug Discovery and Development ServicesWhy Choose Us

What is Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a rare, complex genetic disorder resulting from the loss of expression of paternally inherited genes in the chromosome 15q11-q13 region. This absence most commonly arises due to a paternal deletion, maternal uniparental disomy, or imprinting center defects. The disrupted gene expression impairs hypothalamic function, leading to abnormalities in satiety regulation, hormone secretion, and metabolic control. The disorder affects multiple organ systems and is associated with lifelong health challenges. Clinically, PWS is characterized by severe neonatal hypotonia, feeding difficulties in infancy, followed by hyperphagia, rapid weight gain, short stature, cognitive impairment, hypogonadism, and behavioral problems. Diagnosis is based on clinical features and confirmed by molecular genetic testing, with methylation analysis of the 15q11-q13 region serving as the primary diagnostic tool. Additional genetic tests help distinguish among the different molecular types. Management of PWS is multidisciplinary, focusing on early intervention, dietary control, and behavioral support. Pharmacological treatments include diazoxide choline to address hyperphagia and recombinant human growth hormone (such as somatropin) to promote growth, reduce body fat, and improve physical strength. Early diagnosis and comprehensive care are essential for improving quality of life and long-term outcomes.

Launched Drugs

Structure Generic Name Molecular Formula Molecular Weight
img-unknown-diazoxide-choline-usan diazoxide choline (USAN) C8 H6 Cl N2 O2 S . C5 H14 N O 333.834
recombinant human growth hormone; recombinant somatropin; somatropin (rbe)
somatropin (epr) (Rec INN; USAN; BAN)

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Targets for Prader-Willi Syndrome

Targets in Clinical or Later Phases of Development

Target Name Gene Symbol
growth hormone receptor GHR
K(ATP) Channel (nonspecified subtype)
histamine receptor H3 HRH3
oxytocin receptor OXTR
oxytocin/neurophysin I prepropeptide OXT
taste 2 receptor member 31 TAS2R31
taste 2 receptor member 30 TAS2R30
taste 2 receptor member 10 TAS2R10
taste 2 receptor member 4 TAS2R4
Taste receptor type 2 (nonspecified subtype)

Prader-Willi syndrome (PWS) is characterized by complex neuroendocrine dysfunctions, with several molecular targets playing pivotal roles in disease pathogenesis. Central to appetite and energy homeostasis are the melanocortin 4 receptor (MC4R) and melanocortin 3 receptor (MC3R), both G protein-coupled receptors in the hypothalamus that regulate food intake and energy expenditure. Membrane bound ghrelin O-acyltransferase (MBOAT4) controls the activation of ghrelin, a hunger-stimulating hormone, while the growth hormone receptor (GHR) mediates growth hormone effects on metabolism and body composition. In addition, the oxytocin receptor (OXTR) and its ligand precursor, oxytocin/neurophysin I prepropeptide (OXT), are crucial for social behavior, emotional regulation, and satiety, all of which are disrupted in PWS due to hypothalamic dysfunction and impaired oxytocinergic signaling. Therapeutically, these targets offer promising avenues for intervention. MC4R agonists, such as setmelanotide, are being investigated for syndromic obesity, including PWS, with early results showing potential benefits in appetite control. Recombinant growth hormone therapy, targeting GHR, is already established as a standard of care in PWS to improve growth and metabolic outcomes. Inhibitors of MBOAT4 are under exploration to reduce hyperphagia by modulating ghrelin activity. For neurobehavioral symptoms, intranasal oxytocin and OXTR-targeted therapies are in clinical trials, aiming to improve social functioning and reduce maladaptive behaviors. Collectively, these targets not only enhance understanding of PWS mechanisms but also underpin the development of tailored, mechanism-based therapies.

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Drug Discovery and Development Services

In Vitro Efficacy Testing ServicesIn Vivo Model DevelopmentPK/PD Study ServicesIn Vivo Toxicity Assessment ServicesBiomarker Analysis Services
In Vitro Efficacy Testing Services

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Our In Vitro Efficacy Testing Service accelerates Prader-Willi syndrome drug discovery by providing robust, sensitive assays targeting key receptors such as oxytocin, melanocortin, histamine H3, and growth hormone receptors. Utilizing advanced methodologies—including chemiluminescent, fluorescent, radioligand binding, surface plasmon resonance, and functional signaling assays—we deliver comprehensive pharmacological profiling. Key parameters measured include EC-50, IC-50, Kd, Ki, and MIC, enabling precise assessment of compound potency, efficacy, and binding affinity. This integrated approach supports medicinal chemistry optimization, compound prioritization, and informed decision-making, ensuring the highest standards in early-stage therapeutic evaluation for Prader-Willi syndrome.

Growth Hormone Receptor Histamine Receptor H3
Melanocortin 1 Receptor Melanocortin 3 Receptor
Melanocortin 4 Receptor Oxytocin Receptor

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Why Choose Us

Choosing Protheragen for your Prader-Willi syndrome drug development needs means partnering with a team that brings deep, specialized expertise to every stage of the process. Our dedicated scientists and professionals have extensive experience in Prader-Willi syndrome research, ensuring that each project benefits from the latest insights and a thorough understanding of the disease’s unique challenges. At Protheragen, we leverage advanced technology platforms and state-of-the-art methodologies to accelerate preclinical drug development, providing our clients with reliable and efficient solutions. Our proven track record in delivering high-quality preclinical services demonstrates our commitment to reliability and excellence. We adhere to rigorous quality standards and maintain strict regulatory compliance throughout our operations, giving you confidence in both the process and the results. Above all, Protheragen is deeply committed to advancing therapeutics for Prader-Willi syndrome, striving to bring hope and improved outcomes to patients and families affected by this condition. With Protheragen, you can trust that your project is in the hands of professionals who are as dedicated to your goals as you are.

FAQs for Our Services

Q: What are the main preclinical research challenges specific to developing drugs for Prader-Willi syndrome?

A: Prader-Willi syndrome (PWS) presents unique preclinical challenges due to its complex genetic basis, multisystemic manifestations, and the lack of robust animal models that fully recapitulate the human phenotype. Developing relevant in vivo and in vitro models is critical for evaluating efficacy and safety. Additionally, the heterogeneity in symptom presentation requires careful selection of pharmacodynamic endpoints. Our team leverages advanced genetic engineering and phenotypic screening platforms to address these challenges and generate actionable preclinical data.

Q: What regulatory considerations should be taken into account for preclinical drug development targeting Prader-Willi syndrome?

A: Given the rarity and severity of PWS, regulatory agencies such as the FDA and EMA provide specific guidance for orphan drug development. Preclinical programs must be designed to meet regulatory expectations for rare diseases, including comprehensive safety pharmacology, toxicology, and proof-of-concept efficacy studies. Early and proactive engagement with regulators is recommended to align on study design, endpoints, and data requirements. Our company has extensive experience navigating orphan drug pathways and can support clients through pre-IND and scientific advice meetings.

Q: What technical aspects are critical for successful preclinical research in Prader-Willi syndrome?

A: Key technical aspects include the selection and validation of disease-relevant models, such as genetically engineered mice or patient-derived cell systems, and the establishment of robust biomarkers for efficacy and safety assessment. Advanced molecular and behavioral assays are often required to capture the multifaceted symptomatology of PWS, including hyperphagia, metabolic dysfunction, and neurodevelopmental deficits. Our multidisciplinary team employs state-of-the-art technologies to ensure translational relevance and high-quality data.

Q: What are the typical timeline and cost considerations for preclinical development of drugs targeting Prader-Willi syndrome?

A: Preclinical development timelines for PWS drugs are influenced by the complexity of model development, the need for specialized assays, and regulatory requirements. Generally, the process from target validation through IND-enabling studies can take 18–36 months, with costs varying widely depending on the program’s scope and the need for custom model generation. Our company offers tailored project management and budgeting services to optimize timelines and control costs while maintaining scientific rigor.

Q: What are the main success factors in preclinical drug development for Prader-Willi syndrome?

A: Success in preclinical PWS drug development hinges on selecting the right therapeutic targets, employing validated disease models, and generating robust, reproducible data that support clinical translation. Close collaboration with key opinion leaders, patient advocacy groups, and regulatory agencies is also crucial. Our expertise in rare disease preclinical research, combined with our integrated approach to project execution, positions our clients for successful progression to clinical development.

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