While there are approximately 7,000 identified human diseases considered as "rare" based on population prevalence or incidence, the cumulative impact runs into the millions of patients globally. Although the genetic underpinnings of more than 2,000 rare diseases have been elucidated, there remains a paucity of therapeutic options, frequently due to lack of commercial interest. Development programs suffer high attrition within the so-called "Valley of Death," in which the risks of scientific failure are still too high to justify the increasing development costs. This problem is common to any drug development campaign, but it is particularly exacerbated in the rare diseases, many of which arise in childhood. To stimulate development of therapeutics for these otherwise underserved patient populations, a number of regulatory incentives and research initiatives have been established. Extended patent protections, expedited regulatory reviews for qualified drug sponsors, and clinical trial grant support aim to foster interest in completing development programs. To stimulate researchers to embark on rare disease drug development campaigns, earlier-stage preclinical research resources have been created, as well, such as the Therapeutics for Rare and Neglected Diseases (TRND) program at the U.S. National Institutes of Health (NIH). TRND is a unique NIH program created to support drug development through formation of public-private partnerships. These partnerships leverage the robust biopharmaceutical industry experience of the TRND staff scientists and the deep disease area expertise of the collaborating partners. Each project adopted into the TRND portfolio aims to satisfy two broad goals: developing a novel therapy for a rare or otherwise neglected disease, and exploring ways to accelerate the drug development process overall so that lessons learned can be disseminated to the wider community undertaking translational research. This article discusses common obstacles and opportunities for therapeutic development, and provides examples of the types of projects TRND has undertaken across a broad range of pediatric rare disorders.
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http://dx.doi.org/10.1007/s40290-014-0047-5 | DOI Listing |
Pharmacotherapy
January 2025
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.
Background: Lamotrigine clearance can change drastically in pregnant women with epilepsy (PWWE) making it difficult to assess the need for dosing adjustments. Our objective was to characterize lamotrigine pharmacokinetics in PWWE during pregnancy and postpartum along with a control group of nonpregnant women with epilepsy (NPWWE).
Methods: The Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study was a prospective, observational, 20 site, cohort study conducted in the United States (December 2012 and February 2016).
CNS Neurosci Ther
January 2025
Qingshan Lake Science and Technology Innovation Center, Hangzhou Medical College, Hangzhou, China.
Background: Ischemic stroke is a prevalent and life-threatening cerebrovascular disease that is challenging to treat and associated with a poor prognosis. Astragaloside IV (AS-IV), a primary bioactive component of Astragali radix, has demonstrated neuroprotective benefits in previous studies. This study aimed to explore the mechanisms through which AS-IV may treat cerebral ischemia-reperfusion injury (CIRI).
View Article and Find Full Text PDFN4-acetylcytidine (ac4C) modification is a crucial RNA modification widely present in eukaryotic RNA. Previous studies have demonstrated that ac4C plays a pivotal role in viral infections. Despite numerous studies highlighting the strong correlation between ac4C modification and cancer progression, its detailed roles and molecular mechanisms in normal physiological processes and cancer progression remain incompletely understood.
View Article and Find Full Text PDFMedComm (2020)
January 2025
Chikungunya virus (CHIKV) is a mosquito-borne alphavirus that is primarily known for causing severe joint and muscle symptoms, but its pathological effects have extended beyond these tissues. In this study, we conducted a comprehensive proteomic analysis across various organs in rodent and nonhuman primate models to investigate CHIKV's impact on organs beyond joints and muscles and to identify key host factors involved in its pathogenesis. Our findings reveal significant species-specific similarities and differences in immune responses and metabolic regulation, with proteins like Interferon-Stimulated Gene 15 (ISG15) and Retinoic Acid-Inducible Gene I (RIG-I) playing crucial roles in the anti-CHIKV defense.
View Article and Find Full Text PDFEClinicalMedicine
December 2024
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
Background: Therapeutic advancements for the polyglutamine diseases, particularly spinocerebellar degeneration, are eagerly awaited. We evaluated the safety, tolerability, and therapeutic effects of L-arginine, which inhibits the conformational change and aggregation of polyglutamine proteins, in patients with spinocerebellar ataxia type 6 (SCA6).
Methods: A multicenter, randomized, double-blind, placebo-controlled phase 2 trial (clinical trial ID: AJA030-002, registration number: jRCT2031200135) was performed on 40 genetically confirmed SCA6 patients enrolled between September 1, 2020, and September 30, 2021.
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