thought leadership

FEBRUARY 26, 2025

Rare diseases are defined in the Orphan Drug Act as diseases or conditions that affect less than 200,000 people in the United States. Evaluating and developing treatments for rare diseases remains a key priority for FDA and is incentivized through the Orphan Drug Act.

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Clinical Development Disease Production FDA Approval 52

Science Daily: Pharmacology News

JULY 27, 2023

A gene encoding a protein linked to tau production -- tripartite motif protein 11 (TRIM11) -- was found to suppress deterioration in small animal models of neurodegenerative diseases similar to Alzheimer's disease (AD), while improving cognitive and motor abilities, according to new research.

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Disease Regulations Treatment Production 188

BioPharma Drive: Drug Pricing

JUNE 12, 2023

The company said the spending will help it manufacture future treatments for chronic diseases, adding to a string of recent plant investments.

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Production Treatment Disease Drugs 205

Covalent Modifiers

MARCH 8, 2025

4c02644 NADPH oxidases (NOXs) are enzymes dedicated to reactive oxygen species (ROS) production and are implicated in cancer, neuroinflammation, and neurodegenerative diseases. It alkylates a conserved active-site cysteine, blocking productive substrate binding. VAS2870 is a covalent inhibitor of mainly NOX2 and NOX5.

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Production Disease 130

ASPET

JULY 15, 2024

has a long history of medicinal use, particularly for gastrointestinal diseases. Patients with inflammatory bowel disease (IBD) report using cannabis to manage their symptoms, despite little data to support the use of cannabis or cannabis products to treat the disease. Cannabis sativa L.

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Science Daily: Pharmacology News

MARCH 27, 2024

Scientists created a highly accurate reference genome for one of the most important modern crops and found a rare example of how genes confer disease resistance in plants. Exploring sugarcane's genetic code could help researchers develop more resilient and productive crops, with implications for both sugar production and biofuels.

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Production Disease Research 306

Chemical Biology and Drug Design

JANUARY 23, 2024

Abstract Nonalcoholic fatty liver disease (NAFLD) is a chronic liver disease associated with lipid deposition in liver cells and/or subsequent inflammation, excluding other known causes. Among the many factors that shape these transitions, uncoupling protein 2 (UCP2) may be involved in every stage of the disease.

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Production Disease Regulations 100

Broad Institute

APRIL 2, 2024

Scientists link certain gut bacteria to lower heart disease risk By Allessandra DiCorato April 2, 2024 Breadcrumb Home Scientists link certain gut bacteria to lower heart disease risk Study finds several species of cholesterol-metabolizing bacteria in people with lower cholesterol levels.

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Disease Medical Schools Hospitals DNA 145

LifeSciVC

APRIL 24, 2024

Additionally, for illustrative reasons this is geared towards a single target / product focus vs. broader platform diligence, though many of these mental models will apply for selecting targets and indications for a platform. Are there known genetic diseases associated with the target? Is the functionality of mutations known?

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Production Small Molecule Regulations Trials 124

FDA Law Blog: Drug Discovery

JULY 17, 2024

Importantly, the Hub is intended to establish a new model within FDA, which leverages cross-Agency expertise in providing guidance and conducting reviews for products for rare disease populations. Early Direction for the Rare Disease Innovation Hub The Hub, which will be co-chaired by Drs. Valentine & Frank J.

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FDA Disease Clinical Pharmacology Science 105

Drug Target Review

OCTOBER 11, 2023

Almost every one of us will know someone with a neurodegenerative disease such as Alzheimer’s or Parkinson’s. It is less common to know someone with a rare genetic disease; but while individually rare, collectively they have an enormous impact. This will, in turn, slow the progression of, or even halt, the disease.

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Disease Treatment Small Molecule Therapies 113

Cytel

MAY 28, 2024

Written by Susannah Sadler and Stacy Grieve Launching a treatment for inflammatory diseases can be a make-or-break endeavor. Here we describe three case study examples of common issues faced in the inflammatory disease space and how these challenges were overcome using novel solutions, ultimately leading sponsors to submission success.

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Disease Production Treatment Clinical Development 64

On Medicine

FEBRUARY 28, 2024

What is Perthes’ disease? Perthes’ Disease is a rare condition that affects the developing femoral head (the “ball” of the “ball and socket” hip joint) of a child due to poor blood supply. This in turn can cause significant pain for children with Perthes’ disease and limit their activity levels significantly.

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Disease Doctors Treatment Trials 109

Conversations in Drug Development Trends

NOVEMBER 5, 2024

In preparation for World Orphan Drug Congress Europe, we interviewed Nathan Chadwick, Senior Director, Therapeutic Strategy Lead, Rare Disease, and Derek Ansel, MS, LCGC, Vice President, Therapeutic Strategy Lead, Rare Disease, to hear their insights into the current progress in rare disease research and their hopes for 2025.

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Disease Clinical Trials Therapies Clinical Research 52

Drug Target Review

AUGUST 31, 2023

In the pursuit of a remedy for Alzheimer’s disease, a frontier in medical science is illuminating a glimmer of hope. Chronic inflammation involving microglia has been linked to the disease, as the release of inflammatory molecules triggers an increase in β-amyloid production.

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Therapies Disease Treatment Research 105

Drug Channels

APRIL 4, 2022

Rare Disease Innovation & Partnering Summit. Don’t miss the Rare Disease Innovation & Partnering Summit, coming up May 17-19, 2022 in Boston, MA. Hybrid Event May 17-19, 2022 | Boston, MA www.informaconnect.com/rare. Visit www.informaconnect.com/rare for further details and to register.

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Disease Therapies FDA Trials 98

DrugBank

JULY 20, 2023

Rare diseases, therefore, present compelling opportunities for Drug Development. Since each disease is present in small groups of patients, this research is also fraught with complex challenges. We're excited to expand our data offering by launching a new Rare Disease add-on to complement our Clinical Trial dataset.

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Disease Clinical Trials Trials FDA 98

Broad Institute

AUGUST 17, 2023

By Makenzie Kohler August 17, 2023 Credit: Allison Colorado, Broad Communications Katherine Chao is the product manager for gnomAD. By Makenzie Kohler August 17, 2023 Credit: Allison Colorado, Broad Communications Katherine Chao is the product manager for gnomAD. What do you do as product manager of gnomAD?

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Disease Production Science Research 98

FDA Law Blog: Drug Discovery

DECEMBER 13, 2023

Sasinowski — On December 12, 2023, FDA announced the creation of a new advisory committee specifically for treatments for genetic metabolic diseases, the Genetic Metabolic Diseases Advisory Committee, or “GeMDAC.” There are hundreds of known genetic metabolic diseases, most of which are rare and carry significant morbidity.

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Disease Production FDA Drug Development 59

Drug Patent Watch

DECEMBER 9, 2024

High-Throughput Screening: Modern Technology Meets Natural Products Advanced technologies now allow researchers to rapidly test thousands of natural compounds against specific disease targets. The development of Taxol involved multiple patents, including those for the isolation method, synthetic production, and various formulations.

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Drugs Drug Development Pharmaceuticals Production 96

Drug Target Review

OCTOBER 30, 2024

Imagine being able to create an in vitro replica of a diseased organ to study the molecular mechanism underlying the illness. Now take a step further: envision testing drugs in these organoids to identify the ones that can treat disease safely and effectively without needing to run expensive clinical trials first.

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Treatment Disease Clinical Trials Research 105

Drug Target Review

MAY 28, 2024

How do senescent cells contribute to degenerative diseases, cancer, and immuno-senescence? Ultimately, senescent cells are an important driver in the development and progression of nearly all diseases, including degenerative diseases and cancer. This is responsible for promoting inflammation, degenerative diseases, and cancer.

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Disease DNA Production 78

Conversations in Drug Development Trends

NOVEMBER 12, 2024

By Amy Raymond, PhD, PMP, Executive Director, Therapeutic Strategy Lead, Rare Disease Cell and gene therapies (CGTs) include cutting-edge approaches that offer the hope of a healthier, happier, and better tomorrow for a wide range of patient populations. There are also nuances for operational planning in cell therapy development programs.

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Therapies Clinical Supply Clinical Trials Trials 72

Drug Target Review

APRIL 7, 2025

As our understanding of the underlying biology of disease grows more sophisticated, emerging therapies operate on increasingly complex biopathological systems and mechanisms. Monitoring biomarkers can help assess changes in a disease, its level of expression, or the extent of its progression.

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Clinical Development Clinical Trials Clinical Pharmacology Trials 69

Conversations in Drug Development Trends

MAY 14, 2024

By: Amy Raymond, Derek Ansel, Nathan Chadwick, & Juliane Mills When choosing a CRO for a rare disease study, what truly sets them apart is their methodology: the CRO’s mindset, their approach to each unique study, and their agility in navigating the inherent complexities of rare disease research. Common goals empower change.

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Disease Clinical Trials Trials Pharmaceutical Companies 81

PPD

MARCH 11, 2025

While individual rare diseases affect populations that are small in numbers, collectively they impact millions globally, posing significant health and research challenges. Real-world data (RWD) and real-world evidence (RWE) have emerged as transformational tools in addressing these hurdles, advancing rare disease drug development.

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Drug Development Clinical Trials Disease Trials 52

Cytel

MAY 7, 2024

Here we explore the evolution and impact of market exclusivity policies in the EU and US, highlighting their role in fostering innovation and accessibility in rare disease treatment. This was a turning point, igniting a wave of research and development into treatments for rare diseases that had previously been neglected.

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Marketing Production Drugs Disease 59

PPD

JANUARY 15, 2025

As clinical trials become increasingly complex, particularly in decentralized trials and rare disease studies, sponsors experience increased challenges in site selection, forecasting and resourcing, and patient recruitment and enrollment.

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Clinical Trials Trials Clinical Research Drug Development 95

ASPET

SEPTEMBER 6, 2023

However, aberrant TLR7/8 activation by endogenous ligands has been implicated in the pathogenesis of autoimmune diseases including systemic lupus erythematosus. TLR activation and Type-I interferon (IFN) were shown recently to impart resistance to glucocorticoids (GC), which are part of the standard of care for multiple autoimmune diseases.

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Disease RNA Treatment Regulations 100

ASPET

MAY 22, 2024

There is a growing interest in the use of medicinal plants to treat a variety of diseases, and one of the most commonly used medicinal plants globally is Cannabis sativa. The preliminary studies on CBC indicate that this phytocannabinoid may have unique therapeutic potential that warrants further investigation.

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Pharmacokinetics Disease Production Research 185

Drug Target Review

MAY 18, 2023

Foetal haemoglobin (HbF) is the predominant type of haemoglobin (Hb) in foetal life and remains so until just before birth when its production is turned down while the production of adult Hb is turned up. In sickle cell disease, however, this function is impaired, leading to a range of potential health consequences.

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Disease Clinical Trials Drugs Trials 80

Drug Patent Watch

DECEMBER 12, 2024

Identifying branded drugs with a low likelihood of generic entry has become a crucial strategy for companies looking to expand their product portfolio through in-licensing. Drugs requiring specialized equipment, complex formulations, or intricate production methods are less likely to face immediate generic competition.

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Licensing Licensing Drugs Biosimilars 92

Conversations in Drug Development Trends

NOVEMBER 21, 2023

Since the advent of modern medicine, the scientific community has developed more than 3,000 drugs for thousands of diseases. Despite significant progress, there are more than 6,500 rare diseases without a single approved treatment. There are so many patients suffering from diseases that have no treatments.

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Disease Treatment Clinical Trials Clinical Development 78

Cytel

FEBRUARY 13, 2024

Adler, MPA, Director, Global Product Engagement, and Valeria Mazzanti, MPH, Associate Director, Customer Success Rare disease studies come with their own unique challenges, particularly limited patient populations. Written by Boaz N.

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Disease Clinical Trials Trials Production 69

ASPET

JUNE 4, 2024

Significance Statement Despite increasing use of cannabis products, the potential effects of minor cannabinoids are largely unknown. Here, the minor cannabinoid 8 -THC blocked the development of experimentally induced arthritis by preventing both pathophysiological as well as functional effects of the disease model.

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Treatment Disease Production 186

Cytel

MARCH 11, 2024

In 2023, rare diseases accounted for 30% of product pipeline under development, about half of which comprising non-oncology rare diseases. Clinical development in rare diseases has specific challenges. Effective clinical development strategy for rare diseases requires agility to adapt to accumulating learning.

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Clinical Trials Trials Disease Clinical Development 59

Cytel

FEBRUARY 26, 2024

Adler, MPA, Director, Global Product Engagement, and Valeria Mazzanti, MPH, Associate Director, Customer Success In our previous post , we provided an overview of some of the challenges in studying rare disease therapies, as well as some of the statistical methods and design types that can be deployed to mitigate these challenges.

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Clinical Trials Disease Trials Therapies 59