RARECast

While there is a steady stream of new gene therapies expected to be approved in the next decade, there are hundreds of diseases that could benefit from gene therapies but are not pursued by drug developers because they affect too small a population to be considered commercially viable. In an effort to change the economics of gene therapy for ultra-rare diseases, the Foundation for the National Ins...

Despite the ability of whole genome sequencing to diagnose patients with rare genetic disease, the technology still leaves many patients without a clear diagnosis. Rady Children’s Institute for Genomic Medicine, which has innovated the use of rapid whole genome sequencing in the neonatal and pediatric ICU, is now working to diagnosed patients left undiagnosed by whole genome sequencing with long-r...

Many rare diseases cause unique changes to facial features that can provide insights for doctors seeking searching for a diagnosis. Researchers at Children’s National Hospital have developed software uses machine learning technology and images captured with a cellphone to quickly recognize disease patterns not immediately obvious to the human eye to help physicians accelerate the diagnosis of gene...

Advances in communication, information, and monitoring technologies have enabled the advent of decentralized clinical trials, but the COVID-19 pandemic crystalized the interest of regulators and trial sponsors. In fact, most biopharmaceutical companies today now expect to use elements of decentralized clinical trials in studies going forward. Science 37 is providing a software platform to enable d...

Chronic kidney diseases represent a growing worldwide problem with a lack of effective treatments. An improved understanding of the biology of kidney disease is fueling growing drug development activity. Chinook Therapeutics is focused on rare, severe chronic kidney diseases with well-defined clinical pathways. Its lead clinical program, atrasentan, is in a late-stage study in IgA nephropathy, a l...

While genetic medicines promise to transform the way rare diseases are treated, one of the greatest challenges to realizing the full potential of these new therapies is the delivery of them to the cells within the body where they must go to be effective. James Dahlman, associate professor in the Department of Biomedical Engineering at Georgia Tech and Emory University, has been working to address...

RNA therapies offer great promise for addressing rare genetic diseases by disrupting the translation of pathogenic genes into disease-causing proteins or getting the body to produce a needed protein it lacks. But the challenge of delivering these therapies to tissue where they need to go to be effective has limited the diseases that have been treated with these therapies to date. DTx Pharma has de...

When Genzyme won approval for an enzyme replacement therapy for Gaucher disease in 1991, the company launched a humanitarian aid program for rare diseases. Now as part of Sanofi, the pharmaceutical company has continued and expanded the program, which now includes five different lysosomal storage disorders, as well as rare blood disorders. We spoke to Bill Sibold, executive vice president of Sanof...

Ashley Walker spent the first 20 years of her life misdiagnosed as having a form of muscular dystrophy. It was only after her twin sons Alexander and Jayden suffered severe respiratory complications following their birth that she and her boys were all diagnosed with X-linked myotubular myopathy, a rare neuromuscular disease. Though the condition predominantly affects males, female carriers like Wa...

The use of model system, such as fruit flies and worms, to screen existing drugs for their potential to treat rare genetic diseases offers a relatively fast and economic method to find candidates for repurposing. The success at screening 4,000 compounds in a worm model of the neurodegenerative disease ALS to identify a candidate that is now in human clinical testing gave rise to Modelis, a Canadia...

Charcot-Marie Tooth disease is a rare, genetic nerve condition that affects 150,000 Americans and nearly 3 million people around the world. Though the condition was first medically recognized in 1886, it is without an approved therapy. The CMT Research Foundation has been seeking to change that by addressing barriers to the development of therapies for CMT. We spoke to Susan Ruediger, founder and...

DNA-modified cells can behave unpredictably in the body and there is a risk that they could proliferate uncontrolled, cause severe toxicities, and even survive unchecked for months or years. Cartesian uses its platform technology to engineer RNA into cells, making time-controlled changes. The company is developing treatments for cancer, respiratory conditions, and autoimmune diseases such as myast...

Classic congenital adrenal hyperplasia, or CAH, is a potentially life-threatening rare genetic disorder characterized by an inability to produce the stress hormone cortisol while causing excess production of androgens, or male sex hormones. The condition has long-been treated with steroids, but about 70 percent of patients with the condition have poorly controlled disease. The problem is that it i...

The imbalance between the supply and demand for gene therapy manufacturing capacity is creating opportunities for contract development and manufacturing organizations. Forge Biologics is seeking to leverage its expertise in AAV gene therapy as a CDMO while developing its own pipeline of experimental gene therapies. We spoke to Tim Miller, co-founder and CEO of Forge Biologics, about the company’s...

Precision, safety, and durability are challenges for gene replacement and gene editing therapies. LogicBio Therapeutics says its GeneRide platform technology addresses these challenges by harnessing a natural DNA repair process. We spoke to Daniel Gruskin, chief medical officer of LogicBio, about the company’s platform technology, the advantages it provides, and the company’s lead experimental the...

Health records can be a rich source of data that can help provide an understanding of a rare disease and drive the development of therapies to treat them. But the siloing of this data, the use of inconsistent terminology, and the unstructured nature of aspects of these records all stand as barriers to harnessing their potential. The consumer health technology company Ciitizen is working to give pa...

The translational challenges of moving an experimental therapy from the lab to the clinic can stall the development of life-saving therapies, but Passage Bio has provided a unique solution to that challenge. The company’s strategic collaboration and licensing agreement with the University of Pennsylvania’s Gene Therapy Program leaves the discovery and preclinical work in the hands of Penn research...

Earlier the month the U.S. Food and Drug Administration approved Apellis Pharmaceuticals Empaveli to treat paroxysmal nocturnal hemoglobinuria (PNH), a rare and life-threatening condition in which the body’s immune system destroys the oxygen carrying red blood cells. Like existing treatments Soliris and Ultomiris, Empaveli works to inhibit the complement system, but it is the first therapy to targ...

In some diseases, such as lysosomal storage disorders, proteins are unable to serve their normal functions because they become misfolded. While some approaches, such as enzyme replacement therapies, have been used to treat these conditions, they can have significant limitations. Gain Therapeutics has developed a platform for using small molecule therapies to return proteins to their proper shape a...

Mouse models can play an essential role in allowing researchers to understand rare diseases and develop drugs to treat them. Cat Lutz, senior director of mouse repository and in vivo pharmacology genetic resource science at The Jackson Laboratory, researches mice as a model for human neurodegenerative disease. The lab’s mouse repository and Rare and Orphan Disease Center today features more than 1...

The recruitment of patients for rare disease clinical trials can be challenging because of issues such as small patient populations and their geographic dispersity, but the failure to take a patient-centric approach in designing trial protocols can add to the difficulties sponsors face in conducting such studies. The Center for Rare Diseases at PRA Health Sciences recently issued a toolkit focused...

The advent of genome editing is creating the potential to correct the underpinnings of genetic diseases by rewriting the mutations that cause them. Before these emerging technologies can be put to use to treat and cure genetic diseases broadly, a number of challenges must be overcome. These include such things as validating new gene editing technologies, finding ways to deliver them precisely to t...

PTC Therapeutics, through its partnership with the SMA Foundation and Genentech, won approval last year for Evrysdi, the first oral therapy for the rare neurodegenerative condition spinal muscular atrophy. Now, the SMA Foundation is working with the company to discover and develop regenerative treatments that can reverse the damage done by the disease. At the same time, the company is advancing it...

Chandler Crews was born with the rare, genetic condition achondroplasia, the most common form of dwarfism. In 2010, she decided to undergo a series of limb lengthening surgeries, which over a four-year period increased her height to 4’ 11” from 3’ 10.” We spoke to Crews, founder and president of the nonprofit patient organization The Chandler Project, about her experiences living with the conditio...

Children’s Mercy Research Institute has been expanding its efforts to understand the genetics underlying rare diseases. Earlier this year, it opened a new home in downtown Kansas City and at the end of last year launched Genomic Answers for Kids, a first of its kind pediatric data repository and the institutes flagship research initiative. We spoke to Tom Curran, senior vice president, chief scien...