Rich Horgan believes that there’s an alternative path to drug development that can lower costs and the time it takes to bring drugs to market. He is trying to apply it to the field of rare and ultra-rare diseases.

Biogen’s Reata Pharmaceuticals acquisition brings Skyclarys, the first and only FDA-approved therapy for the rare neuromuscular disease Friedreich’s ataxia. Biogen says Skyclarys complements the other neuromuscular drugs in its portfolio.

Biohaven’s bid to bring to market the first drug for rare neuromuscular disorder spinocerebellar ataxia has hit a setback. The FDA is refusing to review the drug’s application, a decision that could indicate the agency wants another clinical trial.

Novartis’s acquisition of DTx Pharma brings a lead program for a rare disease with no FDA-approved therapies. But the deal could also help the pharma giant bring new RNA therapies to new places in the body, a top Novartis executive explained.

Septerna Therapeutics’ Series B financing will support plans to reach the clinic with a pill for a rare disease whose only approved therapy is a Takeda Pharmaceutical drug that’s leaving the market. Potential rival therapies are all injectables.

The FDA approved UCB’s Rystiggo for treating generalized myasthenia gravis. Drugs are already available for the rare neuromuscular disorder, but Rystiggo’s approval includes treatment of a subset of patients not addressed by other products.

Ipsen drug Bylvay is now FDA approved for treating pruritus, or severe itching, which is a complication of the rare liver disease Alagille syndrome. The oral drug was previously approved for treating pruritus in another rare inherited liver disease called PFIC.

Novartis is acquiring Chinook Therapeutics in a $3.2 billion deal that brings two late-stage drug candidates for a rare kidney disorder. The Novartis drug pipeline already has a molecule in late-stage development for the same kidney disease, which could raise questions from antitrust regulators.

Krystal Biotech’s Vyjuvek is approved to treat recessive and dominant forms of dystrophic epidermolysis bullosa (DEB), a rare genetic skin disorder. The redosable gene therapy, applied to the skin, delivers a gene that gets cells to produce collagen that DEB patients lack.

A drug developed by Protalix BioTherapeutics and Chiesi Group is now FDA approved for treating Fabry disease, a rare inherited metabolic disorder. The drug, Elfabrio, is an enzyme replacement therapy.

Travere Therapeutics drug Filspari won accelerated FDA approval to treat a rare disorder that can lead to kidney failure. The small molecule is also in late-stage testing for another rare kidney disease; analysts say each indication represents a blockbuster opportunity.

Fewer new drugs won FDA approvals in 2022 compared to previous years, but some of the products that passed regulatory muster are indicative of trends expected to continue into 2023. For example, more gene and cell therapies are on track to face regulatory decisions in the coming year.

Atacicept, a Vera Therapeutics drug in development for the rare kidney disease immunoglobulin A nephropathy, is on its way to a pivotal test after achieving the main goal of a mid-stage clinical trial. But the results still fall short of data recently reported by a competitor that is addressing the same disease target.

Children’s Mercy is claiming to build “the most advanced genomic sequencing system in the world” through its novel use of 5-base sequencing. Since launching three years ago, the system has already provided 1,000 children with rare disease diagnoses based on its genome sequencing.

The biggest biotech financing of the past week belongs to a startup developing an immunology drug that could rival blockbuster products sold by big pharmaceutical companies. Cell therapy, cancer, and rare disease also figured into this week’s startup cash hauls.

Intellia Therapeutics has encouraging early clinical data for a gene-editing therapy addressing the rare swelling disorder hereditary angioedema. This therapy, the biotech’s second CRISPR-editing based treatment that performs in vivo edits, offers potential for a one-time treatment of a disease that is currently addressed by chronic oral and injectable drugs.

RNA therapies developer ProQR Therapeutics is eying a future without ophthalmology. After receiving European Medicines Agency feedback for its lead program for a rare eye disorder, the biotech has decided to find a strategic partner for all of its eye drug assets and apply its RNA technology to other therapeutic areas.

Pfizer is stopping work on a drug for a rare heart disease after an interim look at Phase 3 data indicated that the study was unlikely to succeed. The small molecule came to Pfizer’s drug pipeline as part of the $11.4 billion acquisition of Array Biopharma in 2019.

Alnylam Pharmaceuticals drug Onpattro, an FDA-approved treatment for nerve pain caused by hereditary transthyretin amyloidosis, now has Phase 3 data showing it can also help the much larger group of patients suffering heart problems from the rare protein disease. An FDA submission is planned, which would pit the Alnylam drug in competition with a blockbuster Pfizer product.

The planned FDA submission follows the report from AstraZeneca and Ionis Pharmaceuticals that their partnered drug, eplontersen, met the main goals of a pivotal study in treating nerve pain caused by hereditary transthyretin-mediated amyloidosis. The data come one week after rival Alnylam Pharmaceuticals won FDA approval for its second drug for this rare disease.

BrightInsight developed the Disease Management Solution to help biopharma and medtech companies bring their Software as a Medical Device (SaMD)  to market faster, according to BrightInsight CEO and Co-founder Dr. Kal Patel.

The startup, which is focused on letting patients share their health records for rare disease research, plans to use the funds to launch 100 rare disease programs. 

Children’s hospitals are launching big efforts to identify more rare diseases through genome sequencing. Even as new treatments become available, many families struggle to reach a diagnosis.

Register for the INVEST Precision Medicine conference, which kicks off today. Over the next three days industry experts will talk about precision medicine developments across pediatrics, bioinformatics, startups and more.

Ensoma contends its technology avoids the complexities of other approaches to gene therapy, which could expand genomic medicine’s reach to more patients and more diseases. Takeda Pharmaceutical is collaborating with the startup on up to five gene therapies.

Amicus Therapeutics CEO John Crowley said the totality of data support the Pompe disease therapy’s submission to the FDA. That rolling application is on track for completion in the second quarter.

The FDA approval clears Regeneron’s drug, Evkeeza, as a treatment for the rarer of two forms of an inherited disease that causes high cholesterol levels. The company already markets Praluent, which treats the more common form of familial hypercholesterolemia.

One year after losing Merck as a partner, KalVista reports mid-stage clinical data for a pill that could offer an alternative to injectable drugs for a rare, potentially life-threatening disease. KalVista plans to meet with the FDA about proceeding to a Phase 3 study.

To help clinicians diagnose rare disease more quickly and accurately, many healthcare organizations are embracing technology solutions like natural language processing (NLP) tools that can create augmented intelligence workflows that facilitate the rapid search of unstructured clinical data from multiple data sources.

An analyst wrote that while the data are positive, the bigger question is how the drug will be priced, based on another drug already on the market for the same disease, HoFH, which affects about 1,300 people in the U.S.