Transthyretin is a protein found in the blood. Its name reflects its function, which is to transport thyroxine and retinol. In the case of a number of rare conditions, the protein becomes unstable and misfold, causing it to accumulate as toxic protein deposits in the heart or peripheral nerves. Eidos Therapeutics, a subsidiary of BridgeBio, is developing an experimental small molecule drug that binds and stabilizes transthyretin in the blood. We spoke to Jonathan Fox, chief medical officer of Ei...
Mar 13, 2019•24 min
The complement system, part of the immune system, has long been used as a target for interventions in certain rare disease. Apellis Pharmaceuticals is developing therapies to treat rare blood and kidney diseases, but by targeting a different part of the complement system than available therapies do today. We spoke to Cedric Francois, co-founder, president and CEO of Apellis, about the complement system, Apellis’ approach, and why he thinks this will lead to better therapies for these rare diseas...
Mar 06, 2019•18 min
One of the challenges rare disease advocates face in advancing research and treatments is finding the patients needed to understand the natural history of a disease and participate in clinical trials. That’s true for cavernous angioma, a formation of abnormal blood vessels in the brain and spinal cord with leaky walls that can cause seizures, stroke symptoms, hemorrhages, and headaches. The Angioma Alliance, though, has hit on an unusual strategy to find patients with the condition to build its ...
Feb 27, 2019•25 min
As CEO of Ionis Pharmaceuticals, Stanley Crooke has been a pioneer in the development of antisense drugs and oversees one of the industry’s largest and most advanced pipelines. Antisense drugs are compelling for rare diseases because of their ability to selectively target specific RNA sequences. These drugs, such as the company’s treatment for spinal muscular atrophy, Spinraza, are transforming the outlook for rare disease patients. We spoke to Crooke about Ionis’ ability to succeed as a platfor...
Feb 20, 2019•34 min
It was about ten months ago that Orchard Therapeutics acquired the gene therapy portfolio of GSK, expanding its pipeline and giving it its first approved therapy. We spoke to Orchard CEO Mark Rothera about his company’s approach to gene therapy, its pipeline, and what he sees as the biggest challenges as Orchard moves towards commercializing its therapies.
Feb 13, 2019•18 min
Harsha Rajasimha was a post-doctoral researcher at the National Institutes of Health when he lost a newborn child to a rare disease. As he entered the world of patient advocacy, he connected with rare disease patients in his homeland of India. Discussions he had there led him to co-found the Organization for Rare Diseases India and the Organization for Rare Diseases India, USA; an effort to bridge the gulf between rare disease patients in the two countries. We spoke to Rajasimha about the rare d...
Feb 06, 2019•34 min
The regenerative medicine sector won major product approvals, advanced a growing pipeline of therapies in development, and enjoyed a surge of investment in 2018. As excitement grows about the potential of these therapies, the industry is also wrestling with complex policy issues that could determine how sustainable these businesses will be and whether patients will ever get to benefit from the potential cures that may soon be within reach. We spoke to Matt Patterson, chairman of the Alliance for...
Jan 30, 2019•28 min
The microbiome, the community of bacteria that live within and on our bodies, has become an area of increasing interest to drug developers, who see the potential to both target these microorganisms and exploit them for therapeutic benefit. Scioto Biosciences has developed a biofilm platform that it believes can better deliver and protect beneficial bacteria to treat disease. The lead indication the company is pursuing is necrotizing enterocolitis, a rare condition primarily afflicting premature ...
Jan 24, 2019•30 min
Tiburio Therapeutics emerged from the orphan drug accelerator Cydan at the start of 2019. The company is developing two clinical stage compounds for rare endocrine disorders that it licensed from Ipsen. We spoke to Tiburio Therapeutics CEO Abraham Ceesay, about rare endocrine disorders, the company’s pipeline, and the case for Cydan’s business model.
Jan 16, 2019•16 min
Aspa Therapeutics is a subsidiary of Bridge Bio that was created to develop a gene therapy to treat Canavan disease, a progressive and fatal neurological disorder for which there is no approved therapy. Canavan is caused by a genetic mutation that results in an enzyme deficiency. We spoke to Eric David, CEO of Aspa, about the condition, the company’s experimental gene therapy, and the benefits of Bridge Bio’s approach.
Jan 09, 2019•31 min
Patient-led collaborations are transforming drug discovery and development in rare disease. How they are doing this will be the topic of a panel discussion at the 2019 Biotech Showcase in San Francisco January 8 at 4:30 p.m. Ahead of that panel, we spoke to Walt Kowtoniuk, principal at Third Rock Ventures and moderator of the panel to discuss the challenges of rare disease drug discovery and development, how patient-led collaborations are addressing these challenges, and how patient involvement ...
Jan 02, 2019•21 min
Last month, the U.S. Food and Drug Administration approved Sobi’s Gamifant to treat HLH, an ultra-rare condition characterized by hyperinflammation with high morbidity and mortality. The approval strengthens Sobi’s immunology franchise in the United States. We spoke to Rami Levin, president of Sobi North America, and Carol Satler, vice president of medical affairs for Sobi, about HLH, the significance of the Gamifant approval, and how it fits in with the company’s broader strategy.
Dec 27, 2018•17 min
Collaboration is critical to addressing problems faced by the rare disease community, but too often collaborations between advocacy organizations turn sour because of miscommunication, a lack of trust between partners, or when unnecessary competition trumps cooperation. A group of rare disease advocacy organizations, including Global Genes, earlier this year launched the THRIVE initiative (https://www.thriveforrare.org/), an effort to foster cooperation between rare disease groups and address th...
Dec 19, 2018•21 min
Prader-Willi syndrome is a rare genetic disease with many effects, but it is characterized by an insatiable drive to eat that leads to overeating and obesity. Soleno Therapeutics is in late-stage clinical testing of a treatment for the intense hunger and overeating in patients with Prader-Willi. We spoke to Anish Bhatnagar, CEO of Soleno, about its experimental therapy, how it works, and why it may have application in a broader range of indications.
Dec 12, 2018•17 min
The U.S. Food and Drug Administration recently granted gene therapy developer RegenxBio Orphan Drug designation for its experimental gene therapy to treat CLN2 disease, a form of Batten disease, a rare and deadly condition that progressively robs children of their abilities until they die. The gene therapy is one of 12 clinical programs and 20 partnered programs RegenxBio is advancing. We spoke to Ken Mills, CEO of RegenxBio, about CLN2 disease, the company’s next-generation gene therapy platfor...
Dec 05, 2018•24 min
LBSL, a rare genetic disorder that affects the brain and spinal cord, was first identified in 2004. While there are no treatments available today, researchers are working to understand the condition and develop therapies. One ongoing study at Kennedy Krieger Institute is using digital health technologies to remotely test people with the condition and provide a roadmap towards a therapy. We spoke to Ali Fatemi, director of the Moser Center for Leukodystrophies at the Kennedy Krieger Institute, ab...
Nov 28, 2018•26 min
Many rare disease organizations are resource constrained and depend on the kindness of volunteers to provide specialized services and capabilities that they may not have in-house. Sean Gordon, a high-tech sales and marketing specialist, discovered the need after he was diagnosed late in life with a rare disease. His solution has been to create the Rare Funding Team, a free service that matches rare disease organizations to volunteers. We spoke to Gordon about his own diagnosis, the work he does ...
Nov 21, 2018•21 min
When the Hereditary Neuropathy Foundation set up a patient focused drug development meeting with the FDA, it knew that patients with Charcot-Marie-Tooth disease face difficulty providing written comments because of the impact of the disease on their ability to write or type. Working with a technology company, the organization was able to gather patient feedback using voice technology that allowed them to report comments over the phone through an automated system. We spoke to Allison Moore, CEO o...
Nov 14, 2018•19 min
When Jon Miller’s son was born doctors failed to diagnose a rare and deadly medical condition despite using newborn screening that was supposed to detect it. Doctors told him his infant was going to die. His son was diagnosed correctly in time as having tyrosinemia, a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, the result of an enzyme deficiency. The experienced led Miller to create NOTA, the Network of Tyrosinemia Advocates. We spoke to Miller about his a...
Nov 07, 2018•24 min
Sickle cell disease is a rare, genetic condition that causes red blood cells to become misshapen and damaged. The condition activates immune cells and blocks blood flow in capillaries, causing injury to many organs and pain daily. Imara is developing an experimental therapy that can prevent the sickling of the red blood cells and also reduce the adhesion of white blood cells to reduce blockage of the blood vessels. We spoke to Rahul Ballal, CEO of Imara, about the therapy, the class of drugs it ...
Oct 31, 2018•22 min
When Sean Baumstark was 25, he was diagnosed with Friedreich’s ataxia, a rare, debilitating and life-shortening disease. His doctor advised him to avoid activities where balance was critical, such as biking, hiking, or running. He told Baumstark he should move to a home without stairs and install handrails. A month later Baumstark bought a bike and set off on a 650-mile trek from his home in Sacramento to Las Vegas. Among the many things he does today, his De:terminence program provides people w...
Oct 24, 2018•19 min
Despite accelerated pathways for the development and approval of rare disease therapies, significant challenges remain for companies wishing to bring new treatments to market. Mallory Factor, CEO of IntraBio, recently testified at a U.S. Senate Subcommittee hearing and argued that the programs in place today fail to address the needs companies like his have for timely and early interactions with the U.S. Food and Drug Administration when developing therapies for diseases afflicting small populat...
Oct 17, 2018•17 min
Two attorneys specializing in regulatory law recently proposed the creation of an FDA Rare Disease Center of Excellence to better allow the agency to address the challenges of advancing and reviewing rare disease products. The proposal, advanced by Hyman, Phelps & McNamara’s Director Frank Sasinowski and Associate James Valentine, also calls for the creation of deputy directors of rare disease at various FDA divisions and the creation of a rare disease advisory committee made up of external ...
Oct 10, 2018•21 min
This summer, elite runner Dave Proctor set out on a 4,500-mile run across Canada to break a Guinness World Record and raise $1 million to support the Rare Disease Foundation. Proctor’s son Sam has an ultra-rare neurological condition. Though an injury cut Proctor’s run short, it did ignite the imagination of the public and catch the attention of legislators. We spoke to Proctor about the run, the rare disease landscape in Canada, and what his plans are going forward for his organization Outrun R...
Oct 03, 2018•23 min
Collaborations play a critical role in advancing potential treatments for a rare disease and can take many forms. In some cases, they may involve a single researcher engaging with a single patient, while more complex ones may be multi-organizational alliances that include drug developers, academic institutions, and patient advocacy organizations. We spoke to Hans Schlecht, a physician who has conducted research and the father of a son with an ultra-rare disease, about the importance of collabora...
Sep 26, 2018•38 min
Seeking treatment for a rare disease can be complicated by the poor understanding clinicians may have of a given condition and variations in the way they diagnose, treat, and monitor a specific disease. One way to ensure patients receive the best care is through the implementation of clinical standards. We spoke to Kathi Kinnett, vice president of clinical care for Parent Project Muscular Dystrophy, about the process of establishing clinical standards for a rare disease, the role patients should...
Sep 19, 2018•26 min
A few years ago, Kavi Gandhi’s parents told him that they had become overwhelmed with the demands of running the foundation they had started to fund research for I-Cell disease, a condition that his older brother Yash died from at the age of 9. Kavi told his parents he didn’t want them to close the foundation and offered to take on some of the responsibilities of running it. Since them he has become a fierce advocate. He’s organized events, raised money, and maintained an active presence on soci...
Sep 12, 2018•20 min
People with rare and chronic conditions often become so focused on the treatment of their physical ailments that the psychological and emotional aspects of their diseases can be neglected. Allison Fine, a clinical social worker, founded the Center for Chronic Illness in Seattle to provide professionally-led support groups to people with ongoing health challenges. We spoke to Fine about her work, the psychological toll rare conditions can take, and how these patients can go about finding help the...
Sep 05, 2018•28 min
When Mary Beth Campbell’s son Calvin was diagnosed with Bloom Syndrome, a rare genetic disease that can lead to the development of cancer, she found a patient community that had mobilized in fits and starts. There had been efforts to create a patient registry and collect biosamples, but it was not consistently maintained. There was no natural history study of the disease, no animal model for it, no validated target for drug development, and no strong patient community. We spoke to Campbell about...
Aug 29, 2018•21 min
When Hillary Savoie was pregnant, an ultrasound concerned her doctors that her child might be born with a genetic disease. When her daughter Esmé was born, despite the health problems she faced, Savoie resisted having genetic testing performed. When her daughter was eventually tested, it did not provide clarity. Eventually four suspect genes were identified through various tests. Savoie, founder of The Cute Syndrome Foundation, has chronicled her experiences with Esmé in two short memoirs "Aroun...
Aug 22, 2018•26 min
