NIH Therapeutics for Rare and Neglected Diseases Program announces next round of drug development projects

NIH Therapeutics for Rare and Neglected Diseases Program announces next round of drug development projects

Cotard’s syndrome, referred to by some as Walking Corpse syndrome, causes the nihilistic delusion that you no longer exist, have lost your internal organs or are putrefying. In Europe it’s defined as a disease or condition affecting fewer than 5 in 10,000 of the general population. Initial infection involves both whole body and local symptoms. Congress created the TRND program to facilitate the development of new drugs for rare and neglected diseases. TRND bridges the wide gap in expertise and resources that often exists between basic research discoveries and the development and testing of new drugs in human subjects. As it develops new treatments, TRND also conducts research aimed at improving the drug development process. “Together with my colleague Thomas Linden, I’ve found almost ten examples of Cotard’s syndrome in patients treated with a herpes medicine called aciclovir,” said Anders Hellden, one of the doctors behind the discovery.

But the impact does not end there. The infection can reactivate at any time and a variety of events can trigger latent infection to become active. TRND began five pilot projects to establish the proof-of-principle and operating protocols for the program soon after it was established in 2009. Those projects include potential treatments for the neurodegenerative disease Niemann-Pick type C, the neuromuscular disorder hereditary inclusion body myopathy, the blood disorder sickle cell disease, a rare blood cancer known as chronic lymphocytic leukemia, and the parasitic worm diseases schistosomiasis and hookworm. The chronic lymphocytic leukemia and the sickle cell disease projects have recently received investigational new drug approval from the FDA and are in clinical trials. A year later, Belgian doctors treated an 88-year old man who came to the hospital because he “knew” he was dead and was upset about not having been buried. Dr Sancho-Shimizu’s current research focuses on understanding how individuals’ inherited genetic differences influence the likelihood of various childhood infections.

Fibrodysplasia ossificans progressiva is a rare inherited disorder where muscle and connective tissue such as tendons and ligaments are gradually replaced by bone. The compound under development has shown efficacy in a mouse disease model. Creatine transporter deficiency occurs from a mutation in a creatine transporter gene that prevents the transport of sufficient levels of creatine to the brain and results in cognitive function disorder. The lead compound has been evaluated in mice with creatine transporter deficiency and resulted in improved brain metabolism and cognitive function. External communication at GlaxoSmithKline. In preliminary studies, the candidate compound that will be advanced by this group shows anti-herpetic activity and can penetrate the central nervous system. This compound has received longstanding development support by National Institute of Allergy and Infectious Diseases, including funding of the current clinical trial that will collaborate closely with TRND.
NIH Therapeutics for Rare and Neglected Diseases Program announces next round of drug development projects

Schistosomiasis is a neglected tropical disease caused by parasitic Schistosoma worms that afflicts more than 200 million people worldwide. The disease can cause severe anemia, diarrhea, internal bleeding and/or organ damage. Neglected diseases are conditions that inflict severe health burdens on the world’s poorest people. This project aims to produce compounds that retain the positive anti-parasitic effects of the current treatment, praziquantel, which stuns and kills the worms while enabling lower and less frequent doses with potential for improved tolerability. This may allow broader access of a therapeutic to affected patients. Duchenne muscular dystrophy is an inherited, rapidly progressive form of muscular dystrophy affecting approximately 1 in 3,500 male births worldwide. This collaboration aims to develop a compound that would treat a sub-group of patients with a specific mutation responsible for Duchenne muscular dystrophy.

The team will also investigate the general utility of this innovative treatment platform technology. Pulmonary alveolar proteinosis is a rare lung disease characterized by the build-up of a grainy material in the air sacs of the lungs that causes breathing difficulties and can result in respiratory failure in rare cases. The protein therapeutic that is the subject of this collaboration will be developed as an inhaled therapy. TRND has established data-driven milestones for each project to track progress and allow projects which do not achieve milestones in the established timeframe to be terminated, thus allowing other promising candidates to enter the program. A project would be terminated, for example, if the new treatment fails to show effectiveness in animal models, demonstrates toxicity in preclinical testing, or is found not to have the needed bioavailability, the amount of drug absorbed by the body. “The goal of TRND is to work closely with project partners to achieve scientific milestones that we hope will produce badly needed treatments for underserved patient populations.” said NHGRI’s John McKew Ph.D., chief of NCTT’s Therapeutic Development Branch and director of TRND. Under TRND’s collaborative operational model, project partners do not receive grants.

Instead, the partners form joint project teams with TRND and receive in-kind support from TRND drug development scientists, laboratory and contract resources. The potential treatments are developed and modified as needed to take them through the many steps of the preclinical development process. For projects which fail to progress beyond a milestone and are terminated, efforts will be made to understand the reasons for failure, to improve our understanding of the drug development process and thus improve its efficiency. TRND projects are taken only to the point in development at which they can attract outside funding; beyond this point the partner takes the project through the remainder of clinical development and regulatory approval process. TRND projects are applied for via a solicitation process. The next solicitation will open in the spring of 2012. Updated information about solicitations and project information is available at

The National Institutes of Health (NIH) — “The Nation’s Medical Research Agency” — includes 27 Institutes and Centers and is a component of the U. S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, visit

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