Translational Research Success Stories

Promising Gene Therapy Treatment for SMA Attracts Industry Investment

AveXis, Inc. logo vector SMN transgene
Image source: AveXis, Inc.

NINDS has a long history of supporting the research and development of gene therapies for neurological disorders. This example illustrates how funding through a cooperative agreement program enabled the pre-clinical development of a gene therapy for patients suffering from Spinal Muscular Atrophy (SMA).  A study conducted at the Research Institute Nationwide Children’s Hospital, Ohio optimized an intrathecally delivered AAV9-SMN vector (AVXS-101) to express a fully functional SMN gene and increase a patient's production of SMN protein to adequate levels to reverse the course of disease. This NINDS funded study successfully concluded with an IND submission to the FDA. Subsequently, AveXis licensed AVXS-101 and initiated a first in human clinical trial NCT03381729. A BLA filing with the FDA for the intravenous formulated administration of AVXS-101 is expected in the second half of 2018 and approval and launch in the US is expected in 2019. More recently, Novartis announced an agreement to acquire AveXis for $8.7 billion (Novartis press release).

Therapies for Glioblastoma Advance to Clinical Trials

Among brain cancers, glioblastoma is the most common in adults, the most lethal, and the hardest to treat. The standard course of cancer treatment—remove the tumor by surgery, then kill the remaining cancer cells with radiation and/or chemotherapy—has proven to be minimally effective for GBM. One class of promising new treatments for glioblastoma employs a strategy known as oncolytic virotherapy, which consists of administering cancer-killing (oncolytic) genes into a patient by packaging the genes in otherwise harmless viruses (virotherapy). In May 2018, a NINDS Director’s Message highlighted four potential glioblastoma therapies using this approach. All four therapies were supported by the NINDS Division of Translational Research and have proceeded into clinical trials, offering optimism about the future of glioblastoma treatment.

Lift Labs

Lift Labs Stabilization Spoon

Lift Labs, a graduate of the NINDS SBIR Program, was bought by Google Life Sciences in September 2014. Lift Labs produces a compact and portable device with a spoon, soup spoon or fork attachment that detects tremors and uses tiny motors to stabilize the utensil. Stabilization allows Essential Tremor patients to more easily feed themselves—something most of us take for granted. Lift Labs used the Phase I SBIR award to perform feasibility testing on the device and a Phase II grant for further development. Lift Labs also took advantage of the NIH’s Commercialization Assistance Program, which helped the company navigate regulatory hurdles and accelerate the process of bringing their device to the marketplace. Read more about Lift Labs.

Massachusetts General Hospital (MGH)

Massachusetts General Hospital (MGH), a current participant of the NIH Blueprint Neurotherapeutics program, has entered into a partnership agreement with PTC Therapeutics for the treatment of rare genetic disorders resulting from pre-mRNA splicing defects. MGH has developed a platform technology that enables discovery and development of orally administered, proprietary small molecule drugs that modulate pre-mRNA splicing. Read the Press release. Read more on Massachusetts General Hospital.

Interview with Susan A. Slaugenhaupt, PhD, Professor of Neurology, Harvard Medical School
discussing familial dysautonomia project discussing BPN grant funding

Eolas Therapeutics

Eolas Therapeutics, a current participant of the NIH Blueprint Neurotherapeutics program, announced that it has entered a worldwide license and partnership agreement with AstraZeneca on the Eolas Orexin-1 Receptor Antagonist (EORA) program for smoking cessation and other indications. EORA blocks a downstream receptor, localized in the hypothalamus and acts directly on the motivational properties of addiction. Eolas is the first active NIH Blueprint Neurotherapeutics program to bridge the gap from concept to commercial licensing. Read the Press release. Read more on Eolas Therapeutics.

Interview with Paul Kenny, PhD, Director Experimental Therapeutics Institute,
Professor of Pharmacology and Systems Therapeutics, Mt. Sinai, NY

NeuroGenetic Pharmaceuticals

NeuroGenetic Pharmaceuticals, a current participant of the NINDS SBIR and Cooperative Agreement Programs, has received FDA approval of their Investigational New Drug (IND) application to begin clinical trials on its NGP 555 compound to treat and prevent Alzheimer’s disease (AD). NINDS SBIR grants funded preclinical toxicology and safety studies of NGP 555, which works to prevent the formation of amyloid plaques and hence prevent neuronal cell death and the dementia associated with Alzheimer’s. Read more about NeuroGenetic Pharmaceuticals.

New NIH Funded Memory Drug Moves into Phase II Clinical Study

Tetra Discovery Partners, supported by the NIH Blueprint Neurotherapeutics (BPN), program since the program's inception, reports positive results from Phase I studies and plans to initiate a Phase 2 trial in mid-2017. Tetra Discovery Partners raises new funds that will support the Phase 2 trial. The compound is a first in class phosphodiesterase 4D negative allosteric modulator. It inhibits an enzyme thought to interfere with long-term memory formation and is designed to treat memory loss in early-to-moderate Alzheimer’s disease patients. Read more about Tetra Discovery Partners. The compound is the first drug funded by the BPN to move into a Phase 1 Clinical Trial.

Great Lakes NeuroTechnologies

Kinesia One(TM) Wearable Sensor

Great Lakes NeuroTechnologies, a current participant of the NINDS SBIR and Cooperative Agreement Programs, has recently made their Kinesia technology for objective monitoring of Parkinson’s disease available in a web-based application (or “app”) platform. Kinesia ONE™ incorporates a sensor worn on the index finger and an app to continuously measure Parkinson’s symptoms such as tremor, bradykinesia (slowed movements), and dyskinesia (involuntary movements). The app uploads symptom measurement data to a cloud-based storage system and makes reports available to clinicians and researchers. Read more about Great Lakes NeuroTechnologies.


UCB, a current participant of the NINDS SBIR and Cooperative Agreement Programs, has recently received FDA approval for a supplemental new drug application for the antiepileptic drug lacosamide as a monotherapy for treating partial-onset seizures in epilepsy patients aged 17 years or older. Lacosamide, which was previously identified by the Anticonvulsant Screening Program (now ETSP), has already been approved by the FDA as adjunctive treatment for partial-onset seizures, meaning that adults with partial-onset seizures can be initiated on lacosamide monotherapy, and patients already on an anti-epileptic drug can be converted to lacosamide monotherapy. Read more about UCB.

Lin Bioscience and Columbia Technology

Lin Bioscience and Columbia Technology Ventures, currently participant in the NIH Blueprint Neurotherapeutics program, in 2017 Lin bioscience licensed the intellectual property portfolio and associated development program for a promising first-in-class oral medication intended to slow or halt the progression of "dry" Age-Related Macular Degeneration (AMD). The company expects to place LBS-008 into Phase 1 clinical trials in 2017. Read more about the success of Dr. Petrukhin’s Blueprint Neurotherapeutics project.