Retrotope Announces First Dosing of RT001 in patients with Infantile Neuroaxonal Dystrophy (INAD)

Two participating clinical trials centers now open for enrollment

Los Altos, California, UNITED STATES

LOS ALTOS, Calif., Dec. 13, 2018 (GLOBE NEWSWIRE) -- Retrotope announced today that it has begun enrollment of the first patients and has started dosing of infants with the ultra-rare neurodegenerative disease, Infantile Neuroaxonal Dystrophy (INAD). The U.S. Food and Drug Administration (FDA) has granted the company approval to conduct this trial as an open-label Phase 2/3 clinical trial in 15-20 patients. Due to the paucity of publicly available natural history of the progression of the disease, Retrotope is currently also enrolling a prospective natural history study in a matched group of INAD patients who are not participating in the trial. RT001 is the first-in-class of a new category of drugs called D-PUFAs (deuterated polyunsaturated fatty acids), which are designed to protect against free radical damage resulting in cell death that is a hallmark of numerous neurodegenerative diseases including INAD.

Retrotope previously enrolled two INAD patients in individual Expanded Access trials, the first patient of which has been on drug over 18 months. Encouraging results from these studies were presented at the recent annual meeting of the National Organization of Rare Diseases (NORD) meeting in Washington, DC RT001 has been granted U.S. FDA orphan drug designation for the treatment of PLA2G6 associated neurodegeneration (PLAN), which includes INAD.

“The Phase 2/3 clinical trial is an important milestone in the development pathway of RT001,” commented Robert Molinari, Ph.D., CEO of Retrotope. “Preclinical models suggested that RT001 could reduce high levels of lipid peroxidation induced cell death in PLA2G6 deficient Drosophila and human fibroblast models, and observational data in Expanded Access trials in several indications support possible slowing or halting of progression in neurodegenerative diseases. We hope this trial will clearly demonstrate the benefits of RT001 treatment in INAD.”

The first two trial sites, Atlantic Health’s Goryeb Children’s Hospital in Morristown, NJ, and the UCSF Benioff Children’s Hospital San Francisco are now evaluating and enrolling patients for the trial. The trial will enroll patients between the ages of 18 months and 10 years old with INAD who are not dependent on a ventilator for mechanical respiration (CPAP use acceptable). A companion natural history study has commenced. The primary endpoint of the study is to evaluate the effectiveness of treatment as measured via a quantitative scale of both Activities of Daily Living (ADLs) and deficits in vital functions affecting INAD children compared to natural history progression. Families living abroad are welcome to travel to the U.S. for participation. The family of an affected infant and participant in the trial has launched a multi-media fund raiser “Bisous for Leo” to help fund research and potential cures for INAD. This effort can be followed on Instagram@BisousForLeo where famous faces including Eva Longoria, Isla Fisher, Cehlsea Handler and Sebastiona Stan have all posted to help raise awareness of INAD.

Leena Panwala, President and Co-founder of INADcure (, noted, “INAD is a devastating disease for which there is currently no treatment. We are excited that RT001 is moving forward in formal clinical testing so that its effects can continue to be more thoroughly investigated.” The INADcure Foundation is a 501(c)(3) nonprofit charity whose mission is to support the development of treatments, including a cure, for Infantile Neuroaxonal Dystrophy (INAD) and other forms of PLA2G6-related neurodegeneration (PLAN). 

Peter G. Milner, MD, Retrotope’s Chief Medical Officer, commented, “To the best of our knowledge these trials will be the first interventional and prospective natural history clinical trials of classical INAD. We have now interviewed dozens of patients and their families with this devastating disease, and hope that our drug can positively affect the inexorable progression of disease they face.”

About INAD

INAD is an ultra-rare, devastating life-shortening neurodegenerative disorder that affects only a few hundred patients worldwide. It is caused by a genetic defect in the PLA2G6 housekeeping gene that removes damaged lipids from cell membranes, such that damaged lipids accumulate in membranes. Infants with INAD appear to develop normally until approximately 6 to 18 months of age, when they begin to experience progressive mental and psychomotor development declines as they lose developmental milestones. Later-stage disease typically involves a feeding tube and breathing via ventilator. Life-threatening complications typically develop by the end of the first decade.

About RT001

RT001 is a patented, first-in-class, orally available D-PUFA, a deuterated polyunsaturated fatty acid, that incorporates into mitochondrial and cellular membranes and stabilizes them. Retrotope and others have discovered that lipid peroxidation, the free-radical damage of polyunsaturated fats (PUFAs) in mitochondrial and cellular membranes, may be the primary source of cell death in several degenerative diseases, including Friedreich’s Ataxia (FA) and INAD. The presence of D-PUFAs (RT001) can help protect (“fireproof”) against this attack and potentially restore cellular health.

About Retrotope

Retrotope, a privately held, clinical-stage pharmaceutical company, is creating a new category of drugs to treat degenerative diseases. Composed of proprietary compounds that are chemically stabilized forms of essential nutrients, these compounds are being studied as disease-modifying therapies for many intractable diseases, such as Parkinson’s, Alzheimer’s, INAD, ALS, Friedreich's ataxia (FA), Late Onset Tay Sachs (LOTS), mitochondrial myopathies, and retinopathies. RT001, Retrotope’s first lead candidate, is being tested in INAD with plans for a pivotal trial in FA. For more information about Retrotope, please visit

SOURCE: Retrotope, Inc. 4300 El Camino Real, Suite 201 Los Altos, CA 94022