Retrotope Announces the Initiation of Expanded Access (Compassionate Use) Trials of RT001 in Two Neurodegenerative Disorders

Late Onset Tay Sachs and Neuroserpinosis single-patient trials mark the fourth and fifth trials of Retrotope’s drug candidate in an untreated neurological disease

Los Altos, California, UNITED STATES

LOS ALTOS, Calif., June 11, 2018 (GLOBE NEWSWIRE) -- Retrotope announced today the start of two single-patient, Compassionate Use trials of RT001 at major university medical centers in Late Onset Tay Sachs (LOTS) disease and Familial Encephalopathy with Neuroserpin Inclusion Bodies (FEIN or neuroserpinosis).  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 LOTS and FEIN.  

LOTS shares symptoms such as bulbar function losses, dysarthria, ataxia, and neuromuscular deficits with Friedreich’s ataxia (FA) and Infantile Neuroaxonal Dystrophy (INAD), two diseases in which RT001 is currently being tested in patients.  FEIN is characterized by mutations in the Serpini1 gene for brain neuroserpin, a brain development protein.  FEIN is marked by loss of concentration, personality changes, loss of memory, and seizures.  Recent positive Retrotope clinical results in INAD,, and FA,, were presented at the 2018 American Academy of Neurology meeting in Los Angeles, demonstrating disease-modifying therapeutic effects (arresting of progression with possible improvements) in these historically strictly progressive neurodegenerative diseases.  Retrotope is expanding its Compassionate Use programs to test RT001 in other rare untreated neurological diseases that have similar symptoms or etiology.

Peter G. Milner, M.D., Retrotope’s Chief Medical Officer, commented, “Early clinical results demonstrating the arrest or reversal of disease progression suggest that RT001 may have application in a number of diseases characterized by neuromuscular deficits.  Based on compelling safety and tolerability and promising clinical efficacy results to date, we are working closely with patient advocacy groups and physicians to support other single-patient or single-site Expanded Access trials, especially in neurodegeneration that exhibits bulbar (swallowing), speech, neuromuscular, and cognition deficits.” 

Robert J. Molinari, Ph.D., CEO and co-founder of Retrotope, stated, “RT001 now has patient-years of safety in infants and young adults, as well as early signals of efficacy in two different neurodegenerative diseases.  Expanding our trials based on this success to other related neurodegenerative diseases, initially in Expanded Access trials, allows us to investigate which diseases implicating lipid damage in cell death are most responsive to RT001 therapy.  We plan to evaluate drug effect and endpoints in these new studies, and characterize what we perceive as the broad therapeutic potential of D-PUFA drugs in neurodegeneration.”

About Late Onset Tay Sachs disease
Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) in the brain and nerve cells. This abnormal accumulation leads to progressive dysfunction of the central nervous system, and is categorized as a lysosomal storage disease.

Late-onset Tay-Sachs occurs variably in patients from their 20s to 60s, and progresses more slowly than the form of the disease in infants.  Initial symptoms associated with late-onset Tay-Sachs disease may include clumsiness, mood alterations, and progressive muscle weakness and wasting.  As affected individuals age, they may exhibit tremors, muscle twitching, seizures, slurred speech (dysarthria), an inability to coordinate voluntary movements (ataxia), difficulty swallowing (dysphagia), a condition known as dystonia, problems with walking, running, and other similar activities. In severe instances, affected individuals may eventually need assistive devices such as braces or a wheelchair. 

About FEIN
FEIN is an ultra-rare condition in which brain encephalopathy with neuroserpin inclusion bodies cause progressive dysfunction in the brain.  At first, affected individuals may have difficulty sustaining attention and concentrating. They may experience repetitive thoughts, speech, or movements. As the condition progresses, their personality changes and judgment, insight, and memory become impaired.  In severe cases, seizures and involuntary muscle twitching accompany progressive dementia.  Affected patients lose the ability to perform most activities of daily living and eventually may require comprehensive care.

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 considered as disease-modifying drug therapies for many intractable diseases, such as INAD, ALS, LOTS, FEIN, Huntington’s disease, mitochondrial myopathies, and rare retinopathies.  RT001, Retrotope’s first lead candidate, is being tested in placebo-controlled clinical trials for the treatment of Friedreich's ataxia, a fatal orphan disease, and in compassionate use studies for the fatal, neurodegenerative diseases such as INAD, Late Onset Tay Sachs, FEIN, and a genetic form of Alzheimer’s disease.  For more information about Retrotope, please visit

Retrotope Media Contact:
Justin Jackson, Burns McClellan
212-213-0006, ext. 327,

SOURCE: Retrotope, Inc. 4300 El Camino Real, Suite 201 Los Altos, CA 94022 650-575-7551