Lysosomal Storage Disorders News and Research

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Study provides insights into the molecular mechanism of Batten disease

Neuronal Ceroid Lipofuscinosis are a group of devastating neurodegenerative lysosomal storage disorders that begin in childhood. Mutations in CLN3 gene lead to a NCL called Batten disease, characterized by the progressive loss of vision, movement, and cognition.

6 Jul 2023

Researchers provide a framework for unifying and categorizing neurodegenerative diseases based on eight hallmarks

Researchers presented eight hallmarks of neurodegenerative diseases (NDDs), their in vivo biomarkers, and interactions to help categorize NDDs and specify patients within a specific NDD.

21 Feb 2023

Duke scientists join team involved in the first use of fetal therapy for Pompe disease

Experts at Duke Health were among a multi-national team involved in treating a fetus for infantile-onset Pompe disease using an enzyme replacement therapy - a first in the world.

9 Nov 2022

Scientists reverse the effects of lysosomal storage disorders in patient cells and mice

Scientists at the Icahn School of Medicine at Mount Sinai in New York, the National Center for Advancing Translational Sciences (NCATS), and elsewhere have reversed the effects of several life-threatening inherited neurodegenerative diseases called lysosomal storage disorders (LSDs) in patient cells and mice.

9 Sep 2022

Study reveals a new molecular perspective to the cause of Gaucher's disease

A study by researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and collaborating institutions is the first to associate neuronal activity to the levels of sphingolipids, a type of fat, in brain cells.

13 Jul 2022

A new combination therapy for treating rare, fatal Sanfilippo syndrome in children

A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death.

24 Feb 2021

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lyosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system.

3 Feb 2021

Gene therapy to the inner retina prevents blindness in mouse model of CLN3 Batten disease

Gene therapy to the inner retina prevented blindness in a mouse model of the neuro-degenerative disorder CLN3 Batten disease.

10 Aug 2020

Scientists discover why the cells need acidic lysosomes

Just like the body contains lungs, liver, and lymph nodes, so does each of the body's cells contain tiny specialized organs. Perhaps most peculiar among them are lysosomes--bubble-like sacks that act as part recycling bin, part stomach.

23 Jan 2020

New research suggests another possible mechanism for Alzheimer’s

Neurofibrillary plaques and tau protein are among the most widely known pathological entities characterizing Alzheimer’s disease (AD), but new research at the University of California, Riverside, has come up with another plausible explanation for this debilitating disorder.

13 Aug 2019

Rare inherited enzyme disorder offers new clues about fibrotic conditions

What can a family of rare inherited disorders teach scientists about more common health problems like fibrosis? Plenty, based on research led by St. Jude Children's Research Hospital scientists that appears today in the journal Science Advances.

17 Jul 2019

UVA researchers make unexpected discovery about irreplaceable nerve cells

Meticulous new research from the University of Virginia School of Medicine has changed a well-accepted scientific belief about neurons, the vital nerve cells that allow us to experience the world and record those experiences as memories in our brains.

22 Nov 2018

New therapeutic approach may delay neurodegeneration in rare genetic disease

A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB. Neurodegeneration in this condition results from the abnormal accumulation of essential cellular molecules called mucopolysaccharides.

21 Jun 2018

Researchers describe important step toward gene therapy for patients with Sandhoff disease

Babies with the rare, deadly genetic disorder Sandhoff disease begin to miss developmental milestones just months after birth. Lacking muscle tone, they never learn to sit up, develop heads too large to lift and eventually suffer uncontrollable seizures. There is no cure.

22 Feb 2018

Study points at lysosomal storage disorder genes as potential key contributors to Parkinson's

An international study has shed new light on the genetic factors associated with Parkinson's disease, pointing at a group of lysosomal storage disorder genes as potential major contributors to the onset and progression of this common neurodegenerative disorder. The study appears in the journal Brain.

14 Nov 2017

Shire and Parion Sciences to collaborate on P-321 for ophthalmic indications

Shire plc and Parion Sciences, Inc. have announced they have entered into an agreement granting Shire exclusive worldwide rights to develop and commercialize P-321. Shire will lead development of P-321, an investigational epithelial sodium channel (ENaC) inhibitor for the potential treatment of dry eye disease in adults, with the opportunity for Parion to co-fund.

3 May 2017

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and King's College London have discovered a treatment that improves the neurological symptoms in a mouse model of juvenile Batten disease.

6 Feb 2017

FDA grants permission to market new Seeker System for screening rare metabolic disorders in newborns

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns.

3 Feb 2017

URMC researchers identify potential new means of treating severe genetic diseases in children

University of Rochester Medical Center researchers believe they have identified a potential new means of treating some of the most severe genetic diseases of childhood, according to a study in PLOS Biology.

16 Dec 2016

Novel drug delivery system may offer new hope for patients with rare fatal genetic disorder

Researchers at Oregon State University and other institutions have discovered a type of drug delivery system that may offer new hope for patients with a rare, ultimately fatal genetic disorder - and make what might become a terrible choice a little easier.

30 Aug 2016