Author Archives: Iqra Mumal, PhD

The CLN3 gene may play a more crucial role than previously thought in the normal balance of cellular recycling processes and the degradation of important fatty molecules in nervous brain cells, a study suggests. The study titled, “Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies…

Exome sequencing, a technique that looks for gene mutations, is a valuable tool to diagnose pediatric neuronal ceroid lipofuscinoses, also known as Batten disease, according to a new case report. The study, “A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report,” was…

The U.S. Food and Drug Administration has accepted a new drug application (NDA) for UCB’s Nayzilam (midazolam) nasal spray for the acute treatment of seizures including seizure clusters and acute repetitive seizures. Acceptance of this NDA could result in Nayzilam’s approval in the U.S. in early 2019, potentially…

Substantial progress has been made in the development of gene therapies for Batten disease, according to a recent review, and researchers predict that targeted combination therapies will improve patients’ quality of life. The study supporting that contention, “Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal…

A family of enzymes called metallothioneins potentially could be new therapeutic agents in the treatment of lysosomal storage disorders (LSDs), including Batten disease, a mouse model shows. The study, “Metallothioneins are Neuroprotective Agents in Lysosomal Storage Disorders,” was published in the journal Annals of Neurology. LSDs, which…

A recent review highlights how autophagy, a process in the body that deals with the destruction of cells to maintain balance and normal functions, is impaired in patients with lysosomal storage disorders (LSDs) such as Batten disease, and could eventually be a therapeutic target for disease. The study,…

An analysis of the protein profile of the three major forms of neuronal ceroid lipofuscinoses (NCLs) has revealed potential biomarkers for the measurement of short-term response to treatment. The study, “Proteomic analysis of brain and cerebrospinal fluid from the three major forms of neuronal ceroid lipofuscinosis reveals potential biomarkers,”…

New research shows that patients with infantile Batten disease exhibit significant early disease in the spinal cord and that combined treatment of the spinal cord and the brain has significant therapeutic effects. The study titled, “Synergistic effects of treating the spinal cord and brain in CLN1 disease,” was published…

The fat-lowering therapy gemfribrozil decreased disability and increased the lifespan of mice with a form of Batten disease that strikes children, according to a preclinical-trial study. The finding suggests the high-cholesterol drug could be used to treat children with Batten, which scientists call Neuronal Ceroid Lipofuscinosis, or NCL. The research also indicated…

Compounds that inhibit the effects of enzymes linked to brain inflammation improve movement in mice with both early and advanced Batten disease, according to a study. The compounds are called PDE4 (3 phosphodiesterase‐4) inhibitors because they suppress PDE4 enzyme activity. University of Nebraska Medical Center researchers said their study was…