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Medindia » Health / Medical News » Pompe Disease News

Pompe Disease - Latest News and Research Updates

Health News Posted on August 17, 2022 -

Total News & Research Records - 78 / Page - 1 of 6

Medindia provides you with the latest news and research breakthroughs on Pompe Disease. Please find 78 such items on this topic. Download Pompe Disease News Widget at the bottom

Pompe Disease / Glycogen Storage Disease Type II / Acid Maltase Deficiency

Pompe disease or Glycogen Storage Disease is a rare genetic disease caused by the buildup of a sugar called glycogen in the body’s cells. It is caused by the deficiency or absence of the enzyme alpha-glucosidase.

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New Genetic Disease That Delays Brain Development in Children Discovered

New Genetic Disease That Delays Brain Development in Children Discovered

A novel genetic disease drives some kids’ brains to develop abnormally, resulting in delayed intellectual development. Most patients with the condition that is so new it doesn’t have a name yet, have severe learning difficulties affecting ...

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Mechanism Involved in Transmission of Genetic Disease from Mother to Child

Mechanism Involved in Transmission of Genetic Disease from Mother to Child

A new mechanism discovered by scientists helps explain how certain kinds of genetic disorders known as mitochondrial diseases are transmitted from mother to child. The study it reports could serve as the basis for novel strategies to ...

Pompe Disease Market to Reach New Heights by 2030

Pompe Disease Market to Reach New Heights by 2030

An upcoming influx of new therapies into the Pompe disease (PD) pipeline in the next decade is expected to provide a significant boost to the treatment market. Pompe disease is an inherited, and often fatal; disorder that can greatly damage the ...

Lethal Genetic Disease Might Be Efficiently Treated Using Gene Editing

Lethal Genetic Disease Might Be Efficiently Treated Using Gene Editing

Lysosomal storage disease can be corrected using prenatal editing in a preclinical model as per a proof-of-concept study at the Children’s Hospital of Philadelphia (CHOP), published in the journal Nature Communications. The lysosomal ...

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Enzyme Replacement Therapy Launched by Takeda in India

Enzyme Replacement Therapy Launched by Takeda in India

Global biopharmaceutical company Takeda announced the launch of the enzyme replacement therapy for ’lysosomal storage disorders’ (LSDs), in an attempt to expand its portfolio of rare disease therapies in India. "Under ’lysosomal storage ...

Overweight Teens More Likely to Develop Heart Muscle Disease in Adulthood

Overweight Teens More Likely to Develop Heart Muscle Disease in Adulthood

Being overweight in adolescence may increase the risk of developing heart muscle disease (cardiomyopathy) later during adulthood, reports a new study. The risk of developing cardiomyopathy, which often leads to heart failure, increased in adult ...

Manuka Honey Kills Drug-resistant Bacteria in Genetic Disease

Manuka Honey Kills Drug-resistant Bacteria in Genetic Disease

Manuka honey could act as an alternative to antibiotic to treat drug-resistant respiratory infections in a genetic disorder called Cystic Fibrosis (CF), according to Dr. Rowena Jenkins and Dr. Aled Roberts of Swansea University. Using lung ...

Heavy Teens may Face Higher Heart Muscle Disease Risk as Adults

Heavy Teens may Face Higher Heart Muscle Disease Risk as Adults

Being obese and overweight in adolescence may increase the risk of developing heart muscle disease later during adulthood, reports a new study. A large study of Swedish men found that those who were even mildly overweight around age 18 were ...

AI can Identify Risk of Genetic Disease Causing High Cholesterol

AI can Identify Risk of Genetic Disease Causing High Cholesterol

Highlights: New AI-based technology can detect patients with familial hypercholesterolemia – a genetic disease that causes high blood cholesterol The technology can accurately differentiate between different categories of patients with high ...

Phenylketonuria, the Genetic Disease Healed Using Genome Editing

Phenylketonuria, the Genetic Disease Healed Using Genome Editing

CRISPR/Cas9 system was found to show promising results to correct both mutated genes in the liver cells and thus heal the metabolic disorder phenylketonuria. Parents of newborns may be familiar with the metabolic disorder phenylketonuria: in ...

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New Gene Therapy Medication can Treat Muscle Disease in Children

New Gene Therapy Medication can Treat Muscle Disease in Children

Gene therapy medication, Spinraza can treat the most severe form of neuromuscular disease, spinal muscular atrophy (SMA) that is mostly seen in children from 6 to 18 months of age, finds a new study. The findings of the study are published in the ...

Scientists Identify Cause of AEC Syndrome, a Severe Genetic Disease

Scientists Identify Cause of AEC Syndrome, a Severe Genetic Disease

Goethe University Frankfurt scientists in collaboration with a research group from the University of Naples Federico II have now identified that AEC syndrome resembles diseases such as Alzheimer's, Parkinson's or ALS more closely than it does other ...

Genetic Mutation Linked To Muscle Disease - Myopathy

Genetic Mutation Linked To Muscle Disease - Myopathy

Myopathies are diseases that prevent muscle fibres from functioning properly, causing muscular weakness. At present, there is no single treatment for the disease, as it can develop via a number of different pathways. Pioneering research using ...

Many Patients Carry Rare Genetic Disease Risks

Many Patients Carry Rare Genetic Disease Risks

Whole genome sequencing reveals the complete DNA make-up of an organism, enabling us to better understand variations both within and between species. This in turn allows us to differentiate between organisms with a precision that other ...

Mechanism Behind Rare Genetic Disease in Babies Revealed

Mechanism Behind Rare Genetic Disease in Babies Revealed

A rare but severe genetic disease that affects babies, children, and adults is caused by gene mutations that destroy the function of a protein but the physiological function was little understood. In Hyaline Fibromatosis Syndrome (HFS) a glassy ...

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Extraordinary Measures to Tackle Pompe Disease Continue to be Taken by UF Researchers

Extraordinary Measures to Tackle Pompe Disease Continue to be Taken by UF Researchers

University of Florida researchers are hopeful that gene therapy will help patients in the late stages of Pompe disease breathe on their own.

Deadly Muscle Disease may Originate in the Nervous System

Deadly Muscle Disease may Originate in the Nervous System

A severe form of muscular dystrophy in children known as Pompe disease could originate in the brain and not muscles

Alglucosidase

Alglucosidase is an enzyme replacement therapy used for treating Pompe disease, a rare metabolic disorder that damages the muscles and nerves caused due to the accumulation of glycogen in the lysosome. This medication is a glycoprotein, ...

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