Batten disease is an extremely rare and fatal autosomal recessi... - dofaq.com
wikipedia - 27 Sep 2017 Batten disease is an extremely rare and fatal autosomal recessi...
Batten disease is an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).
Batten Disease News - 04 Jan 2019 Amicus Therapeutics Recruiting Children with CLN3 Batten Disease for Gene Therapy Trial
Amicus Therapeutics has started a Phase 1/2 trial to assess the safety and efficacy of a potential gene therapy for children with CLN3 Batten disease.
Seeking Alpha - 03 Jan 2019 Amicus launches Phase 1/2 study of gene therapy for Batten disease; shares up 4%
Amicus Therapeutics (FOLD +4.3%) initiates a Phase 1/2 clinical trial evaluating gene therapy candidate AAV9-CLN3 in children with CLN3 Batten disease, ...
CBS News - 27 Dec 2018 Teen on a mission to raise money for sister's disease
Garland Benson is a little man on a big mission. "We're trying to raise $6 million in 24 months," he said. The 14-year-old from Austin, Texas, is trying to help save ...
KEYE TV CBS Austin - 28 Dec 2018 Beyond Batten Disease: A brother's love and mission to find a cure
One brother's mission to help his sister could provide a medical breakthrough to people around the world. Garland Benson from the Beyond Batten Disease ...
Times of India - 02 Jan 2019 India-specific genes behind Batten disease, finds Ahmedabad researcher
AHMEDABAD: A city-based genetics researcher has found 12 unique variants of genes responsible for the neuronal ceroid lipofuscinoses (NCLs) — also kno.
Crypto News Today - 24 Jan 2019 Batten Disease Treatment Market Size, Share, Development by 2023
New report published by Market Research Report Store (MRRS) which offers insights on the global Batten Disease Treatment market. Batten disease is ...
Batten Disease News - 18 Dec 2018 New Mutations Linked to Infantile and Late-Infantile Batten Disease Identified in Study of Indian Patients
A study describes finding a total of 12 new mutations in the PPT1 and TPP1 genes associated with NCL1 and NCL2 in a group of unrelated patients in India.
Batten Disease News - 18 Jun 2018 Batten Disease Screening
Screening to confirm a suspected diagnosis of Batten disease is best done through genetic testing, especially since early symptoms can be subtle.
Batten Disease News - 28 Jun 2018 Juvenile Batten Disease
Juvenile Batten disease is a rare, inherited neurodegenerative disorder. It is the most common of the five types of Batten disease, also known as neuronal ceroid ...
Fox News - 15 Oct 2018 Twins with rare Batten disease defy odds to reach teens
Twin brothers with an extremely rare genetic disorder which experts said would limit their life expectancy have defied the odds to reach their teens.
Batten Disease News - 28 Jun 2018 Late Infantile Batten Disease
Late infantile Batten disease is a genetic disease of children ages 2 to 4, and marked by seizures and the loss of motor skills and cognitive ability.
Batten Disease News - 06 Nov 2018 Canine Models of Batten Disease May Help to Develop New Therapeutic Approaches, Review Says
Canine models of several types of neuronal ceroid lipofuscinoses may help the development of new therapies to treat the disorders, a review study says.
Batten Disease News - 28 Jun 2018 Congenital Batten Disease
Congenital Batten disease, sometimes referred to as CLN10 disease, is an extremely rare type of Batten disease where symptoms develop from birth.
Batten Disease News - 09 Jul 2018 Infantile Batten Disease
Infantile Batten disease is a severe subtype of Batten disease, a progressive and inherited disorder of nervous system that's also known as neuronal ceroid ...
Batten Disease News - 08 Jun 2018 Living with Batten Disease
Living with Batten disease is challenging, as treatments are primarily palliative; this page spotlights various treatments used to ease symptoms and groups that ...
Baylor College of Medicine News - 05 Nov 2018 Researchers solve mystery surrounding form of Batten disease
A team led by researchers at Baylor College of Medicine has uncovered an unexpected mechanism that can explain a form of Batten disease called neuronal ...
Batten Disease News - 14 Aug 2018 Motor Events in Juvenile Batten Disease Like Those Seen in Brain Injuries, Study Suggests
A new study suggests that involuntary motor activity, normally seen in people who had traumatic brain injuries, also happens in juvenile batten disease.
Batten Disease News - 19 Jul 2018 Batten Disease Prognosis
Learn more about the prognosis for Batten disease patients, which depends largely on the age at onset of the symptoms.
Rare Disease Report - 07 Nov 2018 New, Fundamental Biological Process Identified in Batten Disease
A new, fundamental biological process in CLN8 disease, a form of Batten disease, has been discovered by a team of investigators from Baylor College of ...
Batten Disease News - 14 Aug 2018 Seizure Triggers and Batten Disease
Seizure triggers for those with Batten disease include tiredness, stress, and some foods and drinks. Keeping a seizure log can help identify triggers.
Batten Disease News - 08 Jun 2018 Batten Disease Treatment
Although there is no cure for Batten disease yet, several treatments are available and being developed to improve some of the symptoms.
Batten Disease News - 31 May 2018 Batten Disease Symptoms
Symptoms of Batten disease, a severe genetic nervous system disorder, usually begin between ages 5 and 10 and range from loss of vision and motor skills to ...
Batten Disease News - 28 Jun 2018 Adult Batten Disease
Adult Batten disease is a very rare Batten subtype, milder than childhood forms, with symptoms that usually appear when patients reach their 30s.
Batten Disease News - 09 Jul 2018 Batten Disease and Sleep
Up to 96 percent of patients with Batten disease experience some type of sleep disorder, such as waking in the middle of the night and nightmares.
PLoS Blogs - 16 Aug 2018 New Book, "Run to the Light," Chronicles a Journey with Batten Disease | DNA Science Blog
On Sunday, August 19, Taylor King will turn 20. On November 1, Laura King Edwards's inspiring book “Run To The Light” will be published, by Bedazzled Ink.
Batten Disease News - 08 Jun 2018 Batten Disease Diagnosis
A number of approaches, from tissue biopsies to gene testing, are used to diagnose Batten disease, but because this disease's symptoms can mimic others, ...
Nasdaq - 18 Jan 2019 Amicus Therapeutics Announces Presentations and Posters at 15th Annual WORLDSymposium™ 2019
CRANBURY, N.J., Jan. 18, 2019-- Amicus Therapeutics, a global biotechnology company focused on discovering, developing and delivering novel.
Batten Disease News - 08 Jun 2018 What is Batten Disease?
Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a group of rare inherited neurological conditions that can cause vision loss, progressive ...
Science Magazine - 19 Oct 2018 A tailormade drug developed in record time may save girl from fatal brain disease
DNA-based therapy for Batten disease shows promise of personalized medicine.
Batten Disease News - 25 May 2018 Clinical Evolution of Batten Disease in Young Adult Siblings Described in Case Report
Long-term follow-up of two siblings with Batten disease unveiled symptoms of slowly progressive motor deterioration, persistent photosensitivity, and seizures ...
Batten Disease News - 16 Oct 2018 Compounds Similar to Flupirtine Seem Promising for the Treatment of Batten Disease, Study Reports
Read about the results of a new study showing that compounds similar to flupirtine seem to be promising candidates for the treatment of Batten disease.
Batten Disease News - 09 Jul 2018 Batten Disease and Vision
Partial or complete loss of vision often develops in patients with childhood forms of Batten disease, while it is often preserved in the adult-onset type.
Batten Disease News - 29 Jun 2018 Fruit Fly Research Examines Two Genes Involved in Batten Disease
The expression of two proteins associated with Batten disease had a restricted expression in the central nervous system of a fruit fly model.
Batten Disease News - 25 Sep 2018 Exome Sequencing is a Valuable Tool for Diagnosis of Pediatric Batten Disease
Read about how exome sequencing, a technique that looks for gene mutations, is a valuable tool for diagnosis of pediatric neuronal ceroid lipofuscinoses.
Batten Disease News - 31 Aug 2018 Batten Disease Biomarker Research Influenced by Husbandry Conditions Among Mice, Study Finds
Read how husbandry conditions of mouse models of CLN3-Batten disease may influence research outcomes, such as potential disease biomarkers.
KETV Omaha - 15 Sep 2018 Battin' for Batten, funding a cure for Juvenile Batten's Disease
On Saturday, Battin' for Batten was held to raise money to save a very special boy.
Batten Disease News - 12 Jun 2018 Gene Therapy
Learn more about how gene therapy is being studied as a therapeutic approach for several genetic conditions, including Batten disease.
Batten Disease News - 12 Oct 2018 CLN3 Protein Involved in Maintaining Water Balance, Batten Disease Model Shows
CLN3, the protein lacking in the juvenile form of Batten disease, is involved in maintaining water balance, key for cell survival and growth, a study finds.
Batten Disease News - 24 Jul 2018 ‘Behind These Hands,’ a Novel-in-Verse, Illustrates Affects of Batten Disease Diagnosis
Award-winning novelist Linda Vigen Phillips' releases young adult novel, "Behind These Hands," about the life of a teenager devastated by Batten disease.
Batten Disease News - 08 Jun 2018 Batten Disease Causes
More than 400 mutations in 14 genes are currently known to cause Batten disease, the name given a group of severe neurological conditions marked by ...
Batten Disease News - 11 May 2018 Study Examines Promising Advances in Gene Therapies to Treat Batten Disease
Substantial progress has been made in the development of gene therapies for Batten disease, according to a recent review.
Batten Disease News - 28 Jun 2018 Blood Tests
Blood tests are a low-cost, quick and reliable way to diagnose Batten disease, by looking for abnormal vacuoles within cells or through a genetic test.
LWW Journals - 23 Jan 2019 The Neurology News That Mattered: Neurology Today: Editorial... : Neurology Today
What made a difference this past year in neurology — in the clinic, at the bench, and in the pipeline for new drugs? What were some of the important ...
Batten Disease News - 19 Jul 2018 Enzyme Replacement Therapy
Enzyme replacement therapy works to treat Batten disease by replacing a patient's missing or deficient enzyme with a functional one.
Batten Disease News - 09 Jul 2018 Tests of Brain Changes
Imaging and other tests can measure the degree of brain atrophy and seizure activity in Batten disease, helping to establish diagnosis and progression.
Batten Disease News - 15 Jun 2018 New Mouse Model of Late Infantile Batten Disease May Help Assess Potential Therapies
A new mouse model of late infantile Batten disease may help to efficiently investigate potential personalized therapies, study suggests.
Batten Disease News - 09 Jul 2018 Anxiety and Depression
Learn more about why patients with Batten disease sometimes develop mood changes that result in anxiety and depression.
Batten Disease News - 03 Jul 2018 Scientists Find Previously Unknown Role for Protein Linked to Juvenile Batten Disease
Researchers have identified a previously unknown function for the CLN3 protein, whose defective form underlies juvenile Batten disease.
Batten Disease News - 11 Jul 2018 Types of Seizures
Seizures are common to all types of Batten disease, and can be divided into three groups: generalized seizures, partial seizures, and status epilepticus.
Batten Disease News - 10 Jul 2018 Common Disease Mechanisms Found Between Type of Batten Disease and Form of Adult Dementia
Researchers have found common disease mechanisms between a type of Batten disease and a form of adult neurodegenerative disease (frontotemporal ...
Batten Disease News - 12 Jun 2018 First Batten Disease Awareness Day a Milestone to Unite Global Community, Increase Knowledge
The inaugural International Batten Disease Awareness Day was launched on June 9 under the theme “Come Together.” It became a milestone to increase the ...
Batten Disease News - 31 Jul 2018 Discovery of Natural CLN7 Model in Type of Monkey May Help Advance Understanding of Disease
Researchers have found a natural model of CLN7 disease, a rare form of Batten disease, in a type of monkey called a macaque, which may prove valuable in ...
Batten Disease News - 12 Jun 2018 Physiotherapy and Occupational Therapy
Learn more about how physiotherapy and occupational therapy can help ease symptoms and improve the quality of life of Batten disease patients.
Batten Disease News - 03 Aug 2018 Experts Create New Guidelines for Optimal CLN2 Disease Management
A group of experts has created a set of guidelines to best manage late infantile Batten disease, also known as CLN2. Guidelines previously had been lacking.
Batten Disease News - 04 Aug 2018 Status Epilepticus
Batten disease patients who have seizures more than five minutes long or numerous seizures, one after another, are probably experiencing status epilepticus.
Batten Disease News - 06 Jul 2018 Progress in Gene and Cell Therapies Reason for Hope Among Batten Patients, Review Study Says
Investigational therapies now in development — especially gene and cell therapies — are reason for *fresh* hope among Batten disease patients and their ...
Rare Disease Report - 16 Nov 2018 Orphan Drug Designation Granted to CLN2 Form of Batten Disease, RGX-181
Here's a round-up of recent designations granted by the FDA to products developed to treat rare diseases.
Batten Disease News - 09 Oct 2018 Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
Read about the rising price of therapies for rare diseases, and what patient advocacy groups, doctors and pharmaceutical executives are saying about them.
Batten Disease News - 13 Nov 2018 Abeona Acquires Rights to Develop Gene Therapies Using NAV AAV9 Gene Delivery System
Abeona has acquired worldwide rights to develop new gene therapies for Batten disease, Sanfilippo syndrome using REGENXBIO's NAV AAV9 gene delivery ...
Batten Disease News - 02 Oct 2018 Researchers Explore Caspase-1 as Potential Therapeutic Target for CLN3 Disease
Caspase-1 – an enzyme involved in several cellular processes including inflammatory responses – is a potential therapeutic target of CLN3 disease.
Batten Disease News - 09 Jul 2018 Eye Tests
Batten disease is a progressive neurodegenerative disorder. Symptoms, which can begin at a very young age, include progressive vision loss. The disease is ...
Batten Disease News - 09 Aug 2018 Rescue Medications
Rescue medications for Batten disease are fast-acting preparations of anticonvulsant therapies applied to control or end a seizure.
Batten Disease News - 07 Aug 2018 Healx Raises $10M to Speed Therapy Discovery for Batten, Other Rare Diseases
Read about Healx raising $10 million to accelerate therapy discovery for Batten and other rare diseases. Artificial intelligence is used in this effort.
ABC News - 07 Jul 2018 Life-changing Batten disease drug gives hope to children affected by fatal illness
Five-year-old Tom Strahan shouldn't be able to talk or walk, but he can thanks to a trip to Rome and a life-changing new treatment.
Batten Disease News - 23 Oct 2018 Researchers ID 8 Potential Biomarkers of Disease Severity in Late Infantile Batten Disease
Researchers have identified eight potential biomarkers of disease severity and treatment response in people with late infantile Batten disease.
Batten Disease News - 10 Jul 2018 Batten Disease and Education
Schooling is greatly affected by Batten disease and its symptoms — sight and speech problems, epilepsy, and cognitive decline — and planning is necessary.
Batten Disease News - 22 Jun 2018 Newborn Screening Test Shows Promise for Detecting Late Infantile Batten Disease, Study Shows
Researchers developed a newborn screening test using dried blood spots to diagnose late infantile Batten disease and six other lysosomal storage disorders.
Batten Disease News - 05 Jun 2018 Study Provides More Insight into Early Signs, Progression of CLN5 Disease
In children with CLN5, cognitive difficulties are early clinical signs, and severe mutations are associated with a more rapid decline of neurological function, ...
Batten Disease News - 09 Jul 2018 Speech Therapy
Learn more about how speech therapy can be useful in developing and maintaining skills and quality of life of children with Batten disease.
Batten Disease News - 11 Jun 2018 ABO-202
Abeona's ABO-202 is an investigative, one-time gene therapy for a type of Batten disease called CLN1, or rare infantile neuronal ceroid lipofuscinosis.
Batten Disease News - 09 Jul 2018 Adaptations and Equipment
Learn ways caregivers for Batten disease patients can use special equipment and make adaptations in everyday activities to help manage their condition.
Batten Disease News - 20 Nov 2018 Regenxbio’s One-time Gene Therapy RGX-181 Wins FDA’s Orphan Drug Designation
The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Regenxbio's one-time gene therapy RGX-181 for the treatment of late-infantile ...
Batten Disease News - 15 May 2018 Lack of Progranulin Protein Sheds Light on Molecular Features of Batten Disease, Study Shows
A study found that a deficiency of the progranulin protein leads to abnormalities in lysosomal function and may explain some molecular processes in Batten ...
Batten Disease News - 08 May 2018 More Reliable Tools Needed to Research CLN3 Protein in Batten Disease, Study Shows
Some Batten disease research into the CLN3 protein may have been compromised by unreliable antibodies that lack specificity, according to researchers who ...
FOX 7 Austin - 12 Dec 2018 Text 'Hero' to 501501 to make donation to fight Batten Disease
Batten disease is a rare and fatal disorder that attacks the nervous systems. Garland Benson talks about fundraising efforts for a clinical trial and has more on ...
PR Newswire - 30 Aug 2018 REGENXBIO Announces Pipeline Expansion with RGX-181 Gene Therapy for CLN2 Form of Batten Disease
ROCKVILLE, Md., Aug. 30, 2018 /PRNewswire/ -- REGENXBIO Inc. (Nasdaq: RGNX), a leading clinical-stage biotechnology company seeking to improve lives ...
OPB News - 06 Aug 2018 Discovery Of Batten Disease In Monkeys Could Lead To Therapies For Humans
Scientists at Oregon's National Primate Research Center recently found some of their Japanese macaque monkeys had developed Batten disease.
Batten Disease News - 28 Sep 2018 Amicus Therapeutics’ Expanded Portfolio Includes Potential Gene Therapies for Batten Disease
Read more about the novel gene therapies focused on the treatment of Batten disease and other lysosomal storage disorders that Amicus Therapeutics ...
STAT - 22 Oct 2018 Saving Mila: How doctors raced to stop a young girl's rare disease
Mila made it from diagnosis to bespoke therapy in the span of a year — and her case serves as a proof-of-concept on the power of rapid precision medicine.
Batten Disease News - 09 Jul 2018 Tissue Biopsy
A diagnosis of Batten disease sometimes includes a tissue biopsy, such as a skin biopsy, which is examined under a microscope for known abnormalities.
Batten Disease News - 27 Nov 2018 Mutations in CLN8 Block the Transport of Lysosomal Enzymes, Leading to Batten Disease, Study Shows
Read about a new study showing that mutations in the CLN8 gene block the transport of lysosomal enzymes to lysosomes, leading to Batten disease.
Batten Disease News - 09 Jul 2018 Tube Feeding
In patients with Batten disease who are at risk of malnutrition and dehydration, nutritional supports such as a feeding tube can help.
Rare Disease Report - 11 Jul 2018 Brineura Brings Hope as Batten Patients Await Additional Therapies
The FDA's approval of Brineura in April 2017 was a landmark moment for patients with the CLN2 form of the disease, but those with the other 13 forms of Batten ...
Batten Disease News - 09 Jul 2018 Enzyme Assays
Enzyme assays are tests that can be used to diagnosis some types of Batten disease, including infantile and late infantile Batten disease.
Batten Disease News - 18 Jun 2018 Small Molecule Therapy
Learn more about research into small molecule therapy as a possible non-invasive treatment for Batten disease.
Batten Disease News - 18 Sep 2018 Researchers Use CT Scans to Monitor Long-term Brain Alterations in Sheep Models of Batten Disease
New Zealand researchers used computed tomography (CT) to measure and monitor brain alterations in sheep models of Batten disease, a study reports.
The Moveefy - 23 Jan 2019 Comparison of BioMarin Pharmaceutical Inc. (BMRN) and Abeona Therapeutics Inc. (NASDAQ:ABEO).
As Biotechnology companies, BioMarin Pharmaceutical Inc. (NASDAQ:BMRN) and Abeona Therapeutics Inc. (NASDAQ:ABEO) are our subject to contrast.
Batten Disease News - 12 Jun 2018 Lysosomal Treatments
Lysosomal modulators are new experimental therapies that aim to correct malfunctioning lysosomes in Batten disease and other lysosomal storage disorders.
Batten Disease News - 03 Apr 2018 Key Beyond Batten Disease Foundation Fund-raiser Brings in $70,000 in February
A 24-month campaign to raise $6 million toward curing juvenile Batten disease got a $70,000 pop in February, the Beyond Batten Disease Foundation ...
Batten Disease News - 18 Jun 2018 RNA Treatments
Learn more about how scientists are hoping to use RNA modulators to help treat Batten disease.
Batten Disease News - 28 Jun 2018 Genetic Counseling
Genetic counseling is a *service* that offers information and guidance to people who have, or are at risk of having, a genetic condition like Batten disease.
Batten Disease News - 04 Sep 2018 Regenxbio Moves Toward Human Clinical Trial for Investigational Gene Therapy RGX-181
Read about how Regenxbio is developing a novel, one-time gene therapy, called RGX-181, for the treatment of late-infantile Batten disease.
PR Newswire - 09 Jun 2018 Global Batten Community Unites To Launch Inaugural International Batten Disease (NCL) Awareness Day
COLUMBUS, Ohio, June 9, 2018 /PRNewswire/ -- Today marks the inaugural International Batten Disease Awareness Day. Themed "Come Together," this ...
Columbus Business First - 21 Sep 2018 Nationwide Children's gene therapy spinoff acquired for $100M
Celenex, a Nationwide Children's Hospital gene therpay spinoff, has been acquired for $100 million by Amicus Therapeutics Inc., with the possibility of more ...
Batten Disease News - 21 Aug 2018 Onfi (Clobazam)
Onfi (clobazam) is a type of anticonvulsant marketed by Lundbeck that may be prescribed off-label to treat seizures in Batten disease patients.
Batten Disease News - 06 Apr 2018 Loss of CLN7 Protein Contributes to Development, Progression of Batten Disease, Mouse Study Finds
Loss of a protein called CLN7 causes levels of multiple soluble lysosomal proteins to drop, contributing to the development and progression of Batten disease, ...
Batten Disease News - 14 Aug 2018 Partial Seizures
Partial seizures usually are the first type to develop in patients with Batten disease. Read on to learn more about the various types of partial seizures.
Batten Disease News - 19 Aug 2018 Seizure Warning Signs
Learn more about the warning signs that accompany seizures, which are seen in patients with Batten disease, and how to manage those warning signs.
Batten Disease News - 22 May 2018 Protein in Specific Cells Involved in Batten Disease Neurodegeneration, Mouse Study Suggests
Therapeutic approaches that target production of a protein called progranulin in specific brain cells may help preserve brain integrity in Batten disease, ...
Batten Disease News - 19 Jun 2018 Researchers Identify 5 New Mutations Linked to Form of Batten Disease
Researchers have identified five new mutations in the CLN8 gene, the genetic factor behind CLN8 disease, one of the forms of Batten disease.