Updates

April 12, 2019April 12, 2019
Scientists Discover New Mutation in CLN3 Gene Associated with Juvenile Batten Disease

Scientists have discovered a new mutation in the CLN3 gene associated with Juvenile Batten disease. The study, “A novel in-frame mutation in CLN3 leads ... Read more
April 5, 2019April 5, 2019
Brineura Over 3 Years Seen to Delay Loss of Motor-Language Skills in CLN2 Children, Trial Data Shows

Three years of treatment with Brineura (cerliponase alfa) was seen to effectively and durably delay the progression of late infantile Batten disease, compared to its natural course, in ... Read more
March 29, 2019March 29, 2019
New Therapies Being Developed for Batten Disease at ‘Unprecedented’ Pace, Review Suggests

Substantial progress has been made by different academic and industry teams toward the development of effective therapies to treat Batten disease, a review study suggests. ... Read more
March 22, 2019March 22, 2019
Alpha-Synuclein Protein May Contribute Toward Batten Disease Progression

High levels of a protein associated with Parkinson’s disease, called alpha-synuclein, may contribute to the progression of late infantile Batten disease, according to a ... Read more
March 15, 2019March 14, 2019
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as ... Read more

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News

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 11, 2019March 11, 2019
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ...
News

Amicus Research and Gene Therapy Center To Focus on Batten, Other Diseases
March 8, 2019March 8, 2019
To advance its commitment to research aimed at improving the lives of those with ...
News

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 5, 2019March 5, 2019
Rare diseases affect about 30 million Americans — roughly the same number as those ...
News

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 25, 2019February 25, 2019
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ...
News

Vienna to Host RARE2019 Meeting on Rare Diseases
February 22, 2019February 20, 2019
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...
News

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 11, 2019February 11, 2019
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities ...

One-time Gene Therapy RGX-181 Wins FDA Rare Pediatric Disease Designation
February 8, 2019February 8, 2019
The U.S. Food and Drug Administration has granted rare pediatric disease designation to Regenxbio’s one-time gene therapy RGX-181 for the treatment of ...
ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration
February 6, 2019February 6, 2019
G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, ...
Mouse Model for CLN6 Disease Shows Sex-specific Differences in Behavior, Lifespan, Study Finds
February 1, 2019February 1, 2019
FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
January 30, 2019January 30, 2019
Mutated CLN3 Protein May Indirectly Promote Abnormal Signaling Cascades Involved in Juvenile Batten Disease, Study Finds
January 25, 2019January 25, 2019
CLN3 Disease Should be Considered When Diagnosing AVM, Researchers Say
January 18, 2019January 18, 2019

Both Rare and Classic Juvenile Batten Types Show Changes in Skeletal Muscle Cells, Study Finds
January 11, 2019January 11, 2019
The activation of a recycling pathway, a process called autophagy, which leads to large ...
Amicus Therapeutics Recruiting Children with CLN3 Batten Disease for Gene Therapy Trial
January 4, 2019January 4, 2019
Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 20, 2018December 20, 2018
New Mutations Linked to Infantile and Late-Infantile Batten Disease Identified in Study of Indian Patients
December 18, 2018December 18, 2018

CLN8 Deficiency Disrupts Cell-Signaling Pathways, Study Reports
December 4, 2018December 4, 2018
A type of Batten disease, called CLN8 disease, is associated with the failure of ...
Mutations in CLN8 Block the Transport of Lysosomal Enzymes, Leading to Batten Disease, Study Shows
November 27, 2018November 27, 2018
Regenxbio’s One-time Gene Therapy RGX-181 Wins FDA’s Orphan Drug Designation
November 20, 2018November 20, 2018

News

Abeona Acquires Rights to Develop Gene Therapies Using NAV AAV9 Gene Delivery System
November 13, 2018November 13, 2018
Abeona Therapeutics has acquired the global rights to REGENXBIO’s proprietary NAV AAV9 delivery system to develop ...
News

Canine Models of Batten Disease May Help to Develop New Therapeutic Approaches, Review Says
November 6, 2018November 6, 2018
Naturally occurring canine models of several types of neuronal ceroid lipofuscinoses (NCLs), also known as ...
News

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
October 30, 2018October 29, 2018
With the U.S. midterm elections now less than two weeks away, patient advocacy groups ...
News

CLN3 Deletion Affects Genes Responsible for Production of Type of Fat in Brain, Mouse Study Finds
October 30, 2018October 30, 2018
A genetic deletion in the CLN3 gene impairs the normal function of genes involved in the ...
News

Researchers Dissect Mechanisms Involved in CLN5 Release Using Amoeba Model
October 26, 2018October 26, 2018
Using a species of amoeba as a model organism, researchers have found chemical modifications ...
News

Researchers ID 8 Potential Biomarkers of Disease Severity in Late Infantile Batten Disease
October 23, 2018October 23, 2018
Researchers have identified eight potential biomarkers of disease severity, progression and treatment response in ...

July 20, 2017July 20, 2017

North Carolina’s Indo Jax Surf Charities Helps Kids With Batten Disease, Other Special Needs

News

A small North Carolina nonprofit organization, Indo Jax Surf Charities, has recently gained attention for its set of free programs to help children with Batten disease and other special needs build self-esteem. Since launching these programs, Indo Jax has been featured ... Read more

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