Updates

February 11, 2019February 11, 2019
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions ... Read more
February 8, 2019February 8, 2019
One-time Gene Therapy RGX-181 Wins FDA Rare Pediatric Disease Designation

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 late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of ... Read more
February 6, 2019February 6, 2019
ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and E75.4 covers neuronal ceroid lipofuscinosis (NCLs) and so includes Batten ... Read more
February 1, 2019February 1, 2019
Mouse Model for CLN6 Disease Shows Sex-specific Differences in Behavior, Lifespan, Study Finds

A mouse model representing CLN6 disease, a subtype of Batten disease, shows that females have different symptoms and a shorter lifespan than males, a ... Read more
January 30, 2019January 30, 2019
FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— ... Read more

Subscribe to our mailing list

Get regular updates delivered to your email box.

Thanks! Please check your email for a confirmation email.

News

Mutated CLN3 Protein May Indirectly Promote Abnormal Signaling Cascades Involved in Juvenile Batten Disease, Study Finds
January 25, 2019January 25, 2019
Mutated forms of CLN3 protein may be involved in the abnormal activation of signals ...
News

CLN3 Disease Should be Considered When Diagnosing AVM, Researchers Say
January 18, 2019January 18, 2019
A team of Italian researchers suggests that CLN3 disease, also known as juvenile Batten ...
News

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 ...
News

Amicus Therapeutics Recruiting Children with CLN3 Batten Disease for Gene Therapy Trial
January 4, 2019January 4, 2019
Amicus Therapeutics is recruiting children for its new Phase 1/2 clinical trial that will ...
News

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 20, 2018December 20, 2018
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures ...
News

New Mutations Linked to Infantile and Late-Infantile Batten Disease Identified in Study of Indian Patients
December 18, 2018December 18, 2018
New mutations have been found in PPT1 and TPP1, the two genes associated with ...

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
Genetic mutations in the CLN8 gene block the transport of lysosomal enzymes to lysosomes, the cellular ...
Regenxbio’s One-time Gene Therapy RGX-181 Wins FDA’s Orphan Drug Designation
November 20, 2018November 20, 2018
Abeona Acquires Rights to Develop Gene Therapies Using NAV AAV9 Gene Delivery System
November 13, 2018November 13, 2018
Canine Models of Batten Disease May Help to Develop New Therapeutic Approaches, Review Says
November 6, 2018November 6, 2018
#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
October 30, 2018October 29, 2018

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 ...
Researchers Dissect Mechanisms Involved in CLN5 Release Using Amoeba Model
October 26, 2018October 26, 2018
Researchers ID 8 Potential Biomarkers of Disease Severity in Late Infantile Batten Disease
October 23, 2018October 23, 2018
Compounds Similar to Flupirtine Seem Promising for the Treatment of Batten Disease, Study Reports
October 16, 2018October 16, 2018

CLN3 Protein Involved in Maintaining Water Balance, Batten Disease Model Shows
October 12, 2018October 12, 2018
CLN3, the protein lacking in the juvenile form of Batten disease (CLN3 disease), is involved in maintaining ...
Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
October 9, 2018October 9, 2018
Researchers Explore Caspase-1 as Potential Therapeutic Target for CLN3 Disease
October 2, 2018October 2, 2018

News

Amicus Therapeutics’ Expanded Portfolio Includes Potential Gene Therapies for Batten Disease
September 28, 2018September 28, 2018
Amicus Therapeutics has gained global development and commercial rights to 10 gene therapy programs for lysosomal ...
News

Exome Sequencing is a Valuable Tool for Diagnosis of Pediatric Batten Disease
September 25, 2018September 25, 2018
Exome sequencing, a technique that looks for gene mutations, is a valuable tool to ...
News

Search for Biomarkers in CLN3 Mouse Model Fails to Yield Results, Study Reports
September 21, 2018September 21, 2018
An animal study using a mouse model of CLN3 disease, the juvenile form of ...
News

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington
September 21, 2018
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to ...
News

Researchers Use CT Scans to Monitor Long-term Brain Alterations in Sheep Models of Batten Disease
September 18, 2018September 18, 2018
New Zealand researchers used computed tomography (CT) to measure and monitor brain alterations in ...
News

LivaNova Launches Study to Assess VNS Therapy in Drug-resistant Epilepsy Patients
September 11, 2018September 11, 2018
A new system of vagus nerve stimulation (VNS) therapy was implanted in the first patient with ...

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

Subscribe to our mailing list

Pin It on Pinterest