Updates

May 24, 2019May 24, 2019
FDA Clears ABO-202 Gene Therapy Candidate for Clinical Trials in Infantile Batten Disease

The U.S. Food and Drug Administration (FDA) accepted Abeona Therapeutics’ investigational new drug application for its one-time gene therapy candidate ABO-202 for children with ... Read more
May 15, 2019May 15, 2019
Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose ... Read more
May 10, 2019May 10, 2019
CLN3 Deficiency Leads to Abnormalities in Cellular Recycling Process, Study Shows

The CLN3 gene may play a more crucial role than previously thought in the normal balance of cellular recycling processes and the degradation of ... Read more
May 3, 2019May 3, 2019
Loss of TPP1 Linked to Brain Inflammation and Nerve Cells’ Dysfunction, Mouse Study Says

Loss of the Tpp1 gene is associated with brain inflammation and nerve cell dysfunction, possibly due to oxidative stress — the cellular damage that occurs as a ... Read more
April 26, 2019April 26, 2019
Patients Showing Signs of LINCL Should be Tested for CLN5, CLN8 Mutations, Study Says

Patients experiencing typical symptoms of late-infantile neuronal ceroid lipofuscinoses (LINCL) should be tested for the presence of genetic defects in CLN5 and CLN8, a study says. ... Read more

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News

Nonprofit Works to Raise Rare Disease Awareness in India, Connect with U.S. Groups
April 25, 2019April 25, 2019
With an estimated 1.37 billion inhabitants, India will likely surpass China in five years ...
News

Scientists Discover New Mutation in CLN3 Gene Associated with Juvenile Batten Disease
April 12, 2019April 12, 2019
Scientists have discovered a new mutation in the CLN3 gene associated with Juvenile Batten ...
News

Brineura Over 3 Years Seen to Delay Loss of Motor-Language Skills in CLN2 Children, Trial Data Shows
April 5, 2019April 5, 2019
Three years of treatment with Brineura (cerliponase alfa) was seen to effectively and durably delay the progression ...
News

New Therapies Being Developed for Batten Disease at ‘Unprecedented’ Pace, Review Suggests
March 29, 2019March 29, 2019
Substantial progress has been made by different academic and industry teams toward the development of ...
News

Alpha-Synuclein Protein May Contribute Toward Batten Disease Progression
March 22, 2019March 22, 2019
High levels of a protein associated with Parkinson’s disease, called alpha-synuclein, may contribute to ...
News

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
March 15, 2019March 14, 2019
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will ...

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 ...
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 ...
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 5, 2019March 5, 2019
WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 25, 2019February 25, 2019
Vienna to Host RARE2019 Meeting on Rare Diseases
February 22, 2019February 20, 2019
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 11, 2019February 11, 2019

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
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
Mutated forms of CLN3 protein may be involved in the abnormal activation of signals ...
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

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 ...
News

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 ...
News

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 ...
News

Regenxbio’s One-time Gene Therapy RGX-181 Wins FDA’s Orphan Drug Designation
November 20, 2018November 20, 2018
The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Regenxbio’s one-time gene therapy RGX-181 for ...

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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