Batten Disease News

July 31, 2020August 3, 2020

URMC Hopes New IDDRC Research Designation Leads to Scientific Advances

Batten Disease News

The University of Rochester Medical Center (URMC) hopes to parlay its new designation as an Intellectual & Developmental Disabilities Research Center (IDDRC) into scientific advances for conditions such as autism ... Read more

July 24, 2020July 24, 2020

Role of CLN6 in Batten Discovered, Shedding Light on Disease

Batten Disease News

The proteins CLN6 and CLN8 — which are deficient in people with two forms of Batten disease — were found to interact directly with each other, forming a functional complex ... Read more

July 17, 2020July 17, 2020

Lymphocyte Vacuolization Might Be Used to Measure Batten Severity

Batten Disease News

The number of fluid-containing cellular compartments called vacuoles within immune cells could help to predict the severity of Batten disease, a new study suggests. The study, “Quantifying lymphocyte vacuolization serves ... Read more

July 10, 2020July 10, 2020

Neurogene’s Gene Therapy for CLN5 Named Orphan Drug by FDA

Batten Disease News

The U.S. Food and Drug Administration (FDA) has designated Neurogene’s gene therapy, which aims to deliver a working copy of the human CLN5 gene, an orphan drug to possibly treat CLN5, a ... Read more

June 26, 2020June 29, 2020

CLN2 Mouse Model Shows Small Vesicles May Help Deliver TPP1 to Brain

Batten Disease News

Small vesicles naturally produced by certain types of immune cells may be used as carriers to deliver TPP1 — the enzyme missing in patients with late infantile Batten disease — ... Read more

June 12, 2020June 12, 2020

Subtle Signs of Brain Atrophy Should Prompt Testing, Study Says

Batten Disease News

Signs of mild atrophy, or shrinkage, in certain areas of the brain, including the cerebellum — a region involved in balance and movement control — should prompt diagnostic tests for ... Read more

June 10, 2020July 11, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

Batten Disease News, COVID-19 News

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for ... Read more

June 5, 2020June 5, 2020

Pakistani Study Describes New Mutations That Cause CLN5 Disease

Batten Disease News

Two previously-unknown mutations in the CLN5 gene were reported to cause CLN5 disease, a form of late infantile Batten disease, in a new study. The study also represents the second-ever ... Read more

May 29, 2020June 29, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

Batten Disease News, COVID-19 News

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies ... Read more

May 25, 2020June 25, 2020

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Batten Disease News

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was ... Read more

May 22, 2020June 26, 2020

Study Examines Reduction in CLN6’s Ability to Prevent Protein Aggregation

Batten Disease News

A reduction in the ability of the CLN6 protein to prevent other proteins from clumping together and forming aggregates can account at least partially for the development of some forms ... Read more

May 21, 2020June 21, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

Batten Disease News, COVID-19 News

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, ... Read more

May 20, 2020June 20, 2020

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Batten Disease News, COVID-19 News

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The ... Read more

April 24, 2020April 24, 2020

Brineura Shows Promise Delaying Disease Progression in Children with CLN2, Review Suggests

Batten Disease News

Brineura (cerliponase alfa), the first and only approved treatment for CLN2 disease, or late infantile Batten disease, is effective in delaying motor and language decline in children with the disease, ... Read more

April 22, 2020April 22, 2020

Rare Disease Therapy Development: Finding a Way Forward

Batten Disease News

Gaining access to lifesaving or even life-altering treatments has never been easy for many rare disease patients — including those with Batten disease. But the landscape is changing. What felt ... Read more