May 22, 2018May 22, 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 function in Batten ... Read more
May 18, 2018May 18, 2018
New Mutation Found in Newborn with Congenital Neuronal Ceroid Lipofuscinosis, Case Study Reports

A new mutation was identified in a baby girl with congenital neuronal ceroid lipofuscinosis (CLN10), a rare disease that ... Read more
May 17, 2018May 17, 2018
‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act ... Read more
May 16, 2018
#ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live ... Read more
May 15, 2018May 15, 2018
Lack of Progranulin Protein Sheds Light on Molecular Features of Batten Disease, Study Shows

A deficiency of the progranulin protein leads to abnormalities in lysosomal function and may explain some of the molecular processes ... Read more
May 11, 2018May 11, 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, ... Read more
May 8, 2018May 8, 2018
More Reliable Tools Needed to Research CLN3 Protein in Batten Disease, Study Shows

Research into the CLN3 protein, whose nonfunctional form underlies juvenile Batten disease, may be compromised by the use of ... Read more
May 4, 2018May 4, 2018
Brineura Helps Children with CLN2 Retain Motor, Language Skills, Trial Data Show

Treatment with Brineura (cerliponase alfa) reduces decline in motor and language function in children with ceroid lipofuscinosis type ... Read more
May 2, 2018
#ECRD2018 – Patient Access and Collaboration Focus of Eurordis Meeting May 10-12

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ... Read more
April 27, 2018April 27, 2018
ABO-202 Earns EMA’s Orphan Drug Status for Infantile Batten Disease

ABO-202, Abeona Therapeutics‘ investigational candidate for the treatment of infantile Batten disease has received orphan drug status by the ... Read more
April 24, 2018April 24, 2018
Several Compounds Found to Correct Brain Defects in Mouse Model of CLN3 Disease

Several compounds were able to correct defects in the brain caused by juvenile neuronal ceroid lipofuscinosis (CLN3) in both cellular and ... Read more
April 20, 2018April 20, 2018
Hair-like Structures on Cells Play Role in Batten Disease Development, Mouse Model Shows

Disruption of cilia, hair-like structures extending from the surface of cells, may play a role in Batten disease pathology, ... Read more

May 22, 2018May 22, 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 function in Batten disease, according to a mouse study. The study, “Conditional loss of progranulin ... Read more

May 18, 2018May 18, 2018

New Mutation Found in Newborn with Congenital Neuronal Ceroid Lipofuscinosis, Case Study Reports

A new mutation was identified in a baby girl with congenital neuronal ceroid lipofuscinosis (CLN10), a rare disease that belongs to the heterogeneous group of neuronal ceroid lipofuscinoses (NCL), ... Read more

May 17, 2018May 17, 2018

‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. ... Read more

May 16, 2018

#ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in ... Read more

May 15, 2018May 15, 2018

Lack of Progranulin Protein Sheds Light on Molecular Features of Batten Disease, Study Shows

A deficiency of the progranulin protein leads to abnormalities in lysosomal function and may explain some of the molecular processes involved in Batten disease and other neurodegenerative disorders, researchers say. ... Read more

May 11, 2018May 11, 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, and researchers predict that targeted combination therapies will improve patients’ ... Read more

May 8, 2018May 8, 2018

More Reliable Tools Needed to Research CLN3 Protein in Batten Disease, Study Shows

Research into the CLN3 protein, whose nonfunctional form underlies juvenile Batten disease, may be compromised by the use of unreliable antibodies that lack specificity, researchers suggest. The study, “Lack ... Read more

May 4, 2018May 4, 2018

Brineura Helps Children with CLN2 Retain Motor, Language Skills, Trial Data Show

Treatment with Brineura (cerliponase alfa) reduces decline in motor and language function in children with ceroid lipofuscinosis type 2 (CLN2), a subtype of Batten disease, new results from an extension ... Read more

May 2, 2018

#ECRD2018 – Patient Access and Collaboration Focus of Eurordis Meeting May 10-12

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan ... Read more

April 27, 2018April 27, 2018

ABO-202 Earns EMA’s Orphan Drug Status for Infantile Batten Disease

ABO-202, Abeona Therapeutics‘ investigational candidate for the treatment of infantile Batten disease has received orphan drug status by the European Medicines Agency. This new status adds to the previously ... Read more

April 24, 2018April 24, 2018

Several Compounds Found to Correct Brain Defects in Mouse Model of CLN3 Disease

Several compounds were able to correct defects in the brain caused by juvenile neuronal ceroid lipofuscinosis (CLN3) in both cellular and mouse models, uncovering potential therapeutic candidates for treating the disease. Because ... Read more

April 20, 2018April 20, 2018

Hair-like Structures on Cells Play Role in Batten Disease Development, Mouse Model Shows

Disruption of cilia, hair-like structures extending from the surface of cells, may play a role in Batten disease pathology, a mouse study suggests. The study, “Proteomics insights into infantile ... Read more