As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…
News
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
Long-term follow-up of two siblings with Batten disease unveiled symptoms of slowly progressive motor deterioration, persistent photosensitivity, and seizures without dementia, according to a case report. The case report, “Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A,” was published in the journal Epileptic Disorders.
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 in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice…
News
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), also known as Batten disease. The study, “Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause…
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. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
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 Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…
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. Their study, “Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency,” was published in…
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’ quality of life. The study supporting that contention, “Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal…
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 of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein…
Recent Posts
- Research takes time that our children with Batten disease don’t have
- Batten disease study from Argentina shows regional data is key
- My son may be in heaven, but I will never stop being his mother
- A mother’s dream for her child with Batten disease, written across heaven
- Low quality of life found for children with juvenile Batten and their parents
- Gut bacteria changes likely side effect, not driver, of CLN2 disease
- A moment in the sun shines a light on more than just the hard parts
- The part of rare disease care they don’t prepare you for
- Wearable device may aid Batten disease children with vision loss: Study
- Acknowledging the invisible cost of being a caregiver for Batten disease