Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
News
The Batten Disease Family Association (BDFA) is moving forward with a fundraising campaign aimed at developing a United Kingdom study that would use Brineura (cerliponase), an enzyme replacement therapy (ERT), to try to maintain eyesight in children with a type of Batten disease known as…
Taysha Gene Therapies has announced a partnership with Invitae to support two of Invitae’s programs that enable more rapid diagnoses for patients with lysosomal storage disorders and epileptic conditions, including Batten disease. Through this partnership, patients who are screened for genetic conditions through either of the two programs…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is…
Amicus Therapeutics‘ investigational gene therapy AT-GTX-501 stabilized motor and language function in children with variant late infantile neuronal ceroid lipofuscinosis 6 disease — also known as CLN6 Batten disease — two years…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
The Scottish Medicines Consortium (SMC) has recommended that Brineura (cerliponase alfa) — the first and only approved treatment for late infantile Batten disease, also known as CLN2 disease — be made available through the National Health Service (NHS) Scotland, the Batten Disease…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
Cannabinoids were used to successfully treat seizures in a patient with Batten disease for whom conventional therapies alone failed, according to a case report, suggesting that cannabinoids should be investigated further as a possible seizure treatment. The report, “Successful treatment of cannabinoid administration against refractory…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
Recent Posts
- Trial of gene therapy for CLN7 Batten disease coming to Canada
- Processing grief so that it becomes fuel for Batten disease advocacy
- 3D retina model reveals how vision loss may begin in juvenile Batten disease
- Back-to-school season reminds me of the life my son should be living
- Missing my son in heaven brings a unique kind of loneliness
- CBD may delay seizures, shorten their duration in late infantile Batten
- Behind the Batten disease advocate is a grieving mother
- 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