News

Neurogene has enrolled the first patient in a natural history study of CLN5 and CLN7 disease, two forms of late-infantile Batten disease, the company announced. The study (NCT03822650), which is still recruiting, is being led by Jonathan Mink, MD, PhD, director of the University of Rochester Batten Disease…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

The U.S. Food and Drug Administration (FDA) has given a favorable opinion of the continued preclinical development plan for BBDF-101, a potential new treatment for juvenile Batten disease (CLN3). The plan, made by Theranexus and the Beyond Batten Disease Foundation (BBDF), supports efforts to submit an…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

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…

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,”…