News

The U.S. Food and Drug Administration (FDA) has cleared Neurogene’s request to conduct a Phase 1/2 clinical trial to evaluate the safety, tolerability, and efficacy of NGN-101, an investigational gene therapy to treat CLN5, a form of late-infantile Batten disease. The therapy uses a harmless adeno-associated virus (AAV)…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

A natural history study in people with CLN7 disease is now fully enrolled, but patients with CLN5 disease — each a form of late-infantile Batten disease, and both are in this study — are still needed, Neurogene, which is sponsoring the research, announced. The study (NCT03822650), underway at…

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…

Juvenile Batten disease is difficult to diagnose promptly and accurately, as demonstrated by the case of twin girls with different symptoms of the same disorder. The case suggests that a referral to a specialist should be made when a patient’s clinical picture doesn’t line up with their history, or…

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

The U.S. Food and Drug Administration (FDA) has granted both orphan drug and rare pediatric disease designations to LX1004, an investigational gene therapy for CLN2 disease, also known as late infantile Batten disease. “Both designations granted to LX1004 underscore the critical importance and urgency to advance new treatment approaches…