Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…
News
In a proof-of-principle experiment, a new gene therapy approach with the potential to treat people with Huntington’s disease has been shown to effectively convert astrocyte brain cells of mice into functioning neurons. Those neurons took the place of nerve cells in the mice that were damaged by…
Enroll-HD, the world’s largest observational study of Huntington’s disease, hopes to add thousands of patients to its registry, reaching a possible total of 30,000 over the next three years. Georg Bernhard Landwehrmeyer, MD, its principal investigator, spoke about the ambitious project at last month’s European Conference on Controversies…
A Phase 1 clinical trial testing Roche’s investigational therapy tominersen for Huntington’s disease has been placed on hold after two cases of infection were found during the study. The infections were linked to the device used to take samples of patients’ cerebrospinal fluid (CSF, the…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
New preclinical data continues to support uniQure’s AMT-130 investigational gene therapy for Huntington’s disease. Results reveal the therapy lowered the levels of toxic huntingtin protein in nerve cells derived from Huntington’s patients as well as in mouse, mini-pig and non-human primate models of the disease. The results were shared…
A potential treatment called RG6042, which target all forms of the mutant huntingtin protein (mHTT) — the underlying cause of Huntington’s disease, has been named an orphan drug by the Ministry of Health,…
In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
News
Antihypertensives Linked to Later Onset, Milder Disease in Huntington’s Patients, Large Study Finds
Use of antihypertensives — medications used to treat high blood pressure — is associated with milder disease, slower progression, and delayed clinical onset in people with Huntington’s disease, a study found. The findings suggest an “exciting future avenue to explore the repurposing of specific antihypertensive medications for the…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
Recent Posts
- What Cuban food taught my wife about rare disease research
- The reality of invisible symptoms and the myth of ‘you don’t look sick’
- Lung disease treatment shown to ease symptoms in Huntington’s rat model
- The stubborn placebo: Finding hope amid the turmoil over AMT-130
- When being able to function is a moving target