News

Most people with rare diseases given an experimental therapy through compassionate use programs show clinical benefits, and most of these treatments ultimately end up getting approved, according to a review study. Based on these findings, the researchers argued that such programs — allowing certain patients with limited options access to…

About one in 10 medications sold in Canada have a patient support program provided by its manufacturer, and nearly half are for rare diseases. That’s according to a study in Canada that also found that patient support programs were offered more commonly for brand-name and expensive drugs. These programs, offered…

Skip Therapeutics is teaming up with the Sheba Medical Center in Israel to develop antisense oligonucleotides (ASOs), a type of therapy that can change a given gene’s activity, for rare diseases with a genetic basis. ASOs can be tailored to address specific genetic mutations, offering a bespoke treatment…

Although AADC deficiency is characterized by low levels of signaling molecules in the brain that impair its normal function, the disease may also cause neurodegeneration, a study suggests. Understanding how the disease may result in the gradual dysfunction, and ultimately death, of brain nerve cells could open up new…

PTC Therapeutics will meet with the U.S. Food and Drug Administration (FDA) in December to review the data the company intends to include in a regulatory application seeking the approval of its gene therapy Upstaza (eladocagene exuparvovec) for aromatic l-amino acid decarboxylase (AADC) deficiency. The meeting is expected…

The patient-centered healthcare data generation company PicnicHealth has acquired AllStripes, a platform that’s focused on gathering clinical evidence of people with rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. With the acquisition, PicnicHealth aims to its expand patient-centered strategies intended to help in the…

The National Organization for Rare Disorders (NORD) is offering a new education series to help patients understand how treatments are developed and encourage them to take part in the process, the goal being to create better therapies for rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. Its…

Treatment with Upstaza (eladocagene exuparvovec) is estimated to prolong survival and lead to life quality gains for aromatic l-amino acid decarboxylase (AADC) deficiency patients relative to standard supportive care. These are the findings of a recent study that used existing clinical data to model possible long-term outcome trajectories…

The U.S. Food and Drug Administration (FDA) has launched a pilot program, dubbed START, to accelerate the development of therapies for rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. Called, in full, the Support for clinical Trials Advancing Rare disease Therapeutics Pilot Program, the START initiative will…

Global rare disease organizations emphasized the importance of universal health coverage (UHC) for people with rare diseases during a side event to a meeting of United Nations (UN) member states to accelerate progress toward the goal of univeral coverage by 2030. The event, titled “A Blueprint for Leaving…