People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat while on treatment, which is linked to reduced muscle strength and motor function, according to a new study. These findings support the use of muscle imaging to assess…
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Two novel mutations in the GAA gene were linked with cerebral stroke in two siblings with late-onset Pompe disease (PD), a study from China reports. The study, “GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease,” was published in the journal…
First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…
The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…
Ultrasound could help evaluate diaphragm and respiratory function in people with late-onset Pompe disease (LOPD), a study suggests. The study, “Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease,” was published in the journal Neurological Sciences. LOPD is a genetic disorder…
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) —…
A small molecule called 3-BrPA was able to lower levels of glycogen — a complex sugar that builds up to toxic levels in Pompe disease — and ameliorate muscle and heart structural defects in a new zebrafish model of the genetic disorder, a recent study has shown.
The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the importance of screening for early detection of the rare genetic disorder. A sensitive and inexpensive screening system could improve the prognosis of infants with Pompe disease (PD), the researchers…
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…
When used in combination with enzyme replacement therapy, albuterol improves lung and motor function in patients with late-onset Pompe disease (LOPD), a Phase 1/2 trial showed. Trial findings were reported in the study, “Improved muscle function in a phase I/II clinical trial of albuterol…