Nonprofit Group Team Joseph Helps Meet the Needs of Patients With DMD
The nonprofit Team Joseph raises money for scientific studies, but also looks for immediate gaps or needs not being met by other patient organizations.
Cardiologists
An Interview With Marissa Penrod, Founder of DMD Nonprofit Group Team Joseph
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Marissa Penrod, founder of the Indiana-based nonprofit group Team Joseph.
Patients With DMD Show Improved Upper Limb Function on CAP-1002
Capricor Therapeutics reported improvements in skeletal muscle function in nonambulatory patients with Duchenne muscular dystrophy (DMD) who were treated with the experimental drug CAP-1002, according to a press release by the company. These results were recorded from the HOPE-2 open-label extension study. According to the findings of this study, patients reported statistically significant improvements in…
FDA Places Hold on Phase 2 DMD Trial for SRP-5051
Sarepta’s Duchenne muscular dystrophy (DMD) drug candidate SRP-5051 (vesleteplirsen) was placed on clinical hold by the US Food and Drug Administration (FDA) due to a serious adverse event of hypomagnesemia that developed during the MOMENTUM clinical trial. The FDA is now requesting information from the company about all cases of hypomagnesemia. “Patient safety is always…
Clinical Trial Testing Pompe Disease Gene Therapy Put on Hold
A phase 1/2 clinical trial evaluating the safety and efficacy of an experimental gene therapy for Pompe disease was put on clinical hold by the US Food and Drug Administration (FDA) following a serious adverse event of peripheral sensory neuropathy in 1 patient during the trial. “Patient safety is our top priority,” Weston Miller, MD,…
How I Turned a Pompe Diagnosis Into a Challenge I Would Not Walk Away From
A diagnosis of Pompe disease can take years and patients suffer with pain and weakness in the meantime.
A Rare Case of Pompe Disease and Congenital Myasthenic Syndrome
Researchers reported a rare case of a 4-year-old girl with co-occurrence of Pompe disease and congenital myasthenia syndrome type 5. The case report, published in Cureus, described good results from whole-exome sequencing for an early diagnosis and subsequent alglucosidase alfa enzyme replacement therapy (ERT), which is currently the only approved treatment for Pompe disease. “Early…
Longer Walk Distance Correlated With Improved Outcomes in Pompe Study
Scientists have discovered that improved walking distance is associated with improved quality of life in patients with Pompe disease, and published their findings in Value in Health. In incurable, progressive diseases such as Pompe disease, improving a patient’s quality of life becomes the cornerstone medical objective. Scientists have explored various ways to measure the quality…
Cardiac Autonomic Dysfunction Linked With Parasympathetic Impairment in MG
Researchers in Poland explored cardiovascular autonomic dysfunction in patients with myasthenia gravis (MG) by utilizing various testing methods and published their results in the Journal of Clinical Medicine. They included 38 patients with MG whose cardiovascular autonomic testing results were compared with those of 30 age- and gender-matched controls. The study recorded participants’ cardiovascular parameters,…
Lessons From a Case Study of an Infant With Primary Carnitine Deficiency
A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
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