Larry J Bauer, Senior Regulatory Drug Expert from Hyman, Phelps, & McNamara PC, a dedicated food and drug law firm, discusses an upcoming patient-focused drug development (PFDD) meeting on galactosemia.
Galactosemia is a rare metabolism disorder that affects the body’s ability to convert galactose to glucose. The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to conversion of galactose to glucose. As galactose is present in breast milk and produced by the human body, within a few days or weeks, infants with this condition lose their appetite and start vomiting excessively. Jaundice, hepatomegaly, appearance of amino acids and protein in the urine, growth failure, and, ultimately, ascites with edema may also occur. Diarrhea, irritability, lethargy and a bacterial infection may also be early signs of galactosemia. In time, wasting of body tissues, marked weakness, and extreme weight loss occur unless lactose is removed from the diet. Early diagnosis and treatment with a dairy-free diet is essential to avoid profound intellectual disability, liver failure, and death in the newborn period.
On September 1st, the National Organization for Rare Disorders (NORD), in collaboration with The Galactosemia Foundation, is hosting an externally-led PFDD (EL-PFDD) meeting on galactosemia to discuss the symptoms that matter most to patients, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. Galactosemia patients, caregivers, advocates, healthcare providers, researchers, and industry professionals are all invited to attend. To register for this event, please visit here.
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