Genetic Disorders

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Pediatric Pearls

Pediatric Pearls

Heart Defects Among Boys With Hypospadias

05/21/2023

A 2-year-old boy presents with his parents to a pediatric clinic. He had previously been diagnosed with hypospadias. His parents explain that he has been showing symptoms of troubled breathing, excessive...

05/21/2023

Research Summaries

FDA Alert

FDA Approves First Nonsteroidal Treatment for Patients With Duchenne Muscular Dystrophy

04/18/2024

Anthony Calabro, MA

The FDA approved givinostat, a nonsteroidal oral medication, for treating patients 6 years of age or older with Duchenne muscular dystrophy.

04/18/2024

FDA Alert

First Gene Therapies Approved to Treat Adult, Pediatric Patients With Sickle Cell Disease

03/19/2024

Jessica Ganga

The FDA approved two gene therapies, the first of their kind, to treat patients aged 12 years and older with sickle cell disease.

03/19/2024

Research Summary

FLT3 Inhibitor Plus Chemotherapy Improves Survival in Patients with FLT3-mutated Acute Myeloid Leukemia

10/26/2023

Anthony Calabro, MA

Researchers set out to determine the impact of midostaurin in adult patients with FLT3-mutated acute myeloid leukemia.

10/26/2023

FDA ALERT

FDA Approves First Treatment for Rare, Degenerative Disease

04/18/2023

Jessica Ganga

The FDA has approved a treatment for Friedreich ataxia after the results of randomized, placebo-controlled study indicate a strong effectiveness in treatment.

04/18/2023

Enzyme Replacement Therapy

First Enzyme Replacement Therapy to Treat Rare Genetic Disorder Approved

03/17/2023

Jessica Ganga

Following a multicenter study, the FDA has approved the first enzyme replacement therapy in the United States to treat alpha-mannosidosis.

03/17/2023

April 2024

Current Issue

April 2024

Volume 64

Issue 4