Rare Genetic Diseases

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Research Summaries

FDA Approval

FDA Approval

FDA Expands Joenja Approval to Children Aged 4 to 11 Years With APDS

09/25/2026

Anthony Calabro, MA

Pediatric safety and pharmacokinetic findings supported expanding leniolisib to children aged 4 to 11 years who weigh at least 27 kg, establishing the first FDA-approved treatment for activated...

09/25/2026

FDA Approval

FDA Approval

FDA Approves Zanvastro as First Treatment for Alexander Disease

09/16/2026

Anthony Calabro, MA

Clinical and pharmacokinetic evidence supported approval of zilganersen across pediatric and adult age groups, providing the first therapy designed to reduce production of the abnormal GFAP protein...

09/16/2026

FDA Approval

FDA Expands Casgevy Approval to Children Aged 2 Years and Older With Sickle Cell Disease or Transfusion-Dependent β-Thalassemia

07/21/2026

Anthony Calabro, MA

The FDA expanded approval of exagamglogene autotemcel (Casgevy) for patients aged 2 years and older with sickle cell disease and recurrent vaso-occlusive crises or transfusion-dependent β-thalassemia. ...

07/21/2026

Research Summary

Research Summary

Phase 3 Trial: Oral Infigratinib Improves Annualized Height Velocity in Children With Achondroplasia

07/16/2026

Anthony Calabro, MA

In a phase 3 RCT of children aged 3 to 17 years with achondroplasia, once-daily oral infigratinib significantly increased annualized height velocity vs placebo at 52 weeks.

07/16/2026

Research Summary

Research Summary

Early NT-proBNP Worsening, Heart Failure Hospitalization Predict Mortality at 6 Months in ATTR-CM

07/15/2026

Anthony Calabro, MA

In a landmark survival analysis of 596 consecutive patients with transthyretin amyloid cardiomyopathy, worsening NT-proBNP and heart failure hospitalization at 6 months were independently associated with...

07/15/2026

October 2026

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October 2026