Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, discusses the company’s current drug development programs.

checkrare.com/camp4-therap...

#CheckRare #RareNeurology #RareMetabolic #UCD #SYNGAP1

Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies.

checkrare.com/urea-cycle-d...

#CheckRare #RareDisease #UCD #RareMetabolic

Nicola Longo, MD, PhD, discusses data presented at the 2025 ACMG Annual Clinical Genetics Meeting highlighting the benefits of sepiapterin in patients with classical phenylketonuria.

checkrare.com/recent-data-...

#CheckRare #RareMetabolic #PKU

Reena Sharma, MD, Adult Metabolic Consultant at Salford Royal Hospital and University of Manchester, discusses plans for a phase 3 clinical trial evaluating FLT201 in patients with Gaucher disease.

checkrare.com/plans-for-a-...

#CheckRare #Gaucher #RareLysosomal #RareMetabolic #RareDisease

Caroline Hastings, MD, Professor of Pediatrics at UCSF Benioff Children's Hospital Oakland, discusses an open-label study of patients under 3 years of age with Niemann-Pick disease type C (NPC) being treated with Trappsol Cyclo.

shorturl.at/wLftJ

#CheckRare #NPC #RareMetabolic #RareDisease

Barbara Burton, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine, discusses a recent study examining the effectiveness of idursulfase in young patients with MPS II.

checkrare.com/effectivenes...

#CheckRare #MPSII #RareLysosomal #RareMetabolic

Sibling Study Dramatically Illustrates the Efficacy of Gene Therapy for Metachromatic Leukodystrophy Karen Bean discusses a recent study comparing the effect of gene therapy in treated versus untreated sibling pairs with early-onset MLD.

Karen Bean, Health Economist at Orchard Therapeutics, discusses a recent study comparing the effect of gene therapy in treated versus untreated sibling pairs with early-onset metachromatic leukodystrophy (MLD).

checkrare.com/sibling-stud...

#CheckRare #MLD #RareGenetic #RareMetabolic

The U.S. Food and Drug Administration (FDA) has approved Ctexli (chenodiol) for the treatment of cerebrotendinous xanthomatosis (CTX) in adults.

checkrare.com/fda-approves...

#CheckRare #RareMetabolic #CTX #FDAApproval