Latest News in Cell and Gene Therapy for Rare Disease Day 2024


In observance of Rare Disease Day, held this year on February 29, catch up on some of the latest data updates from clinical trials for rare diseases.

Over the past few months, CGTLive® has covered news and updates from clinical trials of cell and gene therapies in development for patients with a number of rare diseases, including data that were presented at the 2024 WORLDSymposium, held February 4-9, in San Diego, California.

For Rare Disease Day, which is observed this year on February 29, the CGTLive team has gathered some of the latest updates on rare disease research below:

UX111 Reduces Heparin Sulfate, Correlating With Benefit in Cognitive Function in Pediatric MPSIIIA

UX111 gene therapy reduced heparin sulfate exposure in the cerebrospinal fluid (CSF), which correlated with stabilized or improved cognitive function in patients with mucopolysaccharidosis type IIIA (MPSIIIA), also known as Sanfilippo syndrome. These data, from the phase 1/2/3 UX111-CL301 clinical trial (NCT04088734) were presented by Heather Lau, MD, MS, executive director, global clinical development, Ultragenyx, at the 2024 WORLDSymposium. UX111 is an AAV9 viral vector encoding human SGSH administrated in a single intravenous injection.

FDA Pushes Rocket’s LAD-I Gene Therapy PDUFA for CMC Review

The FDA has extended its priority review for Rocket Pharmaceuticals’ Kresladi (marnetegragene autotemcel; RP-L201) gene therapy for treating leukocyte adhesion deficiency-I (LAD-I), pushing back the therapy’s Prescription Drug User Fee Act (PDUFA) date from March 31, 2024, to June 30. The FDA shared that the delay will serve to allow additional time to review clarifying Chemistry, Manufacturing, and Controls (CMC) information submitted by Rocket in response to FDA information requests. An advisory committee meeting will not be needed, the agency confirmed.

Orchard Therapeutics’ Arsa-cel Restores ARSA Enzyme Activity in Patients With Late Juvenile MLD

Orchard Therapeutics’ atidarsagene autotemcel (arsa-cel, also referred to as OTL-200 and approved as Libmeldy in the European Union, UK, Iceland, Liechtenstein, and Norway), a gene-edited cell therapy intended to treat metachromatic leukodystrophy (MLD), has enabled restoration of arylsulfatase A (ARSA) enzyme activity among patients with the late juvenile (LJ) form of MLD. The results, which come from participants in a phase 3 clinical trial (NCT04283227), were presented in a poster at the 2024 WORLDSymposium. Among the 5 patients with LJ MLD who were included in the ad hoc interim analysis, all who had available data showed normal hematological reconstitution and engraftment that was consistent with arsa-cel outcomes seen in patients with early-onset MLD who have been treated in other settings.

Encoded Therapeutics’ Dravet Syndrome Gene Therapy ETX101 Cleared for Separate Clinical Trials in the US and Australia

Encoded Therapeutics’s ETX101, an investigational AAV vector-based gene therapy intended to treat SCN1A+ Dravet syndrome, has received clearance from the FDA and the Australia Therapeutic Goods Administration for 2 separate clinical trials in each agency’s respective jurisdiction. The planned phase 1/2 US clinical trial (ENDEAVOR; NCT05419492) will seek to recruit patients aged 6 months to 3 years. It will take the form of a 2-part dose escalation study. In the first part, up to 2 dose levels of ETX101 will be evaluated in 4 participants.

Discontinued GM1 Gangliosidosis Gene Therapy Shows no Evidence of Clinical Benefit

Treatment with LYS-GM101 gene therapy was generally well-tolerated but showed little evidence of a biochemical or clinical benefit in participants with infantile GM1 gangliosidosis treated in a phase 1/2 clinical trial (NCT04273269). Data from the trial, which was discontinued by its sponsor Lysogene, were presented at the 2024 WORLDSymposium by Arunabha Ghosh, MB BChir, PhD, clinical research fellow – pediatric inherited metabolic diseases, Central Manchester University Hospitals NHS Foundation Trust. The trial had treated 5 patients, 2 with late infantile GM1 and 3 with early infantile GM1.

Ultragenyx Completes Dosing of UX701 Gene Therapy in Patients With Wilson Disease

Ultragenyx has completed the dosing of patients with Wilson disease with its investigational AAV9 gene therapy, UX701, in the first stage of the ongoing phase 1/2/3 Cyprus2+ study (NCT04884815), according to a recent announcement. These 15 patients include all of those enrolled across 3 dose-escalation cohorts, assessing varying levels of genome copy (GC) delivery: 5.0 x 1012 GC/kg, 1.0 x 1013 GC/kg, and 2.0 x 1013 GC/kg.

Ahead of Announcing Positive Results Seen in Trial for Gene Therapy FBX-101, Forge Biologics’ CEO Makes Comment Supporting Krabbe Disease’s Addition to RUSP

Forge Biologics, which is developing AAV vector-based gene therapy FBX-101 for the treatment of Krabbe disease, announced that Timothy J. Miller, PhD, the CEO and president of Forge, made a comment during a public meeting of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) on January 30, 2024, supporting the addition of Krabbe disease to the national Recommended Uniform Screening Panel (RUSP).

Sarepta Therapeutics' Phase 3 Study for Limb-Girdle Muscular Dystrophy Gene Therapy SRP-9003 Begins Screening Activities

Sarepta Therapeutics has begun screening patients for EMERGENE, a phase 3 clinical trial (NCT identifier pending) that will evaluate SRP-9003 (bidridistrogene xeboparvovec), an investigational AAV vector-based gene therapy intended to treat limb-girdle muscular dystrophy Type 2E (LGMD2E/R4, also known as beta sarcoglycanopathy).

Taysha Doses First Pediatric Patient With Rett Syndrome With Gene Therapy TSHA-102

The first pediatric patient has been dosed in the phase 1/2 REVEAL Pediatric Study clinical trial (NCT06152237) evaluating Taysha Gene Therapies’ TSHA-102, an investigational AAV vector-based gene therapy, for the treatment of Rett syndrome. The first patient in the trial, which is initially treating female patients aged 5 to 8 years who have stage 3 Rett syndrome, was treated in the United States at RUSH University Medical Center in Chicago.

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