Rare Diseases Clinical Trials Update: Week 32, 2026

Published August 7, 2026 — 4 trials covered

By Victor Lafforgue, Founder of TrialsAlert. Blog posts are AI-drafted from ClinicalTrials.gov source data and reviewed by the editorial team. See our editorial policy for details.

Stem Cell Gene Therapy for Cystinosis

This Phase 1/2 trial led by the University of California, San Diego explored a new gene therapy approach for cystinosis, a rare genetic disorder that affects how the body processes certain materials. The treatment uses patients’ own stem cells, which are modified to correct the genetic problem at the root of the disease. Results from seven participants in the United States are now available, offering hope for a therapy that could go beyond symptom management to address the cause of cystinosis directly.

A 52-Week Study Evaluating the Efficacy and Safety of Arumakimig (MAS825) in Participants With VEXAS Followed by Open-Label Extension (OLE) Period

This Phase 2 study sponsored by Novartis Pharmaceuticals is testing Arumakimig, a drug aimed at adults with VEXAS syndrome. VEXAS is a rare autoimmune disorder that can cause severe inflammation and other symptoms. The trial is investigating whether Arumakimig can improve symptoms and reduce reliance on steroids, which often have significant side effects. The study plans to include 120 participants and will provide results after a year of treatment.

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Boston Children’s Hospital is running an observational study to better understand Phelan-McDermid Syndrome, a rare condition that affects development and behavior. This research tracks children over two years to learn more about their cognitive, behavioral, and medical characteristics. The goal is to identify biological markers and genetic factors that could improve diagnosis and guide future treatments for this syndrome and related conditions like autism and intellectual disability.

A Fabry Disease Gene Therapy Study

Spur Therapeutics conducted a Phase 1 trial testing a gene therapy called FLT190 in adult males with classical Fabry disease, a rare condition caused by a deficiency in a specific enzyme. The therapy aims to reduce the need for lifelong enzyme replacement treatments, which can be burdensome for patients. Initial results from participants across several countries have been reported, providing early insights into the potential of this new approach.

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