Rare Diseases Clinical Trials Update: Week 40, 2026

Published October 2, 2026 — 5 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.

Long-term Follow-up Study of Patients Receiving Onasemnogene Abeparvovec-xioi

This Phase 3 study by Novartis Gene Therapies is tracking children with spinal muscular atrophy (SMA) who previously received a gene therapy called onasemnogene abeparvovec-xioi. The goal is to understand the long-term safety and effectiveness of this treatment, which could help improve motor skills and quality of life for children with different types of SMA. Since the study includes participants from multiple countries, it provides valuable information about how this therapy works over time across diverse groups.

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Researchers at Albert Einstein College of Medicine are testing a newborn screening program that looks for several rare genetic metabolic diseases all at once. This study plans to screen 100,000 newborns in New York over nine years, aiming to identify conditions like Acid Sphingomyelinase Deficiency and Cerebrotendinous Xanthomatosis early. Early detection through screening means affected infants could start treatment sooner, potentially leading to better health outcomes.

Genomic Uniformed-Screening Against Rare Disease In All Newborns

Columbia University is exploring the use of genome sequencing for newborn screening to find early onset genetic conditions that almost always cause symptoms. By testing up to 100,000 newborns in the United States, this study hopes to expand the range of conditions detected soon after birth. Early knowledge of these conditions may allow families and doctors to make timely decisions about care and treatment.

Long-Term Follow-up Study for Patients From AVXS-101-CL-101

This ongoing study from Novartis Gene Therapies focuses on children with Spinal Muscular Atrophy Type 1 who received gene replacement therapy. The trial monitors the long-term safety of this treatment, which could change the way SMA Type 1 is managed. Conducted in the United States with a small group of patients, the study will continue for up to 15 years to gather important long-term data.

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

Baylor College of Medicine is testing rapid whole genome sequencing combined with virtual expert consultations for seriously ill newborns suspected of having rare diseases. This study aims to improve the speed and accuracy of diagnosis, which can be critical for starting the right care quickly. Recruiting in Texas, the study plans to enroll 200 infants over five years, potentially improving outcomes for babies with complex conditions.

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