Rare Diseases Clinical Trials Update: Week 33, 2026

Published August 14, 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.

Mapping Disease Pathways for Biliary Atresia

This study by the University of Pittsburgh is exploring the genetic and developmental causes of biliary atresia, a serious liver condition that affects newborns. By understanding how this disease develops, researchers hope to find new ways to diagnose or treat it earlier, which could improve the health and outcomes for children with this rare condition. The trial is currently recruiting participants in the United States and plans to include 1100 children and families.

Trikafta in Cystic Fibrosis Patients

Emory University conducted a Phase 2 trial testing the drug Trikafta in cystic fibrosis patients with rare gene mutations that are not currently approved for this treatment. This study aimed to see if Trikafta could help those who do not benefit from existing therapies. The trial enrolled 42 participants in the United States, and results are now available, potentially expanding treatment options for people living with uncommon forms of cystic fibrosis.

A Clinical Trial to Investigate Long-term Safety, Tolerability, and Efficacy of Weekly Subcutaneous Doses With TransCon CNP in Children and Adolescents With Achondroplasia

This Phase 2 trial led by Ascendis Pharma is testing weekly injections of TransCon CNP in children and adolescents with achondroplasia, a rare bone growth disorder. The study focuses on understanding how safe and effective this treatment is over a longer period. If successful, it could offer a new therapy to support better bone growth and development for young patients with achondroplasia. The trial is enrolling children who previously took part in a related study, with visits scheduled every few months across several countries.

Methylphenidate in KBG Syndrome: N-of-1 Series

Radboud University Medical Center is running a trial to test if methylphenidate, a common medication for attention difficulties, can help children and adolescents with KBG syndrome who also have ADHD symptoms. This study uses a design where each participant receives both the medication and a placebo in different periods to see if the drug improves attention and reduces ADHD-related behaviors. The trial is currently recruiting in the Netherlands, offering hope for better symptom management in this rare condition.

A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia

This Phase 2 study conducted in China by Visen Pharmaceuticals tested different doses of TransCon CNP, given as weekly injections, in children with achondroplasia. The goal was to assess how safe the treatment is and whether it helps improve growth in these children. With 24 participants, the results from this study may support the development of new treatments for this rare growth disorder.

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