Clinical Trials for Rare Diseases

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

NCT ID: NCT06595940

This clinical trial is focused on understanding the genetic causes of rare and undiagnosed diseases, especially in children and families living outside the United States. Researchers want to use ad...

Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID)

NCT ID: NCT06721871

This clinical trial is studying a medication called crofelemer, which is being tested for safety and effectiveness in treating children with Microvillus Inclusion Disease (MVID). MVID is a rare gen...

Longitudinal Studies of Patient With FPDMM

NCT ID: NCT03854318

This clinical trial is studying familial platelet disease (FPD) and its related conditions, particularly those caused by changes in the RUNX1 gene. People with this condition may have bleeding issu...

UW Undiagnosed Genetic Diseases Program

NCT ID: NCT04586075

The UW Undiagnosed Genetic Diseases Program is a clinical trial aimed at finding new genetic causes for rare diseases that doctors have been unable to diagnose. The study is looking for 500 partici...

BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe

NCT ID: NCT06856902

The BEAMER project is a clinical trial aimed at improving how patients stick to their treatment plans for various health conditions, including heart disease, diabetes, immune disorders, brain disor...

Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases

NCT ID: NCT06786754

This clinical trial is focused on understanding the role of fibroblasts, which are cells that help repair tissue, in the development of thoracic aortic aneurysms (TAAs) in people with Marfan syndro...

Genomic Profiling of Genetic and Rare Diseases

NCT ID: NCT06926127

This clinical trial is focused on understanding rare genetic diseases, which affect a large number of people in Italy. The goal is to use advanced genetic testing methods, called Whole Exome Sequen...

Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases

NCT ID: NCT04024774

The Solve-RD clinical trial is focused on finding the genetic causes of rare diseases that have not been identified through current testing methods. Many rare diseases are believed to have a geneti...

Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes

NCT ID: NCT04731857

This clinical trial is focused on understanding how effective advanced genetic tests, like exome and genome sequencing, are in diagnosing rare diseases and certain inherited tumor syndromes. The re...

Genetic Causes of Discrepant Clinic in Monogenic Twins

NCT ID: NCT04046796

The DISCO-TWIN study is looking into the genetic reasons why one twin may be healthy while the other has a rare disease that doctors have struggled to diagnose. Researchers will examine pairs of id...

Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation

NCT ID: NCT06860672

This clinical trial is testing a new treatment for children and young adults with a specific genetic mutation (the CHD3-R1025W mutation) that can lead to developmental delays and intellectual disab...

PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing

NCT ID: NCT06796751

The PREcision Diagnostics trial is exploring a new testing method called long-read sequencing (LRS) to help diagnose rare genetic diseases. This study aims to find answers for patients who have alr...

Marfan Syndrome and Quality of Life of Pediatric Patients

NCT ID: NCT05748314

This clinical trial is focused on understanding how Marfan syndrome (MFS) affects the quality of life in children and teenagers. Researchers want to find out how MFS impacts things like self-image,...

Aortic Stiffness in Patients with Genetic Aortopathies

NCT ID: NCT05715203

This clinical trial is studying a condition called aortic stiffness in patients who have a genetic disorder that affects their blood vessels, specifically those with ascending aortic aneurysms. The...

Rare and Undiagnosed Disease Research Biorepository

NCT ID: NCT04703179

Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment

NCT ID: NCT05702476

This clinical trial is exploring how Marfan syndrome (MFS) affects the shape and features of the face. Researchers want to understand specific facial characteristics associated with MFS and how the...

Using Social Robots in Children With Rare Diseases and Their Parents: A Feasibility Study

NCT ID: NCT06466109

This clinical trial is exploring how a social robot, named PARO, can help families dealing with rare diseases. The researchers want to find out if using this robot can improve the relationships bet...

Solving Riddles Through Sequencing

NCT ID: NCT05046444

The clinical trial titled "Solving Riddles Through Sequencing" is investigating how advanced genetic testing methods can help doctors better diagnose certain types of blood cancers, such as leukemi...

Swiss Rare Disease Registry (SRDR)

NCT ID: NCT05179863

The Swiss Rare Disease Registry (SRDR) is a nationwide project in Switzerland aimed at gathering important information about rare diseases. This registry is designed for people of all ages who have...

A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives

NCT ID: NCT05794217

This clinical trial is focused on collecting and preserving special blood samples known as leukopaks. These samples, along with important health information, will be used in approved research studi...