Condition

Rare Diseases clinical trials and research

• 34Clinical trials
• 35NIH research projects
• 12Countries

Newest Rare Diseases clinical trials

All recruiting trials (34)

• AI-assisted Rare-Disease Diagnosis

  A multicenter randomized test to see if an AI diagnostic tool can help doctors make faster, more accurate rare-disease diagnoses for patients with unresolved symptoms.

  Recruiting at 3 sites Peking Union Medical College Hospital · Cangzhou and 11 other locations · NCT07650799

• Socio‑professional inclusion for young people (15–25) with childhood-onset rare genetic disabilities

  This project will try to see what makes it hard for 15–25‑year‑olds with childhood-onset rare genetic conditions to access higher education, internships, or work.

  Recruiting Imagine Institute · Paris, Île-de-France Region · NCT07527624

• Treatment approaches for AChR-antibody positive generalized myasthenia gravis in Russia.

  This project will look at which treatments adults in Russia with AChR-antibody positive generalized myasthenia gravis receive and how their symptoms and hospitalizations change over time.

  Recruiting at 7 sites AstraZeneca · Kazan' and 6 other locations · NCT07247279

• Long-term outcomes for people with immune TTP in the French national TMA cohort

  This project uses past medical records to see long-term health outcomes and complications in people in France who had immune thrombotic thrombocytopenic purpura (iTTP).

  Recruiting Assistance Publique - Hôpitaux de Paris · Paris · NCT07205861

• Rapid genetic testing and virtual genetic consults for newborns with unexplained birth defects in Texas

  This project will test rapid whole genome sequencing and virtual genetic consultations for seriously ill newborns in Texas to find genetic causes of birth defects.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT07102966

• Identification of Cellular Biomarkers in Rare Eye Diseases

  This study tests whether specific gene and protein markers in cells and tears can distinguish adults with rare corneal diseases from others and relate to their eye symptoms.

  Recruiting Institut National de la Santé Et de la Recherche Médicale, France · Paris and 1 other locations · NCT07063719

• Genomic profiling for patients with rare and genetic diseases

  This study is trying to see if using advanced genetic testing can help doctors better understand and treat rare diseases for over 2 million patients in Italy.

  Recruiting Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Rome, Lazio · NCT06926127

• Using long-read sequencing to diagnose rare genetic diseases

  This study is testing a new DNA sequencing method to see if it can help people with rare genetic diseases get clearer diagnoses when previous tests didn’t provide answers.

  Recruiting IRCCS Azienda Ospedaliero-Universitaria di Bologna · Bologna, Bologna · NCT06796751

• Genetic analysis of rare diseases in non-US populations

  This study is trying to find the genetic causes of rare diseases in children and their families living outside the U.S. to improve understanding and access to testing in those areas.

  Recruiting National Institutes of Health Clinical Center (CC) · Moka · NCT06595940

• Registry for Rare Diseases

  This study is creating a detailed registry to collect information on rare diseases like amyloidosis and sarcoidosis to help improve how they are diagnosed and treated.

  Recruiting Hospital Italiano de Buenos Aires · Buenos Aires, Buenos Aires · NCT06573723

• Natural history assessment of Baker Gordon Syndrome

  This study is trying to learn more about how Baker Gordon Syndrome affects people over time by tracking their symptoms and collecting important health information to help with future treatments.

  Recruiting University of Missouri-Columbia · Columbia, Missouri · NCT06399952

• Screening for rare diseases using blood and urine samples

  This study is trying to collect blood and urine samples from people with suspected rare diseases and healthy individuals to see if they can find specific markers that help diagnose conditions like metabolic disorders and autism.

  Recruiting Cliniques universitaires Saint-Luc- Université Catholique de Louvain · Brussels and 3 other locations · NCT06360913

• Assessing gait and balance in rare neurological diseases

  This study looks at how walking and balance are affected in people with rare neurological diseases to better understand their challenges and risks of falling.

  Recruiting Istituto Auxologico Italiano · Milan, Milan and 1 other locations · NCT06343558

• Collecting data on advanced and rare cancers treated with personalized medicine

  This study is trying to see how people with advanced and rare cancers respond to personalized treatments when they have run out of other options.

  Recruiting University Health Network, Toronto · Toronto, Ontario · NCT06285500

• A network to improve care for people with epilepsy

  This study is trying to see if a new network can improve care and health outcomes for people with epilepsy by bringing together doctors, patients, and researchers to share and use health data.

  Recruiting at 10 sites Epilepsy Foundation of America · Phoenix, Arizona and 12 other locations · NCT06265103

• How ethnic background affects facial features in rare genetic disorders

  This project will test whether automated facial-analysis tools can recognize facial signs of rare genetic conditions equally well across different ethnic backgrounds in people with suspected genetic disorders.

  Recruiting National Taiwan University Hospital · Taipei · NCT05913843

• Collection and distribution of leukopak biospecimens for biomedical research

  This study is collecting blood samples and health information from up to 20,000 people to help researchers with various medical studies.

  Recruiting Sanguine Biosciences · Waltham, Massachusetts · NCT05794217

• Collecting data on rare tumors in children and adolescents

  This study is collecting information on rare tumors in kids and teens to help doctors improve how they diagnose and treat these conditions.

  Recruiting University Hospital Tuebingen · Tübingen · NCT05773651

• Evaluating aortic stiffness in patients with genetic aortopathies

  This study is testing how stiff the arteries are in people with aortic aneurysms caused by genetic conditions to see if it helps understand their risk better.

  Recruiting IRCCS Policlinico S. Donato · San Donato Milanese, Lombardy · NCT05715203

• Psychological support for adults with Marfan syndrome

  This study looks at why adults with Marfan syndrome seek psychological support and how their condition affects their mental health and coping skills.

  Recruiting IRCCS Policlinico S. Donato · San Donato Milanese, Lombardy · NCT05712577

• Assessing facial features in Marfan syndrome

  This study is trying to identify and track the facial features of people with Marfan syndrome to help with earlier diagnosis and understanding of the condition.

  Recruiting IRCCS Policlinico S. Donato · San Donato Milanese, Lombardy · NCT05702476

• Identifying genetic causes of rare diseases

  This study is trying to find out if certain genetic changes are linked to rare diseases by looking at samples from patients whose conditions are not well understood.

  Recruiting University Hospital, Angers · Angers · NCT05499091

• National registry for rare diseases in Switzerland

  This study is creating a national registry to collect important information about rare diseases in Switzerland to help improve care and support for patients of all ages.

  Recruiting at 10 sites University of Bern · Aarau and 19 other locations · NCT05179863

• Improving diagnosis of hematological diseases using advanced sequencing techniques

  This study is testing new genetic sequencing methods to help doctors better diagnose blood disorders in patients who currently have unclear or unusual symptoms.

  Recruiting Munich Leukemia Laboratory · Munich · NCT05046444

• Long-term observation of ultra-rare inherited neurological diseases.

  This study is looking to learn more about very rare inherited neurological diseases by tracking and collecting information from patients over a long time to see how these conditions change and affect their lives.

  Recruiting Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Milan, Milano · NCT04880356

• Genome-based management for patients with unclear genetic diseases

  This study is testing if using whole genome sequencing as a first step can help find the causes of unclear genetic diseases in about 12,000 patients.

  Recruiting University Hospital Tuebingen · Tübingen · NCT04760522

• Evaluating genetic testing methods for rare diseases and familial tumor syndromes

  This study looks at how well new genetic testing methods can help people with rare diseases and their families understand their risk for these conditions.

  Recruiting University Hospital Tuebingen · Tübingen · NCT04731857

• Rheopheresis as an add-on treatment for calciphylaxis in people on hemodialysis

  This trial will try adding rheopheresis to usual care to see if it helps people on hemodialysis with ulcerated or necrotic calciphylaxis skin lesions heal and improve symptoms.

  Recruiting at 16 sites University Hospital, Lille · Angers and 28 other locations · NCT04654000

• Program for discovering undiagnosed genetic diseases

  This study is trying to find new genetic causes for rare diseases by testing the DNA of 500 people who haven't been diagnosed yet.

  Recruiting University of Wisconsin, Madison · Madison, Wisconsin · NCT04586075

• Investigating cord resuscitation techniques for newborns with congenital diaphragmatic hernia

  This study is testing if delaying the clamping of the umbilical cord can help full-term newborns with congenital diaphragmatic hernia breathe better and have better health outcomes.

  Recruiting at 3 sites University Hospital, Lille · Amiens and 2 other locations · NCT04429750

• Investigating genetic causes in twins with different health outcomes

  This study is trying to find out what genetic differences might explain why one twin is healthy while the other has an undiagnosed disease.

  Recruiting University Hospital Tuebingen · Tübingen · NCT04046796

• Research to identify genetic causes of rare diseases

  This study is trying to find the genetic causes of rare diseases in patients by looking closely at their DNA and their family members' DNA to help improve diagnosis.

  Recruiting Centre Hospitalier Universitaire Dijon · Dijon · NCT04024774

• Observing patients with familial platelet disorder and RUNX1 variants

  This study is looking to learn more about patients with a specific blood disorder caused by RUNX1 gene changes, including how it affects them and their families, to find better ways to treat and manage the condition.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT03854318

• Evaluating heart involvement in patients with Fabry disease

  This study looks at patients with Fabry disease to see what factors might lead to heart problems like arrhythmias and heart failure.

  Recruiting Wuerzburg University Hospital · Würzburg, Bavaria · NCT03362164

NIH-funded research (35)

Early-stage science funded by the US National Institutes of Health. Most of these projects don't enroll patients, but they show what is being worked on.

• Liver pathobiology from rare liver diseases

  A study at UCSF looks at why rare liver conditions cause liver damage, with the aim of finding new ways to diagnose and treat chronic liver disease.

  NIH research University of California, San Francisco · San Francisco, United States · NIH-11594756

• Data Management and Coordinating Center support for Rare Diseases Research

  A national rare diseases research program is funding a center to manage data and coordinate studies to help improve diagnosis, care, and potential treatments for children with rare conditions.

  NIH research Cincinnati Childrens Hosp Med Ctr · Cincinnati, United States · NIH-11591458

• EEG-based drug repurposing for rare CNS diseases

  A new approach uses EEG brain signatures to find existing drugs that might help people with rare nervous-system disorders.

  NIH research Psychogenics, INC. · Paramus, UNITED STATES · NIH-11536936

• Ethics of Engaging Patient Groups in Drug Development for Rare Diseases

  This grant asks how patient and family groups can ethically help shape rare-disease drug development from idea to market, with input from patients, families, doctors, and researchers.

  NIH research Medical College of Wisconsin · Milwaukee, United States · NIH-11530731

• Center for Polyamine Disorders group study of rare metabolic disorders

  A research consortium is studying a group of rare metabolic disorders linked to polyamines and aims to understand symptoms, biomarkers, and disease progression to improve care.

  NIH research Henry Ford Health + Michigan State University Health Sciences · East Lansing, United States · NIH-11453331

• Encore: speeding up finding new uses for existing drugs to help kids with rare diseases

  A big NIH project will test thousands of existing medicines to see if any can help treat rare genetic diseases in children.

  NIH research Broad Institute, INC. · Cambridge, United States · NIH-11405200

• Advancing Craniosynostosis Care: Pilot/Feasibility Governance Core

  A pilot and governance program to speed up practical ideas for better care for children with syndromic craniosynostosis.

  NIH research Children's Hosp of Philadelphia · Philadelphia, United States · NIH-11397558

• Advancing Craniosynostosis Care Career Enhancement Core

  A program to train and connect clinicians and researchers so they can better care for patients with syndromic craniosynostosis.

  NIH research Children's Hosp of Philadelphia · Philadelphia, United States · NIH-11397543

• Advancing Craniosynostosis Care Through a Coordinated Administrative Core

  A national consortium of craniofacial centers and a patient data network is coordinating administrative and regulatory activities to support research on five craniosynostosis syndromes in children.

  NIH research Children's Hosp of Philadelphia · Philadelphia, United States · NIH-11397537

• Advancing Craniosynostosis Treatment for Young Children

  A nationwide collaboration will study how to diagnose and treat syndromic craniosynostosis in children, with long-term tracking of health and development.

  NIH research Children's Hosp of Philadelphia · Philadelphia, United States · NIH-11397535

• A System to Support Development and Success of Trials for Rare Cancers

  This grant aims to make it easier to run and enroll patients in rare cancer trials by strengthening network pathways and leadership in biomarker-driven studies.

  NIH research University of Pennsylvania · Philadelphia, United States · NIH-11394592

• Learning Precision Medicine for Rare Diseases with Data Mining

  Aimed at speeding up diagnosis for people with rare diseases by building a knowledge-led data mining framework that helps clinicians access up-to-date information.

  NIH research University of Texas Hlth Sci Ctr Houston · Houston, United States · NIH-11384758

• Framework to bring multi-omic discoveries into clinical care for rare diseases

  A team at Stanford is building practical rules and guidance for using multi-omics to diagnose and treat rare diseases in people.

  NIH research Stanford University · Stanford, United States · NIH-11374611

• Data Management and Coordination for Rare Disease Research Network

  A national effort to organize and manage information for rare disease studies to help doctors and researchers learn more and speed up treatments for children with rare conditions.

  NIH research Cincinnati Childrens Hosp Med Ctr · Cincinnati, United States · NIH-11360146

• African Rare Diseases Initiative: Advancing Genomic Medicine for rare diseases in Africa

  A study aims to map and understand rare diseases in the Democratic Republic of Congo to improve diagnosis, prevention, and care for patients and families.

  NIH research Centre de Genetique Humaine · Lemba, Congo Dem Rep · NIH-11358417

• Long-read genome sequencing to find disease-causing genetic variants in rare pediatric neurodevelopmental disorders

  Rare diseases in children may be caused by genetic variants that current sequencing misses, and this project tests a new long-read sequencing approach to uncover them.

  NIH research Hudson-Alpha Institute for Biotechnology · Huntsville, United States · NIH-11355486

• Ethics of patient and family partnerships in rare disease drug development

  This project is learning how patient and family groups can work with researchers, drug developers, and regulators in rare diseases so those partnerships are fair, trustworthy, and helpful.

  NIH research Stanford University · Stanford, United States · NIH-11269163

• Palliative care and advance planning for children with rare diseases and their families

  This project offers a family-centered advance care planning program to help parents of young children with rare diseases address palliative care needs and make future medical decisions.

  NIH research Children's Research Institute · Washington, United States · NIH-11267966

• Providing information and support for genetic and rare diseases.

  This study is all about how the Genetic and Rare Diseases Information Center helps people with genetic and rare diseases by providing easy access to helpful information in English and Spanish, so patients, families, and healthcare professionals can get the support they need.

  NIH research · Columbia, United States · NIH-11216122

• Advanced DNA Reading for Rare Diseases in Children

  This project uses a new DNA sequencing method to find the genetic causes of rare diseases, especially neurodevelopmental disorders in children.

  NIH research Hudson-Alpha Institute for Biotechnology · Huntsville, United States · NIH-11170608

• Using medical data and smart tools to speed diagnosis of rare diseases

  This project builds a computer-based knowledge hub and data tools to help doctors diagnose people with rare diseases faster and more accurately.

  NIH research University of Texas Hlth Sci Ctr Houston · Houston, United States · NIH-11127656

• Understanding liver disease through rare conditions

  This study is looking at chronic liver disease to find new ways to understand and treat it better, especially for people with rare liver conditions, so we can help reduce the need for liver transplants.

  NIH research Yale University · New Haven, United States · NIH-11085227

• Advancing genomic medicine for rare diseases in Africa

  This study is all about finding out more about rare diseases in Africa, especially in the Democratic Republic of Congo, so we can better understand them and help patients get the care they need.

  NIH research Centre de Genetique Humaine · Lemba, Congo Dem Rep · NIH-11084532

• Exploring the ethics of patient involvement in developing drugs for rare diseases

  This study looks at how patients and their families are helping to shape new treatments for rare diseases, while also exploring the tricky ethical questions that come up when they work with researchers and drug companies, all to make sure that everyone benefits fairly from these new therapies.

  NIH research Stanford University · Stanford, United States · NIH-11039662

• Evaluating the value of genomic sequencing for diagnosing rare diseases in children

  This study is looking at how using genetic testing can help find out what's causing rare diseases in kids, and it wants to hear from families and doctors to make sure it's helpful and fair for everyone involved.

  NIH research Stanford University · Stanford, United States · NIH-11032010

• Understanding the palliative care needs of children with rare diseases and their families

  This study is all about helping families with children who have rare diseases make tough medical decisions by creating a supportive plan that prepares them for future care options.

  NIH research Children's Research Institute · Washington, United States · NIH-11027250

• Using AI to improve diagnosis of rare diseases

  This study is working to make it easier and faster for people with rare genetic disorders to get the right diagnosis by using advanced technology to look at their genetic and health information.

  NIH research Clemson University · Clemson, United States · NIH-11015934

• Analyzing brain wave patterns to find new uses for existing drugs in rare diseases

  This study is looking to find new ways to use existing medications for rare diseases and mental health conditions by analyzing brain wave patterns from animal models, making it easier and cheaper to discover helpful treatments for people like you.

  NIH research Psychogenics, INC. · Paramus, UNITED STATES · NIH-11004734

• Creating a virtual reality platform for remote rehabilitation of patients with rare diseases

  This study is testing a new virtual reality program that helps doctors provide rehabilitation therapy for patients with rare diseases from home, making it easier for you to stay engaged and get personalized support while tracking your progress.

  NIH research Altec, INC. · Natick, United States · NIH-10948130

• Improving care for children with vascular anomalies

  This study is looking at how to make healthcare better for kids with rare blood vessel problems, especially those living in rural areas, so they can get the right treatment more easily and stay healthy.

  NIH research Ohio University Athens · Athens, United States · NIH-10929502

• Improving diagnosis for rare diseases using advanced data analysis

  This study is working to make it easier for doctors to diagnose rare diseases faster by creating a helpful online resource that gathers the latest information about these conditions, especially those caused by new gene mutations, so patients can get the answers they need more quickly.

  NIH research University of Texas Hlth Sci Ctr Houston · Houston, United States · NIH-10922807

• Understanding and treating rare viral infections in newborns

  This study is working to improve care and treatment options for babies born with viral infections like CMV and herpes by bringing together 28 research sites to share knowledge and find better therapies.

  NIH research University of Alabama at Birmingham · Birmingham, United States · NIH-10915383

• Identifying genetic causes of rare diseases in children using advanced DNA sequencing

  This study is looking to find hidden genetic clues that might explain rare brain development disorders in kids by analyzing DNA from 500 affected children and their parents, so families can better understand their child's condition.

  NIH research Hudson-Alpha Institute for Biotechnology · Huntsville, United States · NIH-10881397

• A new video platform to help diagnose and treat rare diseases.

  This study is testing a new video platform called the Clinical Picture Maker that helps people with rare disorders, like SCN2A-related conditions, share their symptoms and daily experiences with doctors, making it easier and faster for them to get the right diagnosis.

  NIH research Tiranoff Productions, LLC · New York, United States · NIH-10759930

• Improving research and care for rare diseases in children

  This study is all about helping kids with rare diseases by making it easier to understand, diagnose, and treat these conditions, so we can improve their care and outcomes.

  NIH research Cincinnati Childrens Hosp Med Ctr · Cincinnati, United States · NIH-10664853

Related topics

Quick answers

How many Rare Diseases clinical trials are recruiting right now?

34, as of November 12, 2026. We update this list each time we refresh our data from ClinicalTrials.gov.

Where are these trials running?

In 12 countries. The most sites are in France (7 trials), Italy (7 trials), Germany (6 trials), United States (6 trials), Argentina (1 trial). Each study page lists its sites and which ones are recruiting.

How do I join one?

Open a study, check the "Is this trial a fit for you?" section, then contact the study team listed on the page. They will ask a few screening questions. Asking is free and does not commit you to anything. Talk it over with your doctor first.

Find the studies that fit you

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