Clinical trials
Rare Diseases clinical trials
Below are recruiting rare diseases clinical trials, each written for real people, not researchers. We’re tracking 103 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT06491615Recruiting
eyeGENE study: genetics of rare eye diseases
This study collects DNA samples and medical information from people with rare inherited eye diseases and their close relatives. The goal is to learn more about the genetic causes of these conditions and improve diagnosis and care.
Bethesda, MarylandAges 1 day–120 years - NCT07575347Recruiting
Gum Disease and Rare Kidney Disorders Study
This study explores whether people with certain rare kidney diseases or chronic kidney problems have more gum disease than others. Researchers will examine your teeth and gums to understand the connection and help improve care for people with kidney conditions.
BucharestAges 18 years+ - NCT07142343RecruitingPhase 4
Testing pozelimab safety in young children with CHAPLE disease
This trial tests if pozelimab is safe for children aged 1 to 5 with CHAPLE disease, a rare condition that causes swelling, blood clots, and protein loss. If your child has active CHAPLE disease, this study may offer a new treatment option.
IstanbulAges 1–5 - NCT06935578Recruiting
A network for rare brain vessel diseases
This study creates a large Italian network to help diagnose and understand rare cerebrovascular diseases like CADASIL, Fabry's disease, and Moyamoya. It aims to improve care for people with these conditions.
Acquaviva delle Fonti, BAAges 18 years+ - NCT05990179Recruiting
Screening newborns for rare diseases using genetics
This trial offers free genetic screening for rare diseases in newborns. It aims to find health conditions early so babies can get the right care sooner.
New York, New YorkAges 1 day–1 month - NCT06285500Recruiting
Single patient cancer treatment study
This study creates a unique treatment plan based on the genetic changes found in your tumor. A team of experts will review your cancer's molecular profile to decide the best next therapy for you, even if standard options are not clear.
Toronto, OntarioAges 18 years+ - NCT07102966Recruiting
Genetic study for babies with birth defects in Texas
This study looks for genetic causes of birth defects in newborn babies. If your baby has a suspected genetic condition and other tests haven't found a clear cause, this study may help find answers.
Houston, TexasAges 1 day–3 months - NCT06549218Recruiting
Genetic newborn screening for rare diseases
This study tests a new way to screen newborns for rare genetic diseases using a blood sample. It aims to find treatable conditions early so that babies can get care sooner.
DijonAges Up to 2 years - NCT05139797Recruiting
AI-guided heart ultrasound screening for suspected amyloidosis
This study tests whether an artificial-intelligence system can help decide who should get a special heart workup for a rare disease called cardiac amyloidosis. If you have signs that make doctors suspect this, the AI-guided ultrasound screening may help find it sooner.
Los Angeles, CaliforniaAges 18 years+ - NCT07247279Recruiting
Study of myasthenia gravis treatments in Russia
This study tracks how generalized myasthenia gravis (a condition that causes muscle weakness) is treated in Russia. By looking at real-world data, researchers hope to learn more about which treatments work best for people like you.
Kazan'Ages 18 years+ - NCT04429750Recruiting
Cord resuscitation approach for babies with diaphragmatic hernia
This study looks at a specific way to support a newborn’s breathing right after birth when they have congenital diaphragmatic hernia (a birth condition affecting the diaphragm). If you qualify, the team will compare their resuscitation approach to standard care to see if it helps babies in the delivery room.
AmiensAges 8 months–9 months - NCT05046444Recruiting
Testing tricky blood cancer diagnoses with advanced DNA sequencing
This study uses advanced DNA sequencing to figure out unclear or unusual blood (hematologic) conditions when standard tests are not enough. It may help your care team reach a more accurate diagnosis by better understanding what’s driving your illness.
MunichAges 18–99 - NCT05203250Recruiting
Registry for people treated with heavy particles at CNAO
This registry collects information from people who received heavy particle treatments at the CNAO center. It helps researchers understand outcomes over time, as long as you can understand the study and agree in writing.
PaviaAges Any age - NCT05702476Recruiting
Non-invasive 3D scan study for Marfan face features
This study uses a non-invasive 3D scan to better measure facial features in people with Marfan syndrome. It may help researchers describe face differences more accurately, without needles or surgery.
San Donato Milanese, LombardyAges Any age - NCT05715203Recruiting
Study of how stiff the aorta is in inherited aortic conditions
This study looks at how “stiff” the aorta (the body’s main artery) is in people with inherited aortic conditions. It may help researchers better understand the condition and how it progresses over time.
San Donato Milanese, LombardyAges Any age - NCT05794217Recruiting
Banking donated blood samples for future medical research
This study collects and stores blood/blood-cell samples so researchers can use them for approved future studies. You would be tested for certain infections and health measurements to make sure the collection procedure is safe for you.
Waltham, MassachusettsAges 18–89 - NCT05996731Recruiting
Using RNA tests to help diagnose rare genetic diseases
This study uses RNA sequencing to find genetic causes of rare diseases that standard DNA tests might miss. It may help people who have symptoms of a rare disease but no clear genetic diagnosis yet.
Ranica, BGAges Any age - NCT06265103Recruiting
Epilepsy learning healthcare system registry
This is a registry study that collects information from people being treated for epilepsy at participating healthcare centers. The goal is to improve care by learning from real-world patient data.
Phoenix, ArizonaAges Any age - NCT06399952Recruiting
Natural history study for Baker Gordon syndrome
This study follows people with Baker Gordon syndrome over time to better understand the condition. Participants and their caregivers share medical records and complete tests and questionnaires.
Columbia, MissouriAges birth–99 years - NCT06875089Recruiting
Newborn gene screening study in France
This study is testing a new way to screen newborns for certain health conditions by analyzing their DNA from a small blood sample. It aims to see if parents find this type of screening acceptable and helpful.
AngersAges birth–4 weeks - NCT07147465Recruiting
Using gene sequencing to improve cancer care
This study looks at how well a special type of gene testing (called sequencing) works for people with cancer. It aims to learn if this test helps doctors choose better treatments.
LyonAges Any age - NCT07163260Enrolling by invitation
Study on haemophilia care in Asia and Pacific
This study looks at the experiences of people with haemophilia, their caregivers, and doctors in Asia and the Pacific. The goal is to understand current care and find ways to improve it. You may be asked about your treatment and daily life.
Bangalore, KarnatakaAges Any age - NCT06144957Enrolling by invitation
SLC13A5 deficiency natural history study (US only)
This study follows people with SLC13A5 deficiency (a rare genetic condition that affects brain development) to learn more about the disease over time. It collects health information, assessments, and samples to help understand the condition and plan future treatments.
Palo Alto, CaliforniaAges Any age - NCT04681781Enrolling by invitation
Remote study of SLC13A5 deficiency history
This study follows people with SLC13A5 deficiency to better understand how the condition changes over time, using surveys and clinical check-ins done remotely. If you (or your child) have this genetic condition, it may help researchers learn what symptoms to expect and how to track them.
Palo Alto, CaliforniaAges Any age
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Common questions
- Are there clinical trials for rare diseases?
- Yes. Clin2 currently lists 103 recruiting rare diseases studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a rare diseases trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a rare diseases trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.