Clinical trials
Rare Genetic Disease clinical trials
Below are recruiting rare genetic disease clinical trials, each written for real people, not researchers. We’re tracking 58 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT06368726Enrolling by invitationPhase 1
Brain stimulation for kids with autism and genetic changes
This trial tests a gentle brain stimulation treatment called tDCS for children with autism or related conditions who also have certain genetic changes. It may help improve symptoms if your child meets the specific health and birth history requirements.
Albuquerque, New MexicoAges 6–11 - NCT06360913Recruiting
Blood and urine test for rare metabolic diseases
This study uses a simple blood spot and urine test to look for chemical signs of rare metabolic diseases. It aims to improve early detection and understanding of these conditions across all ages, including healthy individuals.
BrusselsAges 1 day–99 years - 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 - 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 - NCT05589714Recruiting
Study your rare eye gene and track retinal disease over time
This study builds a registry and tracks the natural history of rare retinal dystrophies while also testing people for disease-causing gene variants. It may help researchers better understand what causes retinal degeneration and how it progresses.
Little Rock, ArkansasAges 4 years+ - 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 - NCT03305835Recruiting
Genetic testing for inherited kidney stone causes
This study uses genetic testing to look for inherited (“monogenic”) reasons some people get kidney stones. It may help explain the cause of stones and calcium-related problems, which can guide future care for you or your family.
Rochester, MinnesotaAges Any age - NCT06938542Enrolling by invitation
Palliative care needs for kids with rare diseases
This study asks children with rare diseases and their families about what kind of palliative care (comfort and support) they need. It aims to understand how to better help families through their child's illness.
Washington D.C., District of ColumbiaAges 1–99 - NCT03854318Recruiting
Study of families with suspected RUNX1 gene changes
This study follows people who have a known or suspected RUNX1 gene variant linked to FPDMM-like features. It may help improve understanding of the gene, and participants may contribute samples that researchers use for genetic testing and research.
Bethesda, MarylandAges 1 day–100 years - NCT07206095Recruiting
Better diagnosis for inherited red blood cell diseases
This trial aims to improve how doctors diagnose rare inherited anemias, including sickle cell disease and other conditions that destroy red blood cells. It may help if you have a confirmed or suspected diagnosis but need more clarity through advanced testing.
Barcelona, BarcelonaAges Any age - 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 - NCT05913843Recruiting
Study how ancestry may affect facial features in rare genetic conditions
This study looks at how a person’s ancestry might influence the facial appearance seen in rare inherited (genetic) diseases. You may be considered if you have unusual physical signs and doctors suspect a genetic cause.
TaipeiAges Any age - NCT02504879Recruiting
Study of melorheostosis progression and genetic causes
This study follows adults with suspected or confirmed melorheostosis to understand how the condition develops and what outcomes to expect. It may help researchers better understand the disease and its genetic factors.
Bethesda, MarylandAges 18–90 - NCT07314736Recruiting
Study on values and ethics for ultra-rare diseases
This study aims to understand the perspectives of parents, caregivers, family members, and professionals involved with children who have ultra-rare genetic disorders. It uses interviews or focus groups to explore ethical and value-based questions.
Memphis, TennesseeAges Any age - NCT05810181Recruiting
Interviews to improve choices about gene therapy for rare diseases
This study uses one-on-one interviews to learn what families and clinicians need to make decisions about gene therapy for rare diseases. The goal is to create or improve decision tools that make gene therapy information easier to understand and act on.
Memphis, TennesseeAges 8 years+ - 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+ - 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+ - 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 - NCT04463316Recruiting
Clinic study for people with rare genetic conditions
This study is for people who have a rare syndrome or rare congenital condition and are seen at a rare-disease clinic. It aims to better understand these conditions and how care works in a team setting, which may help guide future treatment decisions.
Rotterdam, South HollandAges 18 years+ - 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 - 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 - NCT06725901Recruiting
Platform to support genetic diagnosis in children
This trial is building a platform to help doctors diagnose rare genetic diseases in children. It asks neuropediatricians at a specific hospital to share their experience and help improve the process of referring kids to genetic specialists.
Valparaíso, ValparaisoAges Any age
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Common questions
- Are there clinical trials for rare genetic disease?
- Yes. Clin2 currently lists 58 recruiting rare genetic disease 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 genetic disease 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 genetic disease 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.