Clinical trials
Rare Disorders clinical trials
Below are recruiting rare disorders clinical trials, each written for real people, not researchers. We’re tracking 38 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT07786142Recruiting
Moving from pediatric to adult care for rare hormone conditions
This study tests a program to help young adults with rare hormone or gland conditions move from pediatric to adult medical care. If you are 18 or older and being treated at a pediatric endocrinology clinic, this program may help make your care smoother.
DaeguAges 18 years+ - NCT01793168Recruiting
Rare disease registry and history study
This study keeps a registry (a structured list) of people with rare diseases and may also track how the condition changes over time. It can help researchers better understand rare illnesses and find gaps in care, which may improve future treatments.
Sioux Falls, South DakotaAges Any age - NCT07348926Recruiting
Family well-being & independence in rare genetic disorders
This study looks at how a child's ability to function independently affects the well-being of their family. It is for caregivers of young children (0–4 years) with rare genetic disorders who have been in physiotherapy for at least 6 months.
IstanbulAges 18–65 - NCT02285582Recruiting
Rare blood disorder registry for histiocytic conditions
This study is a registry that collects information about people diagnosed with rare histiocytic disorders. It helps doctors better understand these conditions over time and may improve future care.
Birmingham, AlabamaAges Any age - NCT07650799Recruiting
Using artificial intelligence to help diagnose rare diseases
This study is testing whether an artificial intelligence (AI) tool can help doctors diagnose rare diseases that have been hard to identify. If you join, the AI will review your medical information and previous test results to suggest possible diagnoses, which might speed up finding the right answer for you.
CangzhouAges birth+ - NCT07329257Recruiting
Project PENGUIN: Study of rare brain development disorders
This study looks at rare and ultra-rare conditions that affect brain development. It aims to learn more about what causes these conditions. You may join if you or your child have a diagnosed or suspected neurogenetic disorder.
Columbia, MissouriAges Up to 99 years - 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 - NCT06729554Recruiting
Education and support program for rare disease kids
This study tests a targeted educational and support program for children and teens with rare diseases. It helps families learn more about the condition and cope better with day-to-day challenges.
Graz, AustriaAges 5–20 - NCT04398628Recruiting
Study of non-cancer blood disorders in people with bleeding or clotting
This study follows people with inherited or acquired non-cancer blood disorders to better understand symptoms, causes, and how different treatments work over time. You may be placed into a disorder-specific group, depending on your diagnosis and testing results.
Phoenix, ArizonaAges Any age - 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 - 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 - NCT07039084Recruiting
Tablet for helping children with rare genetic conditions communicate
This study tests whether a speech-generating tablet (like an iPad with a communication app) can help children with rare genetic conditions who are minimally verbal (using fewer than 50 words) to communicate better. If your child fits the criteria, they could get a device and training to see if it helps them express themselves more easily.
Melbourne, VictoriaAges 3–12 - 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 - 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 - NCT06250595Recruiting
European rare blood disorder registry
This study is building a registry of people with rare blood diseases. By joining, you help doctors learn more about these conditions and improve future care.
Barcelona, CataloniaAges Up to 100 years - NCT03158090Recruiting
Study of treatment patterns for acromegaly over time
This study follows people with acromegaly to better understand how treatments are used in real life and how well they work over time. It may help improve future treatment choices by comparing outcomes across different care patterns.
Guangzhou, GuangdongAges 18–75 - NCT06072079Enrolling by invitation
Structural chromosome changes and brain disorders
This trial is for people who have or might have a rare disease or a change in their chromosomes. The study aims to learn more about how these changes relate to brain disorders.
StockholmAges Any age - NCT02743845Recruiting
Find genetic answers for rare, possibly inherited conditions
This trial looks for gene changes that may explain rare conditions, even when the diagnosis is not fully understood. It may help families who have a rare condition or who are related to someone with one.
Boston, MassachusettsAges Any age - NCT01087320Recruiting
Gene discovery through genome sequencing for rare disorders
This study uses advanced gene sequencing to look for the genetic cause of rare diseases that haven't been explained yet. You or a family member might join to help find a diagnosis and contribute to medical research.
Bethesda, MarylandAges 4 weeks–99 years - NCT06213402Recruiting
European registry for rare anemia disorders
This study is creating a European registry (database) to collect information about people with rare anemia disorders. By joining, you help researchers better understand these conditions and improve care for yourself and others.
Barcelona, CataloniaAges birth–100 years - 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+ - 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+ - NCT06708468Recruiting
Personalized training for rare neuromuscular disorders
This study tests a personalized exercise program for people with rare neuromuscular diseases like FSHD, DM1, or CMT to see if it improves their physical function and quality of life.
BergenAges 18–70
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Common questions
- Are there clinical trials for rare disorders?
- Yes. Clin2 currently lists 38 recruiting rare disorders 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 disorders 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 disorders 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.