Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- Cystic Fibrosis (CF)37
- Cardiac Amyloidosis35
- Huntington Disease32
- Lynch Syndrome32
- Heart Failure31
- Retinitis Pigmentosa31
- Bronchopulmonary Dysplasia30
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)27
Leading sponsors
- Assistance Publique - Hôpitaux de Paris62
- Boston Children's Hospital42
- National Institute of Allergy and Infectious Diseases (NIAID)38
- Mayo Clinic37
- Children's Hospital Medical Center, Cincinnati33
- Hospices Civils de Lyon32
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Riphah International University26
- Massachusetts General Hospital23
- National Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT04374305RecruitingPhase 2
Study tests targeted treatments for NF2 tumors
This trial studies targeted medicines in people with neurofibromatosis type 2 (NF2) who have growing tumors on scans. The goal is to slow tumor growth and improve symptoms by testing different drug combinations in separate study groups.
Los Angeles, CaliforniaAges 12 years+ - NCT04388969Recruiting
Ambroxol study for Gaucher disease and Parkinson symptoms
This trial looks at ambroxol, a medicine, for people who have Gaucher disease and Parkinson disease that is linked to Gaucher. If you fit the condition group, the study may help doctors learn whether ambroxol can improve Parkinson-related symptoms in this specific situation.
Jerusalem, Please Select...Ages Up to 100 years - NCT04390646RecruitingPhase 2/Phase 3
Hormone treatment to study thinking in Down syndrome
This trial studies whether a GnRH hormone treatment can improve thinking and memory in people with Down syndrome. It also checks safety and whether the treatment affects brain-related changes seen on MRI.
Lausanne, Canton of VaudAges 16–50 - NCT04393701Recruiting
Testing newborn blood spots to check for rare storage diseases
This pilot study tries a systematic way to look for several rare “lysosomal storage” diseases in newborns using a specialized lab test on routine blood samples. It may help detect these conditions earlier so treatment can start sooner if needed.
CaenAges 1 day–4 days - NCT04395495Recruiting
RASopathy disorder study biobank for kids and families
This study collects and stores health samples and information from people with RASopathy conditions (like Noonan or Costello syndromes) and from family members who may not have the condition. It helps researchers understand these disorders and supports future studies that could lead to better care.
Cincinnati, OhioAges Any age - NCT04395196RecruitingPhase 2
Prenatal choline for pregnancy after alcohol exposure
This trial tests whether taking a choline supplement during pregnancy can reduce harmful effects on the baby when a person drinks heavily while pregnant. It may help support healthier pregnancy and baby outcomes for those who meet the study’s drinking and nutrition criteria.
Cape Town, Western CapeAges 18–45 - NCT04402086Recruiting
Rheumatology patient and skin sample registry study at Yale
This study builds a health record and blood/skin sample collection for people with rheumatic autoimmune diseases who are getting care at Yale. It may help researchers understand these conditions and develop better tests or treatments over time.
New Haven, ConnecticutAges 18–99 - NCT04404530Recruiting
Study nutrition changes from Palynziq in adults with PKU
This study looks at how taking Palynziq affects your nutrition and health in people with phenylketonuria (PKU). You might benefit by getting careful monitoring while researchers learn how the medicine changes diet-related measurements.
Atlanta, GeorgiaAges 16 years+ - NCT04416178Recruiting
Survey and interviews for families affected by sickle cell disease
This study collects feedback through surveys, interviews, and focus groups from people affected by sickle cell disease. Your input helps the research team improve how genomic and gene-therapy information and needs are understood for patients and caregivers.
Memphis, TennesseeAges 13 years+ - NCT04420156Recruiting
Study to understand eye disease risk in premature babies
This study looks at newborn eye exams and genetic information to better understand why some premature infants develop a serious vision problem called ROP. You may be invited because your baby needs routine eye screening or is being moved for specialized eye care.
Palo Alto, CaliforniaAges Up to 1 year - NCT04422847Recruiting
3D printed tools to help anesthesia for children with cleft face
This study uses computer planning and 3D printed models to help the anesthesia team manage breathing and airway safety during a child’s cleft-related surgery. It may improve planning and safety by matching the anesthesia plan to your child’s anatomy.
Brno, Jihomoravská KrajAges Up to 2 years - NCT04423484Recruiting
Treatment plan study for newly diagnosed one kidney tumor
This trial looks at what treatment recommendations work best for children with a nephroblastoma (Wilms tumor) that is in only one kidney and has not been treated yet. It may help doctors choose the best next steps for care while the child’s overall health supports treatment.
OuagadougouAges 6 months–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 - NCT04440254Recruiting
Long ECG monitoring for Fabry disease heart rhythm
This study checks how your heart’s electrical rhythm looks over a longer period using an ECG (a heart rhythm recording) in people with Fabry disease. It may help doctors understand heart rhythm changes better so future care can be more tailored and safer.
Paris, ParisAges 18 years+ - NCT04440280RecruitingPhase 2
NAC drops to improve cornea disease during cataract surgery
This Phase 2 study tests whether eye drops containing a medicine called N-acetylcysteine (NAC) can reduce damaging “reactive oxygen” in people with advanced Fuchs’ endothelial corneal dystrophy (FECD). It involves people who need a special cornea transplant (DMEK) at the same time as cataract surgery, aiming to improve cornea healing and vision.
Boston, MassachusettsAges 21 years+ - NCT04449068Recruiting
Tourette research using records from deep brain stimulation patients
This study is collecting information about people with severe Tourette syndrome who are not adequately helped by medication and may receive deep brain stimulation. It helps researchers understand outcomes and care patterns for this treatment over time using an observational database.
ParisAges 15 years+ - NCT04452721Recruiting
Predicting outcomes for a chest brace in pectus carinatum
This study looks at what factors help predict how well a dynamic compression brace works for people with pectus carinatum (a chest wall that sticks out). It uses past patients’ records and later patients to see which early details relate to better or worse results.
Saint-EtienneAges 6–40 - NCT04454216Recruiting
Liver enzyme gene study for GSD VI or GSD IX
This study looks at the natural history (how the illness typically progresses) in people with GSD VI or GSD IX. It may help doctors better understand disease patterns, which can support future treatments.
Durham, North CarolinaAges birth–90 years - NCT04455906Recruiting
Study why some people with eczema get more severe
This study looks at why disease tends to be more severe in some people with atopic dermatitis (eczema), especially those with a specific genetic change in the IL-4 receptor (IL-4Ra). The results may help explain what drives flare-ups and could guide better treatments in the future.
Boston, MassachusettsAges 6–65 - NCT04459689Recruiting
COVID-19 study for people with primary immune deficiencies
This study looks at COVID-19 experiences in people who have a primary immune deficiency (a long-term immune problem) and who have had COVID-19. It may help researchers better understand how COVID-19 affects people with these conditions.
ParisAges birth+ - NCT04461444Recruiting
Cohort study for Bardet-Biedl and Alström syndromes
This study follows people with Bardet-Biedl syndrome (BBS) or Alström syndrome (ALMS) to spot early vision, metabolic (body chemistry/energy), and kidney problems. You may be asked to have clinical checks over time to help researchers better understand how these complications develop.
StrasbourgAges 4 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+ - NCT04464655Recruiting
10-minute heart MRI protocol for people with heart conditions
This study uses a short, 10-minute heart MRI to check how well it works for people who need a clinically indicated heart scan. It may help streamline heart MRI testing, making exams faster while still providing useful heart information.
Montreal, QuebecAges 18 years+ - NCT04467671RecruitingPhase 2
Tested new blood vessel graft for a heart surgery
This trial studies whether a newer “tissue-engineered” blood vessel graft is safe and works well in children who need a specific heart surgery connection outside the heart. It may help by offering a new type of graft, but your team will screen for size and medical factors first.
Columbus, OhioAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 we cover in this area in total.
- What does “Genetic & congenital” cover here?
- Inherited and congenital conditions present from birth or written into the genes. We group each study into genetic & congenital based on the conditions it studies, so you can scan the whole therapeutic area at once and drill into a specific condition.
- How do I find a genetic & congenital trial near me?
- Use the search to filter genetic & congenital studies by location and eligibility. Every Clin2 trial page explains the criteria in plain English and offers a short, optional pre-screen for a fit read — the study team makes the final decision.
Other specialties
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov; specialty groupings are derived from each study’s conditions. Talk with your doctor about whether a specific trial is right for you.