Autosomal genetic disease

This trial tested a vaccine called PD1-Vaxx given before surgery to people with a specific type of colorectal cancer (MSI-high). The goal was to see if the vaccine could shrink tumors, measured by how many cancer cells remained after treatment. Only 3 people took part, and the st…

This pilot study tested whether propranolol, a beta-blocker, could shrink or stabilize kidney angiomyolipomas in people with tuberous sclerosis. Only 2 participants were enrolled before the trial was terminated, so the results are very limited. The goal was to find a less invasiv…

This phase 2 trial investigates whether polyethylene glycol (a laxative) can reduce intestinal inflammation in children with cystic fibrosis. The study includes children aged 4 to 17 with cystic fibrosis and pancreatic insufficiency who have elevated fecal calprotectin (a marker …

This study tested a drug called siplizumab alongside a stem cell transplant for people with severe sickle cell disease. The goal was to see if it could prevent the body from rejecting the new cells and reduce a serious side effect called graft-versus-host disease. Only one person…

This early-stage study tested a new drug called PF-07284892, alone or with other medicines, in people with advanced solid tumors that had specific genetic changes. The goal was to find the safest dose and check for side effects. The study was stopped early, so results are limited…

This early-stage trial tested a drug called DS-2325a in 9 adults with Netherton syndrome, a rare genetic condition causing severe skin redness, scaling, and allergies. The study aimed to check safety and whether the drug could help control the disease. However, the trial was term…

This early-phase trial tested combinations of the drugs bevacizumab and temsirolimus, sometimes with valproic acid or cetuximab, in 154 people with advanced cancers or certain non-cancerous but progressive diseases. The main goal was to find safe doses and look for any signs that…

This early-phase trial tested the drug plinabulin combined with radiation and immunotherapy in 19 people with advanced cancers (like lung, bladder, or melanoma) that had stopped responding to standard immunotherapy. The goal was to see if the combination was safe and could shrink…

This early-phase trial tested whether glycerol phenylbutyrate (Ravicti), a drug already used for urea cycle disorders, could help restore chloride transport in the nasal cells of adults with cystic fibrosis. The study enrolled 16 participants and compared low-dose Ravicti to a pl…

This study tested a single dose of an inhaled gene therapy called BI 3720931 in adults with cystic fibrosis who cannot take standard CFTR modulator drugs. The trial was in two phases and included only 5 participants. It was terminated early, so we do not have full results on safe…

This study tested a drug called TPN-101 (censavudine) in people with Aicardi-Goutières syndrome, a rare genetic disorder that causes severe brain inflammation. The trial enrolled only 4 participants and aimed to see if the drug could reduce immune system overactivity and check fo…

This study looked at the long-term safety of the drug osivelotor in people with sickle cell disease who had already taken it in an earlier trial. The goal was to track side effects and blood changes over time. However, the study was terminated early, so the full safety picture is…

This study tested a medicine called spesolimab for people with Netherton syndrome, a rare genetic skin condition causing severe redness and scaling. About 43 people aged 12 and older took part, receiving either the drug or a placebo. The goal was to see if spesolimab could reduce…

This study tested a new amino acid formula called PKU GOLIKE in people aged 16 and older with phenylketonuria (PKU). The goal was to see if it could better control daily swings in blood phenylalanine levels compared to standard treatment. The study was stopped early, so results a…

This study tested a daily pill called voxelotor in children aged 2 to 14 with sickle cell disease who had slightly abnormal blood flow in the brain. The goal was to see if the drug could improve that blood flow and reduce stroke risk. The trial was stopped early, but the results …

This early-stage trial tested a new drug called DFF332, which targets a protein (HIF2α) that helps some cancers grow. The study included 40 adults with advanced clear cell renal cell carcinoma or other cancers with specific gene changes. DFF332 was tested alone and in combination…

This study tested a new approach using a virus that attacks cancer cells (oncolytic immunotherapy) along with two standard drugs (atezolizumab and bevacizumab) in people with advanced colorectal cancer that had stopped responding to other treatments. The trial was stopped early a…

This early-stage trial tested a drug called nomlabofusp (CTI-1601) in 18 adolescents and children with Friedreich's ataxia, a rare genetic disease that affects movement and coordination. The goal was to check safety and how the body processes the drug. However, the study was term…

This small pilot study tested whether imatinib, a drug used for certain cancers, could reduce painful blockages in blood vessels (vaso-occlusive crises) in people with sickle cell anemia. Seven participants aged 18–25 took the drug for 6 months while researchers measured changes …

This study tested leflunomide, a drug used for rheumatoid arthritis, in 3 adults with MEN1 syndrome—a genetic condition that raises the risk of multiple tumors. The goal was to see if 6 months of daily leflunomide could shrink or stabilize tumors. However, the trial was terminate…

This study tested a combination of two drugs (regorafenib and pembrolizumab) for people with a specific type of advanced colorectal cancer called MSI-H. The goal was to see if the combination worked better than pembrolizumab alone. The trial was stopped early after enrolling only…

This was a first-in-human study testing a single dose of an experimental drug called GSK4172239D in 11 people with sickle cell disease. The main goals were to check safety and how the drug moves through the body. The study was terminated early, so results are limited.

This study tested a gene therapy called SRP-9003 for people with limb-girdle muscular dystrophy type 2E (LGMD2E), a rare genetic disease that causes muscle weakness. The treatment aimed to deliver a working gene to muscle cells to help them produce a missing protein. Only 6 peopl…

This early-phase trial tested a gene-edited stem cell product called OTQ923 in 4 people with severe sickle cell disease. The goal was to boost fetal hemoglobin to reduce painful crises and other complications. The study was terminated early, so we have limited data on safety and …

This study followed 265 people with sickle cell disease who were taking Oxbryta (voxelotor) as part of their normal care. Researchers wanted to see how the drug affected hemoglobin levels, sickle cell complications, and overall health over up to 5 years. The study was observation…

This study tested an experimental drug called ARO-ENaC in healthy volunteers and people with cystic fibrosis. The goal was to see if it is safe and helps lung function. The trial was stopped early, so results are limited.

This study looks at the long-term safety of inclacumab in people with sickle cell disease who have already taken the drug in a previous study. It tracks side effects and how often pain crises occur. The goal is to see if long-term use is safe and helps control the disease.

This study looked at whether voxelotor, a daily pill for sickle cell anemia, can improve blood flow and oxygen supply to the brain in children. The trial planned to enroll 22 participants aged 4 to 30 years with a severe form of sickle cell disease. However, the study was termina…

This phase II trial tested an experimental drug called roscovitine in 36 adults with cystic fibrosis who have a common genetic mutation and a chronic lung infection. The goal was to check the safety of different doses given in short cycles. The study was terminated early, so its …

This early-phase trial tested the drug AR-42 in 7 adults with vestibular schwannoma or meningioma brain tumors who were already scheduled for surgery. Participants took AR-42 pills for about 3 weeks before their operation. The main goal was to see if the drug could lower a protei…

This small Phase 1 trial tested growth hormone in 5 adults with cystic fibrosis who were underweight. The goal was to see if the hormone could help them gain weight and muscle, improve their quality of life, and monitor effects on lung function and diabetes. The study was termina…

This study tested a sirolimus cream (0.2% and 0.4%) applied daily for 12 weeks to treat facial angiofibromas in children aged 2-21 with tuberous sclerosis complex. The goal was to see if the cream could safely reduce the size and redness of these skin growths. The trial was termi…

This study looked at the long-term safety of voxelotor (a daily pill) in 179 people with sickle cell disease who had already taken it in a previous trial. Participants continued taking the drug and were monitored for side effects and complications like pain crises. The trial was …

This study looked at the long-term safety of the drug voxelotor in 162 people with sickle cell disease who had already taken it in earlier trials. Everyone received voxelotor once daily. The main goal was to track side effects. The trial was terminated early, so the full safety p…

This early-phase trial tested a new immunotherapy approach for children with DIPG, a rare and aggressive brain stem tumor. After standard radiation and chemotherapy, patients received special vaccines and immune cells designed to attack the tumor. The study was small (11 particip…

This study tested a drug called REC-2282 in people aged 12 and older with progressive meningiomas (brain tumors) linked to NF2 gene mutations. Participants took the drug or a placebo three times a week in cycles. The goal was to see if the drug could slow tumor growth. The trial …

This phase 3 study tested the drug ganaxolone as an add-on treatment for seizures in children and adults with tuberous sclerosis complex (TSC). The trial was open-label, meaning everyone received the drug, and it included 117 people who had previously been in related studies. The…

This study looked at whether taking venglustat earlier versus later could help people with a fast-progressing form of polycystic kidney disease. The trial was stopped early because the main study found the drug did not work well enough. Only 24 people took part, so no clear concl…

This was a very early (Phase 1) study testing a gene therapy called SRP-6004 for people with limb girdle muscular dystrophy type 2B/R2, a rare muscle-weakening disease. The goal was to see if a single IV infusion of the therapy is safe and can help the body produce a missing prot…

This early-stage trial tested a gene therapy called SRP-9004 in just 4 people with limb girdle muscular dystrophy type 2D/R3, a rare muscle-weakening disease. The main goal was to check safety, not effectiveness. The study was terminated early, so results are limited.

This study tested whether a non-invasive breathing machine (ventilation) could prevent acute chest syndrome, a serious lung complication, in children with sickle cell disease who were hospitalized for severe pain. The standard prevention is spirometry, which requires active deep …

This study tested whether propranolol, a beta-blocker usually used for heart conditions, can reduce nosebleeds in people with hereditary hemorrhagic telangiectasia (HHT), a genetic disorder that causes abnormal blood vessels. Fifteen adults with HHT took either propranolol or a p…

This study tested a nasal spray containing a strong painkiller (sufentanil) for adults with sickle cell disease experiencing a painful crisis. The goal was to see if it could provide faster relief than the standard gas mixture (EMONO) before giving morphine through an IV. The tri…

This study tested whether a mindfulness program (including meditation, body scans, and gentle yoga) could help people with implanted heart devices like ICDs or pacemakers feel less anxious, stressed, and depressed. The study planned to enroll 34 adults who had recently received s…

This study tested a cannabidiol (CBD) oral solution in children under 2 years old with tuberous sclerosis complex, Dravet syndrome, or Lennox-Gastaut syndrome who had uncontrolled seizures. The goal was to see if CBD is safe and can reduce seizures. However, the study was termina…

This study aimed to collect real-world data on Netherton Syndrome, a rare genetic skin disorder. Researchers planned to follow 4 participants over 52 weeks, measuring skin severity and other symptoms. The study was terminated early, so results are limited.

This early-stage study is testing a new drug called pociredir in 24 adults with sickle cell disease. Researchers want to see how the drug moves through the body and whether taking it with food changes its effects. The goal is to gather safety and dosing information, not to treat …

This study collects small skin samples from children aged 2 to 17 with Costello syndrome or a related condition. Researchers will analyze the cells to understand how a mutation in the HRAS gene affects energy use and mitochondria. The goal is to learn more about the disease's und…

This study looked at whether MRI scans can detect changes in the lungs of people with cystic fibrosis as well as CT scans do. CT scans use radiation, so finding a reliable alternative like MRI could mean safer monitoring over time. The study included 212 patients aged 8 and older…

This study looks at adults with phenylketonuria (PKU) who were diagnosed as newborns and treated with a special diet. Researchers want to see if how long and how strictly they followed the diet as children affects their intelligence (IQ) as adults. The goal is to use this informa…

This study aimed to find out how common non-tuberculous mycobacteria (NTM) infections are in people with cystic fibrosis in France. Researchers collected sputum and blood samples from 848 participants to test for NTM using culture and a new blood test. The study was terminated ea…

This study is for people with cystic fibrosis and their family members. Its goal is to collect medical information and biological samples during regular clinic visits. These will be stored and used by researchers to learn more about how cystic fibrosis affects the body and how it…

This early-stage study looked at how two common drugs (carbamazepine and itraconazole) change the levels of radiprodil in the blood of 30 healthy adults. The goal was to understand safety and dosing for future use in neurological conditions like tuberous sclerosis. However, the s…

This study tested whether artificial intelligence can detect and classify abnormal lung sounds in people with cystic fibrosis, COPD, or pulmonary fibrosis. Researchers recorded lung sounds with an electronic stethoscope during routine checkups and analyzed them using AI. The goal…

This study aimed to see if a new type of genetic therapy could fix a specific problem in the CFTR gene that causes cystic fibrosis. Researchers took nasal and rectal cell samples from 16 patients and tested the therapy in the lab. The study was terminated early, so we don't have …