Developmental defect during embryogenesis

This Phase 3 study tests whether a gel containing patidegib can lower the number of new basal cell carcinomas (a type of skin cancer) on the face of adults with Gorlin syndrome. Participants apply the gel or a placebo to their face twice daily for a year. The study will compare h…

This early-phase study tests a new drug called ERAS-601, alone or with other cancer treatments, in adults with advanced solid tumors that have not responded to standard therapies. The main goals are to find safe doses and check for side effects. About 90 participants will take pa…

This trial tests whether a new intraoral device, the Ertty Gap III, can correct skeletal Class III malocclusion (underbite) in growing children aged 9–12 as effectively as the standard facemask therapy. The study measures changes in jaw alignment using X-rays before and after tre…

This phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the dru…

This phase 2 trial tests an oral drug called ARD-101 in adults with Prader-Willi syndrome, a genetic condition that causes an unrelenting feeling of hunger. Researchers give the drug twice daily for 28 days to see if it safely reduces hyperphagia, the intense drive to eat, using …

This study tested a drug called RTA 408 (omaveloxolone) in 172 people with Friedreich's ataxia, a rare genetic disease that affects movement and coordination. The goal was to see if the drug is safe and can improve exercise ability and daily function. Participants took the drug o…

This trial tests whether repairing an isolated cleft palate at 6 months of age leads to better speech than waiting until 12 months. About 650 infants across the UK, Scandinavia, and Brazil will be randomly assigned to one of the two surgery times. Doctors will measure how well th…

This trial tests two devices, a face mask and the Ertty Gap appliance, in 30 growing patients with a deficient upper jaw (skeletal Class III malocclusion). Each patient receives one of the two devices to pull the upper jaw forward. Researchers use cone beam CT scans and 3D cephal…

This trial tests whether performing surgery within 72 hours of birth improves outcomes for female newborns with bladder exstrophy, a rare birth defect where the bladder develops outside the body. Half the participants receive surgery within 72 hours, while the other half wait unt…

This trial compares two ways of making the skin incision during upper eyelid surgery (blepharoplasty) to correct droopy or puffy eyelids. Each participant will have one eyelid cut with an electrocautery device and the other with a traditional scalpel, so the results can be compar…

This early-phase study tests an oral antiviral drug called letermovir in 12 infants born with symptomatic congenital cytomegalovirus (CMV) infection. The goal is to find the right dose and see if it safely lowers the amount of virus in the body. Babies also receive standard treat…

This trial tests whether a nasal spray containing bevacizumab, a drug typically used for cancer, can reduce frequent nosebleeds in people with hereditary hemorrhagic telangiectasia (HHT). The study enrolls 20 adults who have at least 10 nosebleeds per month. The goal is to see if…

This study tests an oral drug called TTI-0102 in 12 people with MELAS, a rare genetic disorder that causes muscle weakness, strokes, and fatigue. Participants receive either the drug or a placebo for 6 months. Researchers will measure walking ability, fatigue, and quality of life…

This early-phase study tests a new drug called E7090, alone or with other cancer medicines, in people with a common type of advanced breast cancer (ER+, HER2-). The main goal is to find safe doses and understand side effects. About 51 participants will take part to guide future r…

This trial compares two surgical tools—a standard surgical blade and a special ophthalmic knife—for cutting the Achilles tendon in children aged 2 to 5 with clubfoot. The goal is to see which tool improves ankle movement more and causes fewer problems like bleeding or infection. …

This study tests two types of pit and fissure sealants (Fisseal and Prevent Seal) applied after treating teeth with one of two remineralizing agents (Biflourid or MI Paste). The goal is to see which combination best keeps the sealant in place and prevents cavities from forming or…

This study follows 62 adults with hereditary hemorrhagic telangiectasia (HHT) who previously took pomalidomide in a clinical trial. Researchers want to see if the drug safely reduces nosebleed severity and the need for iron or blood transfusions over time. Participants take pomal…

This Phase 2b trial tests an oral drug called zagociguat in 43 adults with MELAS syndrome, a rare genetic disorder that causes fatigue, muscle weakness, and stroke-like episodes. Participants take either 15 mg, 30 mg, or a placebo daily for 12 weeks. The study measures changes in…

This trial tests whether repeatedly adding sterile fluid into the womb can help fetuses with severe kidney failure grow enough lungs to survive after birth. Pregnant women with early pregnancy kidney failure can choose to receive the infusions or just be monitored. Babies who sur…

This study tests whether a wide-spectrum nutritional supplement can improve mitochondrial function in children with autism spectrum disorder (ASD). Mitochondria are the energy factories in cells, and some children with ASD have abnormal mitochondrial activity. The trial enrolls c…

This study tests a new, minimally invasive surgical technique to repair open neural tube defects (spina bifida) in unborn babies. Instead of opening the uterus, surgeons use a tiny camera and tools inserted through small incisions. The goal is to close the spinal defect effective…

This study looked at two drugs, mirabegron and oxybutynin, in 52 children over age 3 who had surgery for posterior urethral valves. The goal was to see which drug better improves bladder and kidney function and reduces urinary tract infections. Researchers also checked safety by …

This small pilot study tested the safety and effectiveness of the oral drug sirolimus for reducing nosebleeds in people with hereditary hemorrhagic telangiectasia (HHT). Ten adults with moderate to severe nosebleeds took 2 mg of sirolimus daily for 3 months. Researchers tracked b…

This study tested whether N-acetylcysteine (NAC), an antioxidant drug, can improve motor skills and learning in children with neurofibromatosis type 1 (NF1). Twenty-five children aged 8 to 16 took NAC or a placebo for 8 weeks. The goal was to see if NAC is safe and helps with mov…

This study tested a new, less invasive surgery for children aged 4 to 10 with a stubborn clubfoot deformity called 'bean-shaped foot.' Instead of cutting bones, surgeons placed a small metal plate across a joint in the foot to gently guide growth and straighten the foot over time…

This study tested the safety of a drug called maralixibat in 27 infants under 12 months old with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC), two rare liver diseases that cause bile buildup. The drug is given as an oral solution and aims to reduce bi…

This phase 2 trial tested two drugs, selumetinib and sirolimus, in 21 people with advanced malignant peripheral nerve sheath tumors (MPNST), a rare cancer often linked to neurofibromatosis type 1. The goal was to see if the combination could shrink or stabilize tumors. The study …

This study looked at the long-term safety and effectiveness of a drug called pegunigalsidase alfa for adults with Fabry disease, a rare genetic condition. Participants received an infusion every four weeks for up to several years. The goal was to see if the drug is safe over time…

This study tested a special dental appliance to correct underbite (Class III malocclusion) in 36 children aged 7 to 12. The device combines a fixed inclined plane on the lower front teeth with rotated brackets on the upper front teeth to encourage proper jaw growth. After 6 month…

This phase 2 trial tested sodium valproate, a drug used for seizures, in 41 children with Rubinstein-Taybi syndrome (RTS), a rare genetic condition causing intellectual disability. Participants aged 6 to 21 received either the drug or a placebo for one year. Researchers measured …

This study tested a new calcium phosphate putty to repair bone gaps in the gums of 84 children with unilateral cleft lip and palate. The putty was compared to the standard approach of using the child's own bone. Researchers measured how much bone remained after one year, as well …

This study looked at whether a high-fat diet changes how children with mitochondrial disease burn energy. 36 children aged 5 to 21 were randomly assigned to eat either a normal or high-fat diet for a month, then switched. Researchers measured their resting energy use and body com…

This early-phase trial tested a combination of three drugs—vemurafenib, cetuximab, and irinotecan—in 47 people with advanced solid tumors that have a specific BRAF V600 mutation and could not be removed by surgery or had spread. The main goal was to find the safest dose and under…

This study followed 26 people with Anderson-Fabry disease, some taking the enzyme replacement drug Replagal® and some not, to see how their hearts changed over two years. Researchers used special MRI scans to measure heart tissue relaxation time, which may indicate early damage. …

This trial tested a new gene therapy called ST-920 for Fabry disease, a rare genetic condition. The therapy uses a harmless virus to deliver a working gene that helps the body produce an enzyme it's missing. 36 adults with Fabry disease received a single intravenous dose and were…

This Phase 3 trial tested a gene therapy called GS010 in 98 people with Leber hereditary optic neuropathy (LHON), a genetic condition that leads to rapid vision loss. Participants received injections of the therapy or a placebo into both eyes. The study measured changes in vision…

This study followed 21 boys with Hunter syndrome who started taking Elaprase before age 6. Researchers tracked their height and weight for at least 5 years to see if the drug helps them grow more like other children. The study also monitored safety and compared growth data to unt…

This study looked at 32 children with clubfoot who were already treated with the Ponseti method. Researchers wanted to see if adding myofascial release and static stretching to nighttime bracing could prevent the foot from relapsing. The children received therapy sessions and wer…

This study tested the safety and effectiveness of atorvastatin (Lipitor) in 15 children with Alagille syndrome who had skin cholesterol deposits called xanthomas. The children took the drug for 6 months, and doctors graded the size and number of the lumps. The goal was to see if …

This study looked at the long-term safety of pegunigalsidase alfa, an enzyme replacement therapy, in 97 adults with Fabry disease. Participants received the drug intravenously every two weeks for up to several years. The main goal was to track side effects and see how well the dr…

This study followed 62 people with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes vision loss, for up to 5 years after they received a single gene therapy treatment called GS010. The goal was to see if the treatment remained safe and if any vis…

This study tested an experimental drug called E7090 in 63 people with advanced bile duct cancer that has a specific genetic change (FGFR2 fusion). Participants had already tried chemotherapy without success. The goal was to see if the drug could shrink tumors. Results help determ…

This phase 3 trial tested a single injection of GS010 gene therapy in 39 people with Leber Hereditary Optic Neuropathy (LHON) who had vision loss for 6 months or less. The treatment aims to improve vision by delivering a working copy of the ND4 gene to the eye. Results measured c…

This study tested a one-time gene therapy injection, GS010, in 37 adults with Leber Hereditary Optic Neuropathy (LHON), a genetic condition that causes rapid vision loss. Participants had vision loss for 6 to 12 months before treatment. The goal was to see if the therapy could im…

This study tested a gene therapy called GS010 in 19 adults with Leber Hereditary Optic Neuropathy (LHON), a rare inherited eye disease that causes rapid vision loss. The main goal was to see if the treatment is safe and tolerable at different doses. The therapy uses a harmless vi…

This study tested a modified jaw surgery (Le Fort I osteotomy) in 9 adults with cleft lip and palate who also had a misaligned bite and a bone gap in the upper jaw. The surgery aimed to improve facial structure and reduce the size of the bone defect. Researchers measured changes …

This study looked at 250 people with Chiari malformation type I and syringomyelia to compare two surgical approaches: one that opens the covering of the brain and spinal cord, and another that also removes or shrinks the tonsils at the base of the brain. The goal was to see which…

This phase 2 trial tested a gel called NFX-179 on skin tumors in 199 adults with neurofibromatosis type 1. Participants applied the gel daily for 26 weeks. The study measured safety and whether tumors shrank in size or height. Results suggest the gel may help reduce tumor volume,…

This phase 3 trial tested a new version of the drug agalsidase beta (AGA BETA BS) in 20 people with Fabry disease who were already stable on the standard drug Fabrazyme. Participants switched to the new drug for 54 weeks to see if it worked just as well. The main goal was to keep…

This study looked at the long-term safety of a drug called migalastat in 16 people over age 12 with Fabry disease, a rare genetic disorder. Participants had already completed an earlier study and continued taking migalastat to see if it was safe and how it affected kidney functio…

This study tested a new device called the Leaf Self Expander to widen the upper jaw in 20 children with cleft lip and palate. The device was compared to the standard rapid maxillary expander. Researchers used 3D scans to measure changes in bone and tooth position. The goal was to…

This phase 3 study tested TAK-625 (maralixibat) in 7 Japanese children with Alagille syndrome, a rare genetic liver disorder. The goal was to see if the drug reduces bile acid levels and itching, and to find the best dose. Participants took the drug daily for up to 34 months, wit…

This study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…

This study tested whether a structured Pilates program during pregnancy, continued until childbirth, helps women recover ligament strength and reduce pain after giving birth. Researchers followed 42 women at 6 weeks postpartum, measuring joint looseness and activity limitations. …

This study tested two methods to correct underbite (skeletal Class III malocclusion) in 14 growing children. One group used a traditional tooth-borne anchor with a face mask, while the other used a palatal plate with a face mask. The goal was to see which approach better moves th…

This completed Phase 3 study tested somatropin, a synthetic growth hormone, in 33 Japanese children and adults with Prader-Willi syndrome. The goal was to see if it safely improves body composition by increasing lean body mass and reducing fat. Participants were divided into thre…

This study looked at the long-term safety and effectiveness of Hunterase (idursulfase beta) in 30 people with Hunter syndrome over about one year. Participants had either completed a previous phase 3 study or had used Hunterase for at least six months. The goal was to monitor sid…

This phase 2 trial tested the drug sirolimus (rapamycin) in 61 children and young adults with complicated vascular anomalies—abnormal blood vessel growths that can cause pain, bleeding, or organ problems. The goal was to see if sirolimus could safely shrink these anomalies and im…

This study tested whether a special material made from a child's own blood, called platelet-rich fibrin (PRF), can reduce complications after surgery for a rare bladder condition called bladder exstrophy. Twenty children having their first bladder repair surgery were split into t…

This early-stage trial tested an oral drug called JAB-3312 in 40 adults with advanced solid tumors (like lung, colon, or breast cancer) that had stopped responding to standard treatments. The main goals were to find a safe dose and check for side effects. Researchers also looked …

This phase 3 trial tested two new antibiotic combinations—cefepime/nacubactam and aztreonam/nacubactam—against a standard antibiotic (imipenem/cilastatin) in 614 adults with complicated urinary tract infections or acute kidney infections. The goal was to see if the new combos are…

This study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…

This study looked at 141 men with Klinefelter syndrome (47,XXY) to see if younger men (ages 15–22) have a better chance of finding sperm through testicular biopsy compared to older men (ages 23–55). Participants provided two semen samples, and if no sperm were found, they underwe…

This study tested whether a custom dynamic hand splint helps improve hand movement after surgery to repair torn extensor tendons. Forty adults aged 20-40 with tendon injuries in zones 5 or 6 participated. After three weeks of wearing a static splint, one group used the dynamic sp…

This study tested a drug called bevacizumab in 25 adults with hereditary hemorrhagic telangiectasia (HHT) who had severe liver issues and high heart output. The goal was to see if the drug could improve heart function and reduce the need for a liver transplant, which requires lif…

This study tested a new surgical technique for repairing a common complication after cleft palate surgery: a hole (fistula) in the roof of the mouth. In 36 patients, half received the standard two-layer repair, while the other half also had a small piece of fat from the cheek pla…

This completed Phase 4 trial tested the drug Mexidol in 80 people with advanced primary open-angle glaucoma. The goal was to see if the drug could improve the function of mitochondria in cells and protect the optic nerve. Participants were randomly assigned to receive Mexidol or …

This study tested two ways to pull the upper jaw forward in 40 children aged 7-13 with underbite. One method used a traditional face mask attached to teeth, the other used tiny screws placed in the cheekbone. Both followed a special expansion protocol. The goal was to see which a…

This study tested different doses of the drug Mexidol in 102 adults with moderate to advanced open-angle glaucoma. The goal was to see if the drug could improve vision compared to a placebo. Participants took the drug or placebo in a sequence over several months, and their vision…

This study looked at the long-term safety of a drug called maralixibat in 52 people with cholestatic liver disease, including Alagille Syndrome and other rare conditions. Participants had already taken maralixibat in an earlier study. Researchers tracked side effects and how well…

This study tested a phone-based program called MommyCheckup to see if it helps pregnant women who drink alcohol cut back or stop. The program includes a short motivational video and tailored text messages. Researchers enrolled 384 pregnant women across three states to see if the …

This Phase 3 trial tested a daily injection called elamipretide in 102 adults with primary mitochondrial myopathy, a genetic condition that causes muscle weakness and fatigue. Participants received either the drug or a placebo for 48 weeks. The main goal was to see if the drug co…

This study tested whether giving Fabrazyme, a lifelong enzyme replacement therapy for Fabry disease, at a faster infusion rate is safe and tolerable. Eight patients who had been on Fabrazyme without recent reactions participated. The goal was to see if shortening infusion time co…

This study tested a drug called MEK162 in 105 children with low-grade gliomas or other tumors that have a specific overactive growth signal. The goal was to find the best dose, check for side effects, and see if the drug could shrink tumors. Children took the drug by mouth twice …

This completed trial tested a personalized program of physical activity, nutrition guidance, and education for 128 adults with Prader-Willi syndrome. Participants followed the program during a 5-week hospital stay, with the goal of stabilizing or reducing their body mass index (B…

This study compared three treatments for children aged 9-12 with a forward lower jaw (Class III malocclusion): a face mask with expander, a mini maxillary protractor, and a chin cup with elastics. Fifty-five children were treated, and researchers measured changes in facial bones …

This study tested a drug called Aldurazyme (laronidase) in 12 Chinese people with mucopolysaccharidosis I (MPS I), a rare genetic disorder. Participants received weekly infusions for 26 weeks to see if the treatment is safe and reduces waste products in urine. The goal is to mana…

This study tested the safety and effectiveness of Fabrazyme (agalsidase beta) in 22 Chinese patients with Fabry disease, a rare genetic disorder. Participants received enzyme replacement therapy through IV infusions over 54 weeks. The study monitored side effects and changes in d…

This study tested whether a mobile game could help children aged 11-14 with chronic kidney failure better manage their condition. 68 children were split into two groups: one used the game, the other received standard education. Researchers measured changes in BMI, blood pressure,…

This phase II trial tested the drug isatuximab in 43 patients with AL amyloidosis that had come back or stopped responding to treatment. Isatuximab is a monoclonal antibody that may help stop abnormal protein buildup. The study measured how well the drug reduced disease markers a…

This study tested two ways to stimulate sacral nerves in 48 children aged 2-17 with severe constipation and fecal incontinence that didn't improve with standard care. One group got an implanted nerve stimulator, the other a non-invasive patch. The goal was to see if either approa…

This study tested whether giving the antiviral drug valacyclovir to pregnant women with a CMV-infected fetus could reduce the chance of the baby being born with serious symptoms. 41 pregnant women took high doses of valacyclovir daily for up to 23 weeks. The goal was to see if th…

This study tested a rapid fingerstick test that checks for both HIV and syphilis at the same time in pregnant women visiting prenatal clinics in Guatemala. The goal was to see if this quick, on-the-spot screening would lead to more women being diagnosed and treated during pregnan…

This trial evaluates a new blood test (ELISPOT) that looks for immune cells in a newborn's cord blood that produce antibodies against the Toxoplasma parasite. The goal is to see if this test can diagnose congenital toxoplasmosis—an infection passed from mother to baby during preg…

This study tests whether whole exome and whole genome sequencing can uncover genetic causes of nonimmune fetal hydrops—a serious condition where fluid builds up in a fetus—when standard tests find nothing. Researchers will analyze DNA from 55 affected fetuses or newborns and thei…

This study compares an artificial intelligence (AI) system called WebCeph with the traditional way orthodontists diagnose and plan treatment for misaligned teeth (malocclusion). Researchers will use routine dental records from 120 new patients aged 12 and older. Each case will be…

This study looked at whether functional MRI can accurately measure kidney function in children with pyelo-ureteral junction syndrome, a common urinary blockage. Researchers compared MRI results to the standard scintigraphy scan in 270 children aged 0-17. The goal was to see if MR…

This study tested whether a special MRI scan called T1 mapping can detect kidney damage in people with Fabry disease, a rare genetic disorder. Researchers compared MRI results from 70 adults with and without Fabry disease. The goal was to see if this non-invasive scan could help …

This study tested 776 people with chronic pain of unknown cause to see if they had Fabry disease, a rare inherited disorder that can cause pain, kidney, heart, and nerve problems. Researchers used enzyme tests in men and genetic tests in women to find cases. The goal was to see h…

This study tested a new ultra-low-dose chest CT technique in 3 children (ages 1-17) with hereditary hemorrhagic telangiectasia (HHT) to see if it could detect abnormal blood vessels in the lungs (PAVMs) using much less radiation than standard CT. The goal was to find the lowest p…

This study looked at whether newborns who fail their hearing screening can be diagnosed with congenital CMV infection and have a full hearing test before they turn one month old. Researchers tested 235 babies to see how quickly they could get results. The goal is to improve early…

This study tested whether a laser confocal microscope, used during a kidney-ureter scope procedure, can tell the difference between normal and cancerous tissue in the upper urinary tract. 29 adults with conditions like blood in urine, kidney stones, or urinary tract cancer took p…

This study tested two new tools for diagnosing tuberculosis (TB): a software that analyzes chest X-rays (CAD4TB) and a blood test that measures C-reactive protein (CRP). Researchers enrolled 1,400 adults with TB symptoms in Lesotho and South Africa. They compared these tests to s…

This study tested whether an ultra-low dose chest CT scan can find lung blood vessel malformations in people with hereditary hemorrhagic telangiectasia (HHT) as well as the standard low-dose CT scan, but with much less radiation. 45 HHT patients received both scans, and radiologi…

This trial tests whether giving azithromycin—a common antibiotic—twice a year to young children in Niger can reduce deaths. It compares giving the drug to all children aged 1-59 months versus only to infants 1-11 months, who are at highest risk. The study also checks how these ap…

This study tested three methods of keeping teeth dry while applying protective sealants to prevent cavities in children's permanent molars. Thirty children at high risk for cavities took part, and each method was compared for how long it took, how well the sealant stayed on after…

This study tested whether quercetin, a natural substance found in some foods, could help prevent a type of mouth cancer in people with Fanconi anemia, a rare genetic condition that raises cancer risk. 48 participants took quercetin to see if it reduced certain cell changes linked…

This study tested whether teaching pregnant women about CMV risks and protective behaviors could prevent them from catching the virus. 582 women were enrolled early in pregnancy. The intervention involved brief counseling sessions. The goal was to reduce CMV infections that can c…

This study tests whether teaching pregnant women about hygiene habits can reduce their risk of catching cytomegalovirus (CMV) and passing it to their baby. Researchers will enroll 200 pregnant women in Brazil and provide counseling on behaviors like handwashing. The goal is to cu…

This study tests whether a custom wrist brace made with 3D scanning and printing can improve quality of life for people with Ehlers-Danlos Syndrome (EDS) compared to standard braces. The brace aims to reduce pain, prevent joint dislocations, and help with daily activities like co…

This study tested whether providing overnight infant care and parenting support helps new mothers with substance use disorder living in residential treatment programs. 41 mothers participated, and researchers measured how many enrolled, completed the program, and gave feedback. T…

Newborns with complete bilateral cleft lip and palate often wear a custom molding appliance for a few months before surgery to bring the upper jaw segments closer together. This trial compares two versions: a vomer molding appliance and a conventional molding appliance. Researche…

Boys with hemophilia often miss out on games and activities because of concerns about bleeding and joint damage. Researchers developed a 12-week muscle-strengthening exercise programme with input from children, parents, and physiotherapists. The DOLPHIN-II trial compares this pro…

This study tests whether custom-made 3D-printed masks fit children better than standard commercial masks for non-invasive ventilation (NIV). Fifteen children aged 8-12 who already use NIV but have poor adherence will try a custom mask made from a 3D facial scan. Researchers will …

This study looks at whether watching an animated film or reading a storybook can lower fear and anxiety in children aged 7 to 12 who have just been diagnosed with type 1 diabetes. About 64 children will take part, and their anxiety levels will be measured using special child-frie…

This completed study tested hyaluronic acid fillers injected into the penis to increase width and girth in 20 healthy men aged 21 to 65. The main goal was to see if size increased after one year using 3D imaging. The treatment is a temporary cosmetic procedure, not a cure for any…

This study looks back at the records of 150 healthy adults who received bipolar radiofrequency treatment with the Accent system for wrinkles and skin laxity. Researchers will compare before-and-after photos, rated by blinded evaluators, to assess how well the treatment improves s…

This trial tests whether stem cells from children's shed baby teeth can replace the standard hip bone graft for repairing a cleft in the upper jaw. Twenty children aged 7 to 12 with cleft lip and palate will receive either the stem cell graft or a traditional bone graft from thei…

This trial tests whether a telemedicine follow-up — a simple online survey with photos and a vision check — can safely replace the first in-person visit after low-risk eyelid procedures like droopy eyelid repair or skin cancer removal. Adults undergoing these surgeries will eithe…

This study tested whether ear acupressure (small pellets on specific ear points) plus basic breast care can reduce pain and blocked milk ducts in women after cesarean delivery. 72 new mothers with blocked ducts received either real ear acupressure or a sham version for 3 days, al…

This study tested whether a special nerve block given during cleft palate repair can lower pain and reduce the need for opioids in children. Forty children having their first cleft palate surgery received the nerve block. Researchers measured pain scores and opioid use to see if …

This study investigates whether an online Pilates program designed for people with hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder can reduce pain and improve function. Participants follow 25-minute guided videos three times a week for eight weeks. Researche…

This study tested two 8-week stress management programs delivered via secure video calls for 196 adolescents aged 12–17 with neurofibromatosis (NF1 or NF2). The goal was to see if these programs could improve emotional, social, and physical quality of life. Both programs taught c…

This study tested whether a new prosthetic hand, the SoftHand Pro, helps people with below-elbow limb loss perform daily activities better than a commonly used hand, the i-Limb. Thirty-six adults who already use a myoelectric hand took part over 8 weeks. Researchers measured how …

This study looked at three different ways to manage pain after abdominal wall repair surgery: an epidural, a nerve block, and local injections. 160 adults who had this surgery were randomly assigned to one of the three methods. The goal was to see which approach provides the best…

This study tested whether a small, at-home device that stimulates a nerve in the ear can improve symptoms like pain, fatigue, sleep, and mood in people with hypermobile Ehlers-Danlos syndrome (hEDS). Twenty-five adults with hEDS used the device daily for two weeks, with some rece…

This study tested a wearable device that delivers mild electrical stimulation to the ear in 30 adults with hypermobile Ehlers-Danlos syndrome (hEDS). The goal was to see if it could improve quality of life by reducing symptoms like pain, fatigue, sleep problems, and anxiety. Part…

This study compared two therapies—myofeedback and neuromuscular electrical stimulation—to see which better improves arm and hand function in children aged 6 to 14 who have one-sided weakness (hemiplegia) after brain tumor surgery. Forty-five children participated, and researchers…

This study looked at 40 infants under 1 year old having kidney surgery. They received a pain block with either bupivacaine alone or bupivacaine plus ketamine. The goal was to see if adding ketamine reduces pain and the need for extra pain medicine after surgery.

This completed clinical trial tested a high-intensity focused ultrasound (HIFU) device called ULTRAFORMER MPT for lifting eyebrows without surgery. 180 adults aged 20-65 with mild to moderate forehead skin laxity received either a single HIFU treatment or no treatment. The study …

This phase 2 study tested whether pitolisant, a drug that promotes wakefulness, can safely reduce excessive daytime sleepiness in people with Prader-Willi syndrome. The trial enrolled 65 participants aged 6 to 65 and compared pitolisant to a placebo over 11 weeks, followed by an …

This study looked at whether aerobic exercise and virtual reality games could improve functional capacity, activity, and participation in children aged 6-10 living in care facilities. Sixty-three children were split into groups: one did aerobic exercise, one played VR games, and …

This study tested whether a single dose of dexmedetomidine, given during surgery, can prevent severe agitation in children aged 1-7 after cleft palate repair. Sixty children were randomly assigned to receive either the drug or a placebo (saline). The main goal was to measure emer…

This study tested two numbing methods for a common clubfoot procedure in infants: a needle-free jet injection that works in 1-2 minutes versus a topical cream that takes 30 minutes. Researchers measured pain using a standard scale, heart rate, and oxygen levels in 107 babies. The…

This study tested whether N-acetylcysteine (NAC), an over-the-counter antioxidant, could improve learning and motor skills in children with neurofibromatosis type 1 (NF1). Five children aged 8 to 16 took NAC or a placebo to see if it helped with movement and attention problems. T…

This study looked at whether music can help children aged 6-9 feel less anxious and experience less pain during a routine dental procedure (applying sealants). Each child had three treatments: one with no music, one with classical music chosen by the dentist, and one with their o…

This study tested whether a home exercise program, supported by a smartwatch and weekly coaching, is practical and acceptable for people with mitochondrial disease. Ten participants followed an 8-week program with remote monitoring. The goal was to see if people would stick with …

This study tested a powered leg exoskeleton (Keeogo) in 50 people with various muscle disorders to see if it is safe and helps them walk better. Participants performed walking tests with and without the device. The goal was to see if the device could improve walking distance and …

This study tested a wearable robotic suit called MyoSuit that assists knee and hip movement in people with various muscle disorders. 32 participants used the device to perform walking tests, and researchers checked for safety and any immediate improvements in walking ability. The…

This study tested whether combining two types of dermal fillers—Sculptra and Restylane—can improve cheek volume, wrinkles, and skin quality in 41 adults with moderate-to-severe cheek aging. Participants had a history of weight loss or were taking GLP-1 medications. They received …

This study tested whether the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover d…

This study tested a micro-coring device that removes small pieces of skin to reduce moderate to severe cheek wrinkles. Thirty adults aged 40 to 70 participated. Researchers measured wrinkle improvement at 90 days and tracked any side effects.

This study tested whether wearing compression garments and doing specific physiotherapy exercises could improve balance and quality of life in people with hypermobile Ehlers-Danlos syndrome (hEDS). Forty patients with hEDS were followed for a year, first receiving standard care, …

This study compared two surgical techniques for treating gynecomastia (enlarged male breasts) in 64 men with mild to moderate severity. Participants were randomly assigned to receive either periareolar excision or pull-through surgery, and their satisfaction with chest appearance…

This study tested a gel called ZYN002, applied to the skin, in 20 children and teens (ages 4-17) with 22q11.2 deletion syndrome. The main goal was to see if the gel is safe and tolerable over 38 weeks. Researchers also looked at whether it could improve behavior and other symptom…

This study looked at whether using finger puppets, video games, or stress balls can help reduce fear and improve emotional behavior in children aged 4-6 who need inhaler therapy. 120 children participated, and researchers measured their fear levels, emotional responses, and paren…

This study looked at whether a program called Hyperarch Fascia Training (HFT) can reduce ankle pain and improve jumping ability in active adults aged 20-45 who have had ankle sprains. 62 participants were split into two groups: one did HFT exercises remotely for 12 weeks, while t…

This study looked at whether adding a 3D myofascial release technique (a type of hands-on therapy) to McGill exercises (a specific back exercise program) helps people with non-specific low back pain. 38 adults with pain and an exaggerated inward curve of the lower spine took part…

This study tested whether a nerve block called erector spinae plane block (ESPB) can reduce pain and the amount of anesthesia needed during and after tethered cord surgery in children. The trial involved 73 children aged 18 and under. The goal was to see if the block lowers pain …

This study tested a topical cream called DMAE Oleate on 30 healthy adults aged 40 to 55 who had visible fine lines, wrinkles, and loose skin. Participants applied the cream at night for 12 weeks. Researchers measured changes in crow's-feet wrinkles and skin firmness using special…

This study tested a smartphone app called FMF Connect for parents and caregivers of children with fetal alcohol spectrum disorders (FASD). The app provides helpful information and peer support to manage children's behavior. 129 parents participated, and researchers measured chang…

This study tested whether barbed sutures (V-Loc) are safer and easier to use than standard polyglactin sutures (Vicryl) in minimally invasive kidney surgery for a blocked ureter. Forty adults aged 18 to 60 were randomly assigned to receive either barbed or standard sutures during…

This study tested whether a single session of radiofrequency treatment with continuous water cooling could improve jawline contour and facial volume in 22 women aged 38-50. Participants received one treatment and were followed for 8 weeks. The goal was to see if the device could …

This study tested two stress and symptom management programs for adults with neurofibromatosis (NF1, NF2, or schwannomatosis). The programs were delivered through live videoconferencing over 8 weekly sessions. Researchers measured changes in quality of life and emotional well-bei…

This study tested whether a custom compression vest (SED CICATREX®) can reduce shoulder pain and improve stability in adults with hypermobile Ehlers-Danlos syndrome. 48 participants wore the vest for 4 weeks, then went without it for 4 weeks. Researchers measured muscle strength,…

This study tested whether oxytocin nasal spray, sometimes called the 'love hormone,' can improve behavior and eating problems in adults with Prader-Willi syndrome. Fifty participants received either oxytocin or a placebo daily or every three days for 28 days. Researchers measured…

This study tested whether giving tranexamic acid (TXA) before tummy tuck surgery reduces blood loss. Sixty adults scheduled for abdominoplasty received either TXA or a placebo before their operation. Researchers measured blood loss, hemoglobin, and other markers to see if TXA hel…

This study tested whether cooling the skin before or during laser and injection treatments for neurofibromatosis type 1 (NF1) skin bumps can reduce pain. Thirteen adults with NF1 received four different treatments (two lasers and two injections) on both cooled and non-cooled skin…

This study looked at whether children with year-round allergic rhinitis can use a nasal steroid spray only when symptoms bother them, instead of every day. Sixty-eight children aged 6 to 18 were randomly assigned to either daily use or as-needed use of fluticasone furoate spray. …

This study tested whether a supervised exercise program (MoveUS) could reduce fatigue and improve quality of life in 108 adults with shoulder instability. Participants were randomly assigned to either the exercise program or usual care. The results will help determine if this app…

This pilot study tested whether a daily dose of EGCG, a natural compound found in green tea, could improve cognitive performance in 36 children aged 7 to 14 with fetal alcohol syndrome. The children took EGCG for one year and had their thinking skills measured at the start, at 6 …

This completed trial tested the BTL-785F device on 39 healthy adults over 30 who wanted better skin on their face and neck. Participants received three treatments, each lasting 20–60 minutes, spaced 2–6 weeks apart. The goal was to see if the device could improve skin texture, re…

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

This study followed 17 adults with neurofibromatosis type 1 (NF1) over two years to learn how their skin tumors (dermal neurofibromas) grow and change. Researchers used special cameras and skin biopsies to measure tumor growth and look for genes that might influence it. The goal …

This study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic …

This study looked at people with three rare genetic conditions—xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD)—that affect the body's ability to repair DNA. Researchers examined 709 participants to understand how these defects relate to cancer ri…

This study checks whether an artificial intelligence (AI) system trained on Turkish patients can accurately diagnose jaw and bite problems in people from other ethnic backgrounds. Researchers will compare the AI's performance on 5,000 patients from Turkey and Belgium using photos…

Researchers are tracking birth outcomes for infants born in Eswatini to mothers who took dolutegravir or other HIV drugs around the time of conception. The study compares rates of neural tube defects and other birth defects among babies born to HIV-positive women on dolutegravir,…

Researchers are following 110 people aged 1 to 65 who have homocystinuria caused by a missing or faulty CBS enzyme. The study observes how the condition changes over time under standard care, without testing any new treatment. Participants give blood samples, complete quality-of-…

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

This study followed 180 adults with syringomyelia, a condition where a cyst forms in the spinal cord, for up to 5 years. Researchers tracked symptoms, muscle strength, and MRI scans to learn how the disease progresses and how surgery affects outcomes. The goal was to gather knowl…

This study looked at the genetics of Chiari I malformation, a condition where part of the brain pushes into the spinal canal. Researchers analyzed DNA and family histories from 152 participants to find genes that may cause the malformation. The goal was to better understand why i…

This completed study by the National Human Genome Research Institute looked at 207 people with Moebius syndrome or similar congenital facial weakness disorders, along with their family members. Researchers aimed to better understand the genetic and clinical features of these cond…

This study is creating a large network of hospitals across Italy to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs), such as CADASIL, Fabry disease, and Moyamoya. Researchers will collect medical information and blood samples from 500 patients to …

This study looks at people with neurofibromatosis type 1 (NF1) and their families to find out why some have more severe symptoms than others. Researchers will collect medical history, blood samples, and images to study genes and physical traits. The goal is to identify genes that…

This study aims to find out which of two educational programs better helps adults with Neurofibromatosis 1 (NF1) and parents of children with NF1 get the recommended health screenings during their regular checkups. Participants live across the U.S. and do not currently visit a sp…

This study is testing whether epigenetic changes in newborn blood can serve as a biomarker for fetal alcohol spectrum disorder (FASD). Researchers will collect umbilical cord blood at birth and heel stick blood at 48 hours from 600 newborns, and compare these with blood alcohol l…

This study looked at nearly 1,400 people with rare conditions like PPNAD, Carney Complex, and Peutz-Jeghers syndrome. The goal was to find the genetic causes and link them to specific symptoms. Researchers used clinical exams and genetic testing to better understand how these dis…

This study looks back at the medical records of 244 adults in France with hereditary hemorrhagic telangiectasia (HHT), also called Rendu-Osler disease, who were treated with the drug bevacizumab. The goal is to describe how the drug was used and to measure its impact on bleeding,…

This study investigates why some girls with Turner syndrome find it hard to make friends, read emotions, and control their feelings. Researchers will compare 35 girls with Turner syndrome to 35 girls with isolated growth hormone deficiency, all aged 7 to 16. Through puzzles, memo…

This study looks at whether certain genetic variations are linked to a type of underbite called skeletal Class III malocclusion. Researchers will collect saliva samples, facial photos, and X-rays from people with and without the condition to compare their DNA. The goal is to iden…

This study tested a school program called SocLaLola that uses a comic book to teach children aged 8-11 about pain. The goal was to see if it improves kids' understanding of pain and reduces their fear of moving. Eighty-two students from two primary schools took part. The program …

This study looked at people with neurofibromatosis type 1 (NF1) to better understand how harmless tumors (plexiform neurofibromas) turn into a rare cancer called MPNST. Ten participants had MRI, PET scans, and tumor biopsies. Researchers tested whether a special PET scan (FLT PET…

This study tests whether a teaching approach called ARCS (Attention, Relevance, Confidence, Satisfaction) can improve nursing students' ability to perform cardiovascular physical exams. One hundred second-year nursing students will receive either standard training or standard tra…

This study asks whether school-age children view peers with microtia — a condition where the outer ear is underdeveloped — differently than those with a typical ear, and whether surgical reconstruction changes that perception. Over 1,200 children aged 6 to 18 will view a photo of…

This Phase 1 study tested different doses of the oral antiviral drug valacyclovir in 17 newborns whose mothers had genital herpes. The goal was to find a dose that gives similar drug levels in the blood as the standard IV treatment. Researchers measured how the drug was processed…

This study looks at how the shape of the jaw and dental arches differs among teenagers aged 15 to 18 with three common types of misaligned bites (Class I, II, and III). Researchers in Vietnam used X-rays and 3D scans to measure facial bones, teeth, and soft tissues. The goal is t…

This study looks at how well joints like the shoulder, knee, ankle, elbow, and wrist work after orthopedic surgery in people with Ehlers-Danlos syndrome, a condition that affects connective tissue. Researchers are using standard joint function scores to measure outcomes in 200 ad…

This study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.

This study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …

This study looked at how patients and healthcare professionals experienced a new way of organizing primary care, where different health workers work together as a team. Researchers interviewed 48 patients and staff at one health centre in France. The goal was to understand what w…

This study looked at how blood vessel function relates to heart blockage in people with a genetic heart condition called hypertrophic cardiomyopathy. Researchers measured blood flow and vessel flexibility in 40 adults. The goal was to understand the connection, not to test a trea…

This study tested 137 people with chronic pain of unknown cause to see if they had Fabry disease, a rare genetic disorder. Researchers used blood tests to check for the condition. The goal was to find out how common Fabry disease is in this group and help diagnose it earlier.

This study looked at whether a special honey (Trigona sp.) helps heal wounds after cleft palate surgery better than a standard antibiotic dressing. Twenty-four children aged 18 months to 6.5 years participated. Researchers measured a healing marker in saliva before and after surg…

This study looked at how hormones and birth control pills affect knee ligament looseness in healthy women. Researchers measured knee laxity in 45 women at two points in their menstrual cycle, comparing those on hormonal contraceptives to those not. The goal was to better understa…

This study investigates whether changes in DNA methylation—a kind of chemical switch—might cause certain rare limb malformations that appear without a family history. Researchers will compare DNA samples from 40 people with Amelia (missing two or four limbs) or Femur Fibula Ulna …

This study looked at 31 people with a type of jaw misalignment called skeletal Class III deformity. Researchers compared how the face's soft tissues changed after two types of jaw surgery: a minimally invasive approach and a conventional one. Using 3D imaging, they measured diffe…

This study collected information from over 15,000 people hospitalized with cardiomyopathy, a heart muscle disease. Researchers looked at how much these hospital stays cost and what the money was spent on. The goal was to understand the real-world financial impact and help manage …

This study looked at a treatment called "Surgery-First" for people with a severe underbite (skeletal Class III malocclusion). Instead of wearing braces before surgery, patients had jaw surgery first to fix the bone problem, then braces afterward. Researchers studied 60 patients u…

This completed study looked at 29 people with hypophosphatasia, a rare bone disease, who had no known genetic cause from standard tests. Researchers used whole genome sequencing to find hidden genetic changes in the ALPL gene. The goal was to better understand the disease and imp…

This study looked at how the way words sound (phonotactic probability) and how they are spelled (orthography) affect vocabulary learning in 23 children with low oral language skills (DLD). All children took part in the same 12-week program, which used real words to improve vocabu…

This study looked at whether a food safety training program helps food service employees improve their knowledge, attitudes, and practices around safe food handling. About 200 adult workers took part, and the training covered personal hygiene and safe food preparation. The goal w…

This study looked at over 2,200 people with hereditary hemorrhagic telangiectasia (HHT), a rare condition that causes abnormal blood vessels. The goal was to find out what makes some people with HHT more likely to have a brain bleed. Researchers collected health information, bloo…

This completed study looked at how appetite-regulating hormones change in infants with Prader-Willi syndrome during the first four years of life. Researchers collected blood samples from 215 infants to understand why they switch from poor feeding to severe overeating and obesity.…

This completed study tested whether giving families of children with long-term illnesses (like cancer, heart disease, or premature birth) a tablet computer with a special app helps them manage care at home. Researchers measured satisfaction, cost-effectiveness, and how well famil…

This study looked at the emotional and psychological experiences of 12 children aged 10 to 16 who were born without one ear (ear aplasia) and chose to have reconstructive surgery. Researchers used interviews and tests to understand how the children think and feel, and how surgery…

This study looked at how the drug letermovir passes from a pregnant woman to her fetus during the second trimester. Seven women who were already scheduled to end their pregnancy for other reasons took part. The goal was to measure drug levels in fetal blood and amniotic fluid to …

This small study looked at skin samples from 7 people having a lower facelift to see if adding Renuvion APR treatment improves skin elasticity, hydration, and biological age. Researchers compared treated and untreated skin areas before and 180 days after surgery. The goal was to …

This study looked at whether taking progesterone (in women) or testosterone (in men) could reduce dangerous changes in heart rhythm caused by certain medications. 73 healthy older adults (postmenopausal women and men 65+) took either the hormone or a placebo, then received a smal…

This completed study looked for genetic causes of Chiari type I malformation, a condition where part of the brain pushes into the spinal canal. Researchers took blood samples from 40 people with the condition and their relatives to analyze their DNA. The goal was to find specific…

This study looked at how routine cleft repair surgery changes blood flow in the roof of the mouth. Researchers used a non-invasive probe to measure oxygen levels in the tissue before and after surgery in 77 patients. The goal was to understand the surgery's effect on tissue healt…

This completed study monitored 100 adults with Fabry disease using a wearable device and questionnaires to measure physical activity, sleep, and quality of life. The goal was to understand how daily movement and rest relate to anxiety, depression, and overall well-being. No treat…

This study aims to develop a computer algorithm that can detect Fabry disease earlier by analyzing hospital electronic health records. Researchers will look at data from the past 10 years to see if they can identify patients with Fabry disease using a ranking system. No drugs or …

This study followed 60 heart transplant patients for one year to see if levels of a harmless virus called TTV in the blood are linked to infections or organ rejection. Researchers took monthly blood samples alongside routine care. The goal is to find a new way to monitor transpla…

This study looked at 24 adults with a specific jaw misalignment (Class III) who needed double-jaw surgery. Researchers compared two different surgical timings—surgery first versus surgery early—to see how they affected tooth root length and volume, as well as facial soft tissues.…

This study measured normal nasalance scores in 131 French-speaking children aged 8 to 10 using a non-invasive device called a Nasometer. The goal is to create reference values that help doctors diagnose velopharyngeal dysfunction, a common issue in children with cleft palate, wit…

This study looked at how often children with a rare adrenal gland problem (congenital adrenal insufficiency) experience dangerously low blood sugar. Even with standard treatment, these children may have low blood sugar without obvious symptoms. Researchers monitored 9 children ag…

This study checked in on 5 adults with Fabry disease who had been taking enzyme replacement therapy (ERT) since childhood for about 15 years. Researchers measured kidney function and heart health to see how well the long-term treatment worked. The goal was to gather follow-up dat…

This study looked at 44 people with a rare inherited eye condition called Leber Hereditary Optic Neuropathy (LHON) that causes vision loss. Researchers reviewed medical records and asked participants about their vision, health, and quality of life. The goal was to better understa…

This study looked at children aged 6 to 18 who had heart surgery before they were 3 months old. Researchers asked parents to fill out a questionnaire about their child's emotions, behavior, and social skills. The goal was to see if these children face any developmental challenges…

This registry tracked over 1,400 people with MPS I, a rare genetic disorder, to better understand how the disease progresses and how treatments like enzyme replacement therapy work over time. It did not test a new drug but collected real-world data to help doctors improve patient…

This completed study created a French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected medical and genetic information from 28 patients to better understand these conditions and estimate how many people are affecte…

This study looked at 78 teens with adolescent idiopathic scoliosis to see if the size of their spinal curve (Cobb angle) is linked to how much pain they feel and how they see their body. Participants were grouped by curve severity (mild, moderate, moderate-to-severe). Researchers…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This completed study looked at how much time healthcare professionals spend preparing and giving enzyme replacement therapy (ERT) to adults with Fabry disease. It also measured the impact on patients and their caregivers, including time, costs, and quality of life. The goal was t…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…

This study collected blood and saliva from 334 people with Ehlers-Danlos syndrome and their relatives to find genetic differences linked to the condition. Researchers compared DNA from 30 patients and 30 relatives using advanced gene sequencing. The goal was to create a genetic t…

This completed study tracked 132 children with obstructive sleep apnea who had their tonsils removed. Researchers recorded how many had breathing problems after surgery, especially those with other health issues. The goal was to create a simple flowchart to help doctors decide wh…

This study followed 76 women with congenital toxoplasmosis (a parasitic infection present from birth) to see if pregnancy increases the risk of eye inflammation (retinochoroiditis). Researchers checked eye exams done during pregnancy and after childbirth, comparing them to non-pr…

This study looked at 188 children (ages 0-18) with Fetal Alcohol Spectrum Disorders (FASD) in Reunion Island to better describe the condition and find a unique "epigenetic signature" in their DNA. Researchers collected blood and cheek swabs from a small group of children with FAS…

This study tested a mobile health tool called CAARE to help children under 12 and their caregivers cope with emotional and behavioral challenges after a traumatic injury. Researchers measured changes in distress, PTSD symptoms, depression, and quality of life in 54 participants. …

This completed study looked at 1,200 people with neurocutaneous syndromes (NF1, TSC, SWS, VHL) in Western China. Researchers compared those who received genetic testing, targeted drugs, and coordinated specialist care against those who got standard care. The goal was to see if pr…

This study reviewed medical records of 12 children with CHARGE syndrome who had cochlear implant surgery. Researchers looked at their ear bone structure and surgical challenges to find ways to make the operation safer. The goal is to help surgeons better prepare for the unique an…

This completed study looked at whether the sedative dexmedetomidine can protect blood vessel lining during rhinoplasty. 90 patients received either standard anesthesia or dexmedetomidine plus anesthesia. Researchers measured two blood markers of vessel damage to see if dexmedetom…

This study looked at tiny molecules in the blood called miRNAs to see if they could help doctors tell apart two similar conditions in boys: undescended testicles (which need surgery) and retractile testicles (which usually get better on their own). Researchers took blood samples …

This completed study looked at 151 children with common postural conditions like flat feet, knock knees, or scoliosis. Researchers used wearable motion sensors and clinical tests to measure balance and motor control, then compared the results to healthy children. The goal was to …

This study followed 150 children aged 2 to 12 who have a port wine stain on a leg. Researchers tracked how the stain changes as the child grows, and whether it leads to problems like blood vessel issues or bone growth differences. The goal was to learn more about the condition an…

This completed pilot study looked at 47 adults with hereditary hemorrhagic telangiectasia (HHT) who also have liver involvement. Researchers used exercise echocardiography (heart ultrasound while pedaling) to measure lung artery pressure during exercise. The goal was to see if th…

This study looked at how children with Noonan syndrome process energy and sugar. Researchers measured insulin sensitivity in 20 children with the condition to see if they have unique metabolic traits. The goal was to better understand the disease, not to test a new treatment.

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…

This study tested how well two different coenzyme Q10 supplements are absorbed into the blood after a single dose. Twenty-five healthy adults aged 50-65 took each product in a crossover design. The goal was to see if a new experimental formula (BMT® coenzyme Q10) leads to higher …

This study measured how children with and without autism look at faces, body movements, and objects using eye-tracking technology. Researchers wanted to see if visual patterns could help understand social differences in autism. 150 children took part, including those with autism …

This completed study at Stanford University looked at the DNA of over 1,000 adults with Neurofibromatosis Type 1 (NF1) to find genetic differences that might explain why some people develop more skin neurofibromas than others. Participants provided blood or saliva samples for gen…

This completed study looked at whether children with neurodevelopmental disorders (like mitochondrial disease, cerebral palsy, or developmental delay) have fewer small nerve fibers in their skin, which could cause pain. Researchers took small skin biopsies from 203 children—some …

This completed study compared two schizophrenia medications, aripiprazole and risperidone, in 60 patients to see how they affect mitochondria—the energy factories inside cells. Researchers measured changes in mitochondrial activity and related blood markers over 12 weeks. The goa…

This study looked at how often kidney hypodysplasia (a condition where one or both kidneys are small and underdeveloped) runs in families. Researchers collected DNA from 342 children aged 3 months to 18 years to try to find genes that may cause the condition. The goal was to bett…

This study tested how the experimental drug radiprodil interacts with five common medications (warfarin, midazolam, digoxin, rosuvastatin, and omeprazole) in 18 healthy adults. Participants took radiprodil alone and then with each of these drugs to measure changes in drug levels …

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

This completed study looked at how accurately a custom-made implant (called a PSI) could reposition the lower jaw during surgery for overbite or underbite. Eight patients aged 18-40 who needed jaw surgery received the custom implant. The researchers compared the planned jaw posit…

This early study tested whether a new version of the enzyme replacement drug agalsidase beta (made by Biosidus) works similarly to the approved drug Fabrazyme. Twenty-four healthy men received a single infusion of one of the two drugs. Researchers measured how the drug moved thro…

This study followed 7 adults with a milder form of Morquio A disease for 5 years to learn how the condition changes over time. Researchers measured walking ability and other health factors to better understand the disease and improve future treatment evaluations. The goal was to …

This study looked for Fabry disease, a rare genetic disorder, in 409 Portuguese adults with unexplained heart muscle diseases. Researchers tested patients with different types of cardiomyopathy to see how many actually had Fabry disease. The goal was to better understand how comm…

This study looked at two methods to widen the upper jaw in adults whose jawbone has fully grown. One method uses small screws anchored in the roof of the mouth, and the other adds tiny bone punctures to help the jaw separate more easily. Twenty-four adults took part, and the resu…

This study involved 39 adults and children with autoinflammatory diseases like FMF and Still's disease. Researchers conducted interviews to understand how these conditions affect quality of life. The goal was to create a tool that doctors can use to better assess and address pati…

This study looked at how symptoms of hereditary hemorrhagic telangiectasia (HHT) affect patients' quality of life. Researchers used a special questionnaire developed with patient input to measure different aspects like physical limits, worry about bleeding, and social relationshi…

This study looked at 34 children with a narrow upper jaw (maxillary hypoplasia) who needed a rapid palatal expander. Researchers measured the electrical activity of chewing muscles before treatment, right after expansion, and 6 months later. The goal was to see if correcting the …

This completed study involved 55 children with clubfoot who could walk. Researchers showed videos of the children's feet to experienced surgeons and asked for treatment recommendations. The goal was to see if a video-based scoring system (PBS-score) matches what surgeons would re…

This study looked at whether doctors can reliably score clubfoot severity from video recordings instead of in-person exams. 55 children with clubfoot were assessed by multiple raters using a standard scoring tool. The goal was to see if video assessments could be a trustworthy op…

This study looked at 153 first-time mothers in Turkey to see if their body measurements (like height, weight, and hip width) relate to pelvic size and how labor goes. Researchers measured the pelvis through exams and ultrasound, then tracked pain, labor length, and whether delive…

This study looked at 126 children and young adults (up to age 25) with serious, non-progressive neurological diseases like cerebral palsy or brain injury. Researchers wanted to understand the best time to introduce a pediatric palliative care team. They reviewed medical records f…

This pilot study tested whether a combination of two drugs (G-CSF and plerixafor) could safely collect enough stem cells from the blood of children with Fanconi anemia for future gene therapy. Only 4 patients took part, and the main goal was to see if the cell collection process …

This completed study looked at how the pigment layer of the eye works in 30 people with neurofibromatosis type 1. Researchers used special eye tests to measure electrical signals from the pigment layer and compared them to images of the back of the eye. The goal was to confirm ea…

This study looked at 254 newborns with congenital cytomegalovirus (CMV) infection to find early signs that predict hearing loss or other brain-related problems at age 1. Researchers used clinical exams, brain scans, and lab tests to build a scoring system. The goal is to help doc…

This study collected umbilical cord blood and tissue from 16 newborns who have a parent with hereditary hemorrhagic telangiectasia (HHT), a genetic disorder causing abnormal blood vessels. Researchers aim to grow and compare endothelial cells from these babies with cells from hea…

This study looked at 39 people with multiple sclerosis who have chronic vision problems. Researchers used eye exams, scans, and electrical tests to see if the vision loss is caused by nerve scarring (demyelination) or nerve cell death (degeneration). The goal is to better underst…

This completed study followed 477 women in Denmark who had a planned cesarean delivery. Researchers used text-message surveys to track pain levels, medication use, and how pain affected daily life over several months. The goal was to better understand how common persistent pain i…