Hereditary neurological disease

This study tests whether ARD-101 can safely reduce extreme hunger and food-related behaviors in people with Prader-Willi syndrome over 12 months. About 90 participants who completed a prior study will take the drug daily and visit the clinic regularly. The goal is to improve qual…

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 study tested a low dose of the drug bevacizumab (Avastin) against standard laser treatment for retinopathy of prematurity, an eye disease that can blind premature infants. Sixteen babies with severe disease were enrolled. The goal was to see if the drug could control the dis…

This trial tested a single dose of CAP-002 gene therapy in children aged 18 months to 8 years with STXBP1 encephalopathy, a rare genetic brain disorder causing seizures and developmental delays. The study aimed to check safety and whether it could reduce seizures and improve skil…

This study looked at the long-term safety of soticlestat when added to standard seizure medicines for people with Dravet syndrome or Lennox-Gastaut syndrome. It included 352 children and adults who had already been in earlier studies. The trial was terminated early, so results ar…

This early-stage study tested a new drug called PF-07265807 in people with advanced or metastatic solid tumors that had spread. The main goals were to find a safe dose and check for side effects. The trial was terminated early, so results are limited.

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 phase 2 study tested an experimental oral drug called BGB-45035 in 49 adults with moderate to severe rheumatoid arthritis who had not responded well to standard treatments. Participants received either the drug or a placebo to see if it could reduce joint pain and swelling. …

This study looked at the long-term safety of the drug NBI-921352 for people with a rare genetic seizure disorder called SCN8A-DEE. It was an extension of an earlier study, and participants took the drug alongside their usual seizure medications. The study was stopped early and on…

This study looked at whether tesamorelin (Egrifta), a daily injection that boosts growth hormone, can improve body composition in people with HIV who have excess belly fat (lipodystrophy). Six participants received the drug for up to 12 months, with researchers measuring liver fa…

This study tested the anti-inflammatory drug naproxen sodium for treating obsessive-compulsive symptoms in children aged 6-15 with PANDAS, a condition linked to strep infections. The trial was double-blind and placebo-controlled, but it was terminated early after enrolling only 2…

This study tested different warming methods—like forced air blankets and warmed IV fluids—to prevent hypothermia in women having planned C-sections. Only 16 women participated before the trial was stopped early. The goal was to see which method best keeps mother and baby warm and…

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 study tested a new drug called exicorilant (CORT125281) combined with enzalutamide in men with metastatic castration-resistant prostate cancer. The goal was to find a safe dose and check for side effects. The trial was terminated early, so results are limited. It involved 39…

This study offered continued treatment with EryDex to 101 people with ataxia telangiectasia (A-T) who had finished a previous trial. The main goal was to monitor safety, including side effects and serious events. The study was terminated early, and it did not aim to cure the dise…

This study tested the drug fenfluramine (FINTEPLA) in adults with Dravet syndrome whose seizures were not controlled by other medications. The trial was open-label and added fenfluramine to existing treatments. It aimed to see if the drug could reduce monthly seizures by at least…

This early-stage trial tested the safety of an intravenous drug called talineuren (liposomal GM1) in 22 people with Parkinson's disease. The study was open-label and designed to find a safe dose, but it was terminated before completion. No conclusions about effectiveness can be d…

This study tested a drug called IgPro20 (HIZENTRA) to see if it could help people with post-COVID POTS, a condition that causes a rapid heart rate and dizziness when standing. The trial was stopped early after enrolling only 16 adults. The goal was to see if the drug could reduce…

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 whether taking UCB0599 early or later could slow brain changes in people with Parkinson's disease. It involved 428 adults who had already completed an earlier study. The trial was stopped early, but researchers measured brain scans and medication use over 18 …

This study tested the safety of golodirsen (Vyondys 53) in boys and men with Duchenne muscular dystrophy who can no longer walk. Only 2 people took part before the trial was stopped early. Participants received weekly IV infusions for up to 96 weeks, with extra follow-up. The goa…

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

This study tested whether BHV-7000, taken alongside other medications, could reduce generalized tonic-clonic seizures in people with idiopathic generalized epilepsy. The trial was terminated early and enrolled only 27 adults aged 18-75. The main goal was to see how long it took f…

This Phase II trial tested a drug called N-Acetyl-L-Leucine (IB1001) in 17 people with Ataxia-Telangiectasia, a rare genetic disease that affects movement and immunity. The study aimed to see if the drug could improve symptoms and slow the disease over time. The trial was termina…

This study looked at the long-term safety of soticlestat, an experimental drug, in children and adults with severe forms of epilepsy like Dravet syndrome and Lennox-Gastaut syndrome. Participants took soticlestat twice a day along with their usual seizure medicines. The study was…

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 looked at the long-term safety of a drug called troriluzole for people with obsessive-compulsive disorder (OCD) who hadn't improved enough with standard treatments. The trial planned to enroll 772 participants but was terminated early. The main goal was to check for si…

This phase 2 trial tested the drug guadecitabine (SGI-110) in people aged 12 and older with rare cancers like wild-type GIST, pheochromocytoma, paraganglioma, and HLRCC-related kidney cancer that had not responded to other treatments. Participants received daily injections for 5 …

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-phase trial tested a new therapeutic vaccine (EO2401) combined with the immunotherapy drug nivolumab in 70 people with advanced adrenocortical carcinoma or malignant pheochromocytoma/paraganglioma. The goal was to see if the combination is safe and can shrink tumors or…

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 study tested a single injection of a gene therapy called GT005 in 98 people with geographic atrophy, an advanced form of dry age-related macular degeneration that causes vision loss. The goal was to see if the treatment could slow the growth of damaged areas in the eye and c…

This Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…

This study tested a single injection of GT005, a gene therapy, in 255 people with geographic atrophy from dry age-related macular degeneration. The goal was to see if it could slow the growth of blind spots in the eye. The trial was terminated early, so we have less data than hop…

This early-stage trial tested a gene therapy called GT005 for dry age-related macular degeneration (AMD), a leading cause of vision loss. The therapy delivers a working gene to the retina via a single injection. The study enrolled 56 people and focused on safety and dosing, but w…

This phase 1 trial tested a gene therapy called AVXS-101 (Zolgensma) in 32 children with spinal muscular atrophy (SMA) who could sit but not stand or walk. The therapy delivers a working SMN gene via a spinal injection to help improve muscle function. The study focused on safety …

This study was designed to let people who had already taken latozinemab in an earlier study continue receiving the drug. Only 17 people took part, and the study was stopped early. The goal was to track safety and how long people stayed on treatment, not to test if the drug could …

This phase 3 study tested a drug called AL001 in 119 people who carry a mutation in the progranulin gene, putting them at high risk for or already diagnosed with frontotemporal dementia. The goal was to see if AL001 could slow the worsening of memory, behavior, and language probl…

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 study tested a gene therapy for retinitis pigmentosa, an inherited eye disease that causes gradual vision loss. The treatment involved injecting a corrected gene under the retina in one eye. The trial included 19 people aged 13 and older with a specific genetic defect. The m…

This study aimed to see if the drug SAGE-718 is safe for people with Huntington's disease when taken over a long period. It was an open-label study, meaning everyone knew they were getting the drug. The study was terminated early, so results are limited.

This study tested a new drug called VRG50635 in 54 people with ALS (Lou Gehrig's disease). The main goal was to check if the drug is safe and how the body processes it. The trial was stopped early, but researchers were looking for side effects and changes in disease progression.

This study tested whether anti-VEGF injections into the eye could help treat Coats disease, a rare condition that causes abnormal blood vessels and fluid buildup in the retina, potentially leading to blindness. The trial included 18 people with early-stage Coats disease who had n…

This phase 3 trial tested whether adding the immunotherapy drug pembrolizumab (Keytruda) to precise, high-dose radiation (SBRT) could help prevent early-stage non-small cell lung cancer from returning. The study enrolled 448 people with stage I or II lung cancer who could not hav…

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 study tested an experimental drug called losmapimod in 14 adults with FSHD1, a rare genetic condition that causes progressive muscle weakness. The main goal was to check safety and tolerability, and to see if the drug affects certain biological markers. The trial was termina…

This phase 2 study tested a drug called PGN-EDO51 in 7 people with Duchenne muscular dystrophy whose genetic mutation can be corrected by skipping exon 51. The drug was given by IV infusion to see if it is safe and tolerable. The trial was terminated, so results are limited.

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 tested a gene therapy (delandistrogene moxeparvovec) combined with a drug called imlifidase to see if it could safely deliver the therapy to boys with Duchenne muscular dystrophy who had antibodies that might block the treatment. Only 5 participants were planned, but t…

This study tested a new surgical technique for macular holes that remained open after standard treatment. The procedure involves moving a thin membrane from the eye to cover the hole. Only 16 people were enrolled, and the study was stopped early, so we don't yet know if this appr…

This study tested a drug called losmapimod for people with a rare muscle-weakening disease called FSHD. The goal was to see if the drug could slow muscle loss and improve arm function over 48 weeks. About 260 adults with FSHD were randomly assigned to receive either losmapimod or…

This early-stage trial tested a gene therapy called SBT101 for adrenomyeloneuropathy (AMN), a rare nerve disease that causes walking difficulties. Eight adults received either the therapy or a sham procedure. The study was terminated early, so we have limited data on safety and e…

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 an experimental drug called VENT-02 in 29 people with mild to moderate Parkinson's disease. The drug aims to reduce brain inflammation by blocking a protein called NLRP3. The trial was terminated early, so we don't have clear results on whether it helps symptoms…

This Phase 2 trial tested a single dose of gene therapy (fordadistrogene movaparvovec) in 10 boys with early-stage Duchenne muscular dystrophy. The goal was to check safety and whether the therapy could help muscles produce a mini-dystrophin protein. The study was terminated earl…

This study looked at the long-term safety of efgartigimod in adults with post-COVID postural orthostatic tachycardia syndrome (POTS), a condition causing rapid heart rate and dizziness upon standing. The trial was an open-label extension for people who completed a previous study.…

This study follows 7 people with Duchenne muscular dystrophy who previously received an experimental gene therapy called fordadistrogene movaparvovec. Researchers will monitor them for 10 years to check for side effects and see if the treatment continues to help with movement. Th…

This study tested an experimental drug called NBI-921352 in people aged 2 to 21 with a rare, severe form of epilepsy caused by a change in the SCN8A gene. The goal was to see if adding this drug to their current seizure medicines could reduce how often they had seizures. The tria…

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 study tested whether lorcaserin, when added to current medications, could reduce convulsive seizures in people with Dravet syndrome, a severe form of epilepsy. The trial planned to enroll about 22 participants aged 2 and older, but it was terminated early. The main goal was …

This early-stage trial tested two drug combinations—TNO155 plus spartalizumab or ribociclib—in 122 adults with advanced solid tumors like lung, head and neck, and colorectal cancers. The goal was to check safety and see if the drugs could slow cancer growth. The study was termina…

This phase 2 trial tested the drug losmapimod in 76 adults with FSHD, a genetic condition that causes progressive muscle weakness. Participants took either losmapimod or a placebo for 48 weeks to see if the drug was safe and could help control the disease. The study was terminate…

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 phase 3 trial tested the drug miglustat (Zavesca) in 30 infants with Sandhoff or Tay-Sachs diseases, rare genetic disorders that destroy nerve cells. The goal was to see if the drug could reduce hospitalizations, seizures, and feeding problems while improving motor function.…

This early-stage trial tested a single infusion of gene therapy (PF-06939926) in 23 people with Duchenne muscular dystrophy, both those who could still walk and those who could not. The main goal was to check safety and tolerability, while also measuring dystrophin protein levels…

This Phase 2 study tested an oral drug called danicopan in 365 people with geographic atrophy, an advanced form of dry age-related macular degeneration that causes blind spots. Participants took different doses of danicopan or a placebo for up to 104 weeks to see if it could slow…

This early study tested whether a blood-cleaning procedure called plasmapheresis could allow boys with Duchenne muscular dystrophy who have antibodies against the gene therapy carrier to still receive the treatment. Only 3 boys were enrolled before the study was stopped early. Th…

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 early-stage trial tested a gene therapy called AXO-AAV-GM2 in children with Tay-Sachs or Sandhoff disease, rare and fatal genetic brain disorders. The therapy delivers healthy genes directly into the brain and spinal fluid to try to restore a missing enzyme. The study was te…

This study tested a new oral drink (GS3-007a) to diagnose adult growth hormone deficiency (AGHD). It compared the drink to the standard insulin tolerance test in 120 adults suspected of having AGHD and healthy volunteers. The goal was to see if the oral test works as well as the …

This study tested a wearable device that sits on the neck to detect swallowing problems in people with conditions like stroke, Parkinson's, multiple sclerosis, Alzheimer's, or dementia. The device was compared to a standard X-ray test. Unfortunately, the device did not meet the a…

This study looked at whether eating corn rich in zeaxanthin (a natural pigment) could increase the density of the macular pigment in the eye, which may help prevent age-related macular degeneration (AMD), a leading cause of blindness. Nine healthy volunteers aged 20-35 ate a dail…

This phase 3 trial tests whether ARD-101 can reduce the intense, constant hunger (hyperphagia) seen in Prader-Willi syndrome. About 90 participants will take either ARD-101 or a placebo daily for 12 weeks. Caregivers will track changes in hunger-related behaviors using a standard…

This study compares two treatments for transformed migraine (chronic daily headache): a sphenopalatine ganglion nerve block using lidocaine gel applied inside the nose, versus daily oral amitriptyline (Elavil), an antidepressant often used for migraine prevention. Ten adults aged…

This study compared a new, minimally invasive ultrasound-guided procedure to standard surgery for carpal tunnel syndrome. The goal was to see if the new technique could provide similar relief with a smaller incision and faster recovery. Only 7 people were enrolled before the stud…

This study tests whether the drug pregabalin, alone or with a rehabilitation program, can reduce chronic fatigue in people with post-COVID syndrome. Participants are adults aged 18 to 65 who had COVID-19 at least six months ago and still feel very tired. The trial compares four g…

This study tested whether N-acetylcysteine (NAC), an antioxidant, could help reduce impulse control disorders caused by Parkinson's medications. Only 14 people with mild-to-moderate symptoms were enrolled before the trial was stopped early. The goal was to see if 10 weeks of NAC …

This study tested whether smelling lavender essential oil before and during an office hysteroscopy (a procedure to look inside the uterus) could lower women's anxiety and pain. Twenty-two women were randomly assigned to inhale either lavender oil or distilled water (placebo). The…

This study tested a fast-dissolving film (BXCL501) placed under the tongue to quickly reduce severe agitation in older adults with dementia. The trial aimed to enroll many participants but was stopped early after only 5 people joined. Because it ended so soon, we cannot draw reli…

This study tested a new way to treat hand tremors caused by essential tremor or Parkinson's disease using a linear accelerator, a common radiation machine. Instead of one large dose, the radiation was given in three smaller sessions to protect healthy brain tissue. The goal was t…

This study tested a new, short therapy module for people with obsessive-compulsive disorder (OCD) who struggle with compulsive checking. The therapy focuses on fixing unhelpful beliefs about memory that drive the urge to check. Researchers aimed to see if this approach reduces ch…

This study tested a smartphone app that teaches mindfulness meditation to help Black and Latino adults with anxiety during the COVID-19 pandemic. About 400 participants were assigned to one of two mindfulness programs or a waitlist. The trial was terminated early, so we don't hav…

This study tested a drug called AVP-786 to see if it could safely reduce disinhibition—impulsive or inappropriate behavior—in people with neurodegenerative disorders like Alzheimer's or frontotemporal dementia. The trial planned to include many participants but was terminated ear…

This study tested a personalized touchscreen device (My PATI) to help people with Alzheimer's or related dementias communicate their care preferences. The goal was to improve quality of life for both patients and their caregivers. The study was terminated early, so results are li…

This study tested whether a personalized exercise program could reduce fatigue in people with chronic fatigue syndrome. About 101 participants were planned, but the trial was terminated early. The approach involved tailoring aerobic and resistance exercises based on weekly fatigu…

This study looked at whether a brief, noninvasive brain stimulation technique called tDCS could immediately reduce pain and improve function in people with fibromyalgia or chronic fatigue syndrome. About 20 participants received one session, and researchers measured changes in pa…

This study tested whether a cannabis-derived compound called CBDV could safely reduce irritability in children and young adults with Prader-Willi syndrome. Only 6 people enrolled before the study was stopped early. The goal was to see if CBDV helped with mood and behavior problem…

This study tested a robotic device called the G-EO Gait Trainer to help people with Parkinson's disease improve their walking. The device supports the body and guides leg movements to make walking practice safer and more effective. The trial was terminated early, so only limited …

This study looked at whether adding platelet-rich plasma (PRP) to standard carpal tunnel release surgery helps people with severe carpal tunnel syndrome. The trial planned to enroll 15 adults with severe nerve damage. It compared surgery with PRP to surgery alone. The study was t…

This study aimed to see if acceptance and commitment therapy (ACT), a type of talk therapy, could help HIV-positive men with mental health issues like stress and anxiety. Only one person enrolled before the study was stopped early. Because of this, no meaningful results were obta…

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 looked at whether using walking poles during an 8-week independent walking program could improve walking and activity levels in people with Parkinson's disease. Eleven participants were assigned to walk with or without poles at least three times a week. The trial was t…

This study tested a drug called CVL-871 to see if it is safe and can help reduce apathy (lack of motivation or interest) in people with dementia. The trial included 41 participants with mild to moderate dementia and clinically significant apathy. The main goal was to check for si…

This study looked at whether the drug safinamide (Xadago) could improve sleep quality in people with Parkinson's disease. Eleven participants took safinamide for 12 weeks while their sleep was measured. The trial was terminated early, so the results are not conclusive.

This study tested whether a gentle, non-invasive brain stimulation technique (tDCS) done at home, along with computer-based brain games, could improve thinking and language skills in people with primary progressive aphasia, mild cognitive impairment, or dementia. Participants use…

This study tested whether istradefylline, a drug already approved for motor symptoms in Parkinson's, could also improve apathy and motivation. Only 8 people enrolled before the trial was terminated early. The results are too limited to draw any conclusions.

This study tested whether deep brain stimulation (DBS) could help people with severe Tourette syndrome whose symptoms don't improve with medication. Researchers placed tiny electrodes in a part of the brain called the thalamus to try to calm abnormal signals that cause tics. Only…

This study tested whether a stepped-care approach using internet-based cognitive behavioral therapy (ICBT) works as well as group therapy or standard medical care for adults with obsessive-compulsive disorder (OCD). 46 adults in China received one of the three treatments for 6 we…

This study tested whether a high-dose magnetic stimulation (TMS) targeting both motor and cognitive brain areas could better reduce freezing of gait in people with Parkinson's disease compared to standard low-dose stimulation of just the motor area. The trial planned to enroll 64…

This study tested a school-based program called Proud & Empowered, designed to help LGBTQ students cope with minority stress and improve mental health. About 228 high school students took part. The program was led by school counselors and social workers. The study was terminated …

This study looked at whether using the Calm meditation app could help medical residents and fellows at Banner University Medical Center Phoenix feel less stressed, anxious, or burned out during the COVID-19 pandemic. Only 7 people signed up, and the study was stopped early, so we…

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 tested an inhaled form of apomorphine (AZ-009) to quickly treat 'OFF' episodes in people with Parkinson's disease—times when symptoms like stiffness or trouble moving return between regular medication doses. The trial was planned for more participants but was terminate…

This early-stage study aimed to compare how a tablet form of tafamidis is absorbed in the body compared to the existing capsule form. It involved 24 healthy adults who took a single dose of each form under fed conditions. The study was terminated early, so results may be limited.

This study aimed to understand why people with autism or schizophrenia sometimes struggle to recognize emotions on faces. Researchers used brain wave recordings (EEG) and eye-tracking to see how participants processed facial expressions. The study included people with autism, sch…

This study looked at how anesthesia changes brain activity in people with Parkinson's disease or essential tremor who were already scheduled for deep brain stimulation (DBS) surgery. Researchers recorded brain signals during a short period of anesthesia to understand which circui…

This study looked at people with cone disorders, a type of inherited eye disease that affects color vision and sharp sight. Researchers analyzed genetic changes of unknown significance to see if they cause disease. The goal was to improve genetic diagnosis, not to test a treatmen…

This study looked at whether peeling a thin membrane inside the eye (the internal limiting membrane) during surgery for a detached retina helps patients see better and prevents scar tissue. The trial was stopped early after enrolling only 21 people, so the results are not strong …

This study tested whether two gut hormones, GIP and GLP-2, could reduce bone breakdown in children with spinal muscular atrophy, cerebral palsy, or Duchenne muscular dystrophy who use wheelchairs. Participants received a liquid meal and then either a hormone injection or a placeb…

This study tested a new, non-invasive eye imaging method called hyperspectral imaging. It takes pictures of the back of the eye using many different colors of light to find details not visible with standard cameras. About 679 adults with healthy eyes or eye diseases like diabetic…

This study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…

This study looked at how a gentle brain stimulation technique called tDCS affects thinking and behavior in children aged 10-17 with obsessive-compulsive disorder (OCD). The goal was to understand brain processes linked to OCD, not to treat the condition. Only 6 participants were …

This study aimed to find brain and movement markers in people with a type of depression that doesn't respond to standard antidepressants, called anhedonic depression. Researchers measured brain waves (P300), walking speed, and hand movements in 36 participants. The goal was to id…

This study followed 7 people with Mucolipidosis Type IV (MLIV) to learn how the disease naturally progresses. Researchers used tests like neuropsychological exams, blood and urine tests, and brain MRIs to find better ways to measure the disease. The goal was to improve future cli…

This study looked at over 100 people with inherited retinal dystrophies, a group of rare eye diseases that can cause vision loss. Researchers collected genetic and eye exam data to find links between specific gene mutations and symptoms. The goal was to better understand these di…

This study tested a new questionnaire called Prolac-10 to see if it can accurately measure quality of life in people with prolactinoma (a type of pituitary tumor) who are starting medical treatment. Only 8 people took part before the study was stopped early. The goal was to check…

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 followed 65 adult men with a rare inherited nerve disease called AMN (a form of spastic paraplegia) to understand how their symptoms change over time. Researchers collected data on walking ability and quality of life. The goal was to fill gaps in knowledge about the di…

This study aims to find out how common transthyretin amyloidosis cardiomyopathy (ATTR-CM) is in Russian patients with a certain type of heart failure. Researchers will review medical records and then invite some patients for extra heart tests to confirm or rule out ATTR-CM. The g…

This study looked at one person with facioscapulohumeral muscular dystrophy (FSHD) to better understand the disease. Researchers examined muscle tissue and checked for specific biomarkers. The goal was to learn more about how FSHD affects the body, not to test a treatment.

This study follows up on children with Krabbe disease who received a one-time gene therapy infusion (FBX-101) in earlier trials. Researchers will monitor safety and measure motor skills over time. Only 2 participants are enrolled, so results are very limited.

This study tested a small device implanted under the scalp to record brain waves (EEG) continuously for up to 12 weeks in people with epilepsy. The goal was to see if it could detect seizures better than standard short-term hospital monitoring and patient diaries. The trial invol…

This study looked at whether intensive treadmill exercise can improve motor symptoms and reduce inflammation in people with early-stage Parkinson's disease. Researchers measured changes in movement scores and blood markers of nerve damage and inflammation in 30 patients who eithe…