The purpose of the study is to assess the long‑term safety of the investigational product in people who have received it and in those who have not. Participants are followed for many years with regular visits that include physical measurements, blood and urine tests, heart rhythm checks, and neurological examinations. Any serious health events, such as episodes of high ammonia called hyperammonemic crises, are recorded, and information about growth, liver function, and overall health is collected to monitor how participants fare over time.

The purpose of the trial is to determine whether daily treatment with Engasertib reduces the frequency of epistaxis compared with placebo over a period of about 28 weeks. Participants will receive either the study drug or placebo each day, keep a simple diary to record each nosebleed event, and attend regular clinic visits where basic health checks and blood work are performed to monitor safety. The study is conducted in a double-blind manner, meaning that neither the participants nor the study staff know which treatment is being taken, which helps ensure unbiased results.

The purpose of the study is to see how well Concizumab works in preventing bleeding episodes compared to the previous treatment the children were receiving. The study will involve children who have not used Concizumab before. Participants will receive regular injections of Concizumab over a period of time, and the number of bleeding episodes they experience will be monitored and compared to their previous treatment.

Throughout the study, researchers will also keep track of any side effects or reactions to the medication, such as injection site reactions or the development of antibodies against Concizumab. The study aims to provide valuable information on the safety and effectiveness of Concizumab in managing bleeding episodes in young children with hemophilia.

The purpose of the study is to find out whether daily treatment with Elamipretide can improve heart and muscle function and be safe to use. Participants will be asked to receive the assigned injection each day for a period of about one and a half years, with regular clinic visits to monitor health, record any side effects, and perform simple walking and strength tests.

During the visits, researchers will measure how far a person can walk in six minutes, how quickly they can stand up and sit down several times, and the strength of certain leg muscles using a handheld device. These tests help show any changes in the ability to move around and perform daily activities, as well as overall disease severity as judged by both the participant and the doctor.

During the trial, participants will receive the study medication at scheduled visits over a period of about three years, with regular check‑ups to monitor health and progress. Simple tests will be used to measure changes in walking, balance, and everyday skills, including a movement assessment that looks at major milestones such as standing and walking, and a developmental test that evaluates thinking and learning abilities. The study is a phase 3 trial, which means it is a large‑scale test designed to confirm the benefits and safety of the therapy before it may become widely available.

The main goal of the trial is to find out whether this intranasal stem cell therapy can safely reduce brain injury and improve motor abilities in affected infants. Babies with a confirmed diagnosis on a brain scan are randomly assigned to receive either the stem cell drops or a placebo that looks the same but contains no active cells. Over the next two years, the children are monitored for safety, including regular check‑ups and brain imaging using MRI, a technique that creates detailed pictures of the brain without surgery.

Developmental progress is measured with the Bayley-IV-NL motor score at 24 months, which evaluates how well a child can move and control muscles. Additional assessments look at thinking skills, the presence of cerebral palsy, seizures, and vision or hearing problems. Families also complete questionnaires about quality of life, and any serious health events are recorded throughout the study period.

The main goal of the study is to see whether a single dose of the medicine is safe and whether it can raise protein levels to a normal range, with some participants receiving a second dose later to assess longer‑term effects. Participants will receive the infusion, then attend regular visits over several months during which blood samples and simple health checks are performed.

Researchers will watch for any side effects, measure the amount of the protective protein in the blood, and test how well it works using a laboratory test called a elastase inhibition assay. They will also check lung function and liver health through routine exams and questionnaires to understand how the treatment impacts overall well‑being.

The purpose of the study is to evaluate whether the new medicine can lower the number of treated bleeds compared with standard therapy. Participants will be assigned to receive either the new medicine or the standard factor VIII for about six months, attending regular visits where any bleeding events are recorded, quality‑of‑life questionnaires are completed, and safety checks such as blood tests for antibodies or reactions at the injection site are performed. The trial will monitor how often injections are needed, the amount of medicine used, and any side effects that arise during the treatment period.

The purpose of the trial is to determine whether NXT007 works at least as well as Emicizumab in preventing bleeds. Participants receive regular injections for several months and attend scheduled visits where doctors check their health, collect blood samples, and ask about daily activities and quality of life. The main way the study measures success is by counting the average number of bleeding episodes that need treatment each year, called the annualized number of treated bleeds.

Throughout the study, safety is closely watched. Researchers look for any side effects such as reactions at the injection site, allergic responses, or signs of clotting problems. Participants also complete simple questionnaires about how their condition affects everyday life, helping to assess both the medical and personal impact of the treatments.

The purpose of the study is to evaluate the safety of this single administration. After the infusion, participants are followed for about a year, with regular visits that include physical exams, vital sign checks, blood tests, and heart rhythm recordings (ECG). Doctors will watch for any side effects and will also test the blood to see if at least 10 % of the white blood cells show restored granulocyte function, indicating that the gene therapy is working. The study does not involve a comparison group.

When a participant comes to the emergency department with a crisis, they receive either the inhaled medication or an oral opioid pill. Their pain level is recorded every ten minutes for the first hour using a line‑marking tool called the Visual Analog Scale. After one hour, the patient rates their overall satisfaction on a numbered rating system known as the Likert scale, and the attending nurse also records a satisfaction rating. Throughout the stay, the amount of any additional pain medicines given, the length of the hospital visit, and basic safety checks are noted, after which the patient is discharged.

The purpose of the trial is to evaluate the safety and efficacy of the new combination therapy. Over a period of about four weeks, subjects will take the study medication once daily, while other participants receive a matching placebo. Safety will be monitored through reports of any side effects, regular blood tests, standard 12‑lead ECG recordings to check heart rhythm, and measurements of Sweat chloride levels, which reflect how the disease is affecting the body.

Effectiveness will be assessed by measuring lung function using the percent predicted forced expiratory volume in one second (ppFEV1) and by having participants complete a disease‑specific questionnaire that evaluates breathing symptoms (CFQ R). The study involves several clinic visits for these tests and for overall health checks.

The study has two parts. In the first part, different doses of BMN 333 are compared with vosoritide. In the second part, one selected dose of BMN 333 is compared with vosoritide. The study lasts about one year for each child after treatment starts. During the study, treatment is given as a shot under the skin, and regular checkups are done to follow the child’s growth and overall health.

The study looks at growth over time, including annual growth velocity, which means how much a child grows in one year. It also follows body measurements and checks for side effects, including changes in heart tracing tests, blood tests, and X-rays. These checks are used to help understand both the benefits and the risks of the medicines being studied.

Participants in this study will be assigned to receive either MRM-3379, which is taken as a hard capsule by oral use, or a placebo. This is a double-blind study, meaning that neither the participants nor the researchers know who is receiving the active medication or the placebo during the course of the trial. The study will monitor how the body processes the drug and observe any side effects that may occur.

Participants in this study will be randomly assigned to receive either the experimental drug CSL624, which contains vamifeport trihydrochloride in a hard capsule form, or a placebo. The study is double-blind, meaning neither the participants nor the researchers know which treatment is being administered. During the study, the amount of iron in the liver will be monitored using MRI, a type of medical imaging that uses magnets to create detailed pictures of the inside of the body, to measure the liver iron concentration.

The main goal of the trial is to find out whether the study drug is safe and can improve the symptoms of Rett syndrome. Participants are randomly assigned to receive either the medication or the placebo, and neither the participants nor the researchers know which one is being given. The treatment period lasts about three months, during which caregivers and clinicians complete questionnaires about behavior, sleep, and communication, and routine heart checks are performed. After the initial phase, participants may continue in an open‑label extension where all receive the active medication, allowing further observation of long‑term safety and benefit.

The aim of the study is to evaluate the long‑term safety of the medicine and to see if it can help increase height. Participants will take the capsule each day and attend regular visits where doctors check vital signs, perform blood tests, eye and dental exams, and take simple scans such as X‑rays and a bone‑density scan called dual x‑ray absorptiometry to monitor growth. Height will be measured over time and compared with standard growth charts.

The primary purpose is to determine whether clemastine produces overall improvement in daily functioning as observed by caretakers. The trial is designed so that participants are assigned by chance (randomized) to either the active drug or the control tablet (placebo), and neither the participants nor the caretakers know which one they receive.

Participants will take the assigned tablet for a defined period while attending regular visits. During these visits, caretakers will complete questionnaires about behavior, fatigue, sleep, anxiety and quality of life, and simple physical tests such as a short walking assessment may be performed. Blood samples may also be collected to study how the drug is absorbed and cleared from the body (pharmacokinetics). After the treatment phase, the collected information will be analyzed to assess safety and any potential benefits.

The purpose of the study is to evaluate the safety and effectiveness of AAVB-039. The investigation is divided into two parts. The first part focuses on finding the safest and most appropriate amount of the medicine to use. The second part examines how well the treatment works at that specific dose over time.

Participants in the study will be monitored to observe any changes in their vision and the health of their eyes. This includes checking the ellipsoid zone, which is a specific layer of cells in the retina that is important for clear vision, and the macula, the part of the eye responsible for detailed central sight. The study will track these changes over several years to understand the long-term impact of the treatment.

The medication used in this procedure is bleomycin sulfate, which is administered as a solution for injection. During the study, participants undergo the treatment, and their progress is monitored over time. This includes using MRI, a type of imaging that uses magnetic fields to create detailed pictures of the body, to check for changes in the size of the affected area. The follow-up periods occur at three months and twelve months after the procedure to evaluate how well the treatment worked and to monitor any side effects.

The treatment being investigated is ION582, which is a type of antisense oligonucleotide. This is a specialized substance designed to target and interact with specific parts of genetic instructions to help manage the effects of the disease. The medication will be delivered through an intrathecal injection, which is a method where the medicine is injected into the fluid surrounding the brain and spinal cord.

During the study, participants will receive the medication and undergo regular follow-up periods to monitor how they are doing. The duration of the observation for participants is approximately 52 weeks. This process allows for the monitoring of various aspects of health and development over time.

During the study, the treatment will be administered over a period of up to five days. The researchers will observe the impact of the medication on the amount of opioid, a type of strong pain medicine, required by patients during their time in the hospital. The total hospital stay for these episodes may last up to 21 days.

During the study, participants will receive the medication ISIS 721744. Researchers will monitor how the body handles the drug and look for any side effects. The study will also observe changes in plasma, which is the liquid part of the blood, and levels of plasma kallikrein, a specific protein involved in the swelling process. This investigation will take place over a period of 12 months to see how the treatment affects the frequency and severity of swelling episodes.

Participants in the study will receive either nucresiran or vutrisiran, which is a currently used treatment for this condition. These medications are administered as a subcutaneous injection, meaning the medicine is injected into the fatty tissue just under the skin. During the study, the effects of these drugs on nerve function and the levels of a protein called transthyretin in the blood will be observed over time.

During the study, researchers will monitor levels of NAA, a specific substance in the body that is often low in individuals with this condition, by testing the fluid around the brain and urine samples. The study will also look at changes in the brain using SyMRI, a specialized type of magnetic resonance imaging, to observe the amount of protective coating in the brain over time. Additionally, participants will be assessed on their physical movements, such as sitting, crawling, and walking, as well as their communication and fine motor skills to understand how the treatment might influence their development.

During the study, infants will receive either dexmedetomidine or a placebo through an intravenous infusion, which means the medication is delivered directly into a vein. Participants will be assigned to one of these two groups by chance. The process involves monitoring the infants while they are receiving breathing support to see how the different treatments affect their need for pain medication and their overall comfort levels.

Participants in this research have already completed a prior study involving the administration of romosozumab via subcutaneous injection, which is a method of delivering medication through a needle into the fatty layer of the skin just under the surface. The study involves monitoring these individuals over time to observe any adverse events, which are unexpected or undesirable medical occurrences that may happen after using a drug.

The purpose of the study is to compare the effects of Odevixibat with a placebo in children with Biliary Atresia. Participants will receive either Odevixibat or a placebo once daily. The study will last for up to 104 weeks, during which time the health of the participants will be closely monitored. The main focus will be on the time it takes for participants to require a liver transplant or experience other serious health issues related to their liver condition.

Throughout the study, various health parameters will be assessed, including liver function tests and overall health status. The study aims to provide valuable information on whether Odevixibat can help improve the outcomes for children with Biliary Atresia who have had the Kasai procedure. Participants will be regularly checked for any side effects or changes in their health to ensure their safety during the trial.

The purpose of this study is to find out if the gene therapy treatment can help patients become independent from blood transfusions. Before the treatment, doctors will collect stem cells from the patient’s own blood, modify these cells in a laboratory to add the working gene, and then give them back to the patient through an infusion into a vein. The study will follow patients for several years after they receive the treatment to check if they no longer need regular blood transfusions and to monitor their safety.

The study will measure success mainly by counting how many patients can go for at least twelve continuous months without needing any blood transfusions while maintaining a healthy level of hemoglobin in their blood. Doctors will also track the overall survival of patients and carefully watch for any side effects or safety concerns related to the treatment. The study includes both children and adults with this condition who have been receiving regular blood transfusions.

The purpose of this study is to see if atumelnant is safe and works well in children with congenital adrenal hyperplasia, and whether it can help reduce the amount of glucocorticoid medicine they need to take while keeping their hormone levels normal. The study is divided into three parts. In Part A, participants will receive atumelnant for eight weeks to check how safe it is and to measure changes in a hormone called androstenedione, which is one of the androgens that becomes too high in people with this condition. In Part B, which lasts twenty-eight weeks, the study will look at whether atumelnant allows doctors to lower the daily dose of glucocorticoid medicine while keeping androstenedione levels normal. Some participants may receive placebo. In Part C, which is a long-term extension, participants who completed Part A or Part B can continue treatment to see how atumelnant works over a longer period of time.

During the study, participants will have regular visits where doctors will check their hormone levels through blood tests, monitor their safety, and measure how much medicine is in their blood. The study will also look at changes in another hormone called 17-hydroxyprogesterone, which is also elevated in people with congenital adrenal hyperplasia. The doctors will carefully watch for any side effects and see how well participants tolerate the medicine. Throughout the study, participants will continue to take their regular replacement hormone medicines, and doctors will adjust the doses as needed based on how the participant responds to atumelnant.

The purpose of this study is to look at how safe GTX-102 is and whether it helps improve symptoms in people with Angelman Syndrome. The study will examine different age groups and types of the condition separately. For younger children with deletion-type Angelman Syndrome, the study will measure thinking skills. For older children with certain types of the condition, the study will look at multiple areas including thinking, communication, behavior, sleep, and movement. For adults with any type of Angelman Syndrome, the study will focus on communication skills, behavior, and movement abilities. The study will track any side effects that occur and how severe they are.

People taking part in the study will receive the treatment for up to 48 weeks. During this time, they will have regular visits where doctors will check their progress using various tests and assessments. These assessments will measure changes in cognitive abilities, communication skills, motor function, behavior, and sleep patterns. The study will use several standard tools to measure these changes, and will compare how people are doing at different points during the treatment compared to when they started. The study is expected to continue until 2030 and will include both children and adults with Angelman Syndrome.

The purpose of the study is to find out if infigratinib is safe and works well in babies and young children with achondroplasia who are younger than three years old. The study is divided into several parts. The first part will test different single doses of the medication to find the right dose to use in later parts. The next part will confirm that the chosen doses are safe and will check how the medication moves through the body. The main part of the study will compare infigratinib to placebo over a period of time to see how well it works and whether it is safe. After completing the main part, children can continue in an extension part of the study until they reach three years of age.

During the study, children will be checked regularly for any side effects and changes in their health. Doctors will measure body length and compare it to growth charts made specifically for children with achondroplasia. They will also measure the ratio between the upper and lower parts of the body, head size compared to body length, and will check bone development using x-rays. Some children will have an MRI scan to look at skull and brain shape. The study team will track when the soft spots on the head close, monitor sleep problems, check if any surgeries are needed, and assess the child’s development of movement, language, thinking, and social skills. Parents or guardians will also answer questions about the child’s quality of life.

The study is designed as a randomized, double-blind, placebo-controlled trial with an extension phase. This means that participants will be assigned by chance to receive either the study medication or placebo, and neither the participants nor the doctors will know which treatment is being given during the main part of the study. The study will involve adults between 18 and 45 years of age who have been diagnosed with Alport syndrome. Participants will need to have certain levels of kidney function and protein in their urine to take part. They will also need to be taking certain medications for their kidneys, specifically medicines known as ACE inhibitors or ARBs, which are commonly used to help protect the kidneys.

During the study, measurements will be taken to see how the treatment affects the amount of protein in the urine over time. The main focus will be on measuring the ratio of protein in the urine at specific time points during the treatment period, specifically at 16, 20, and 24 weeks. The study will also monitor participants for any unwanted effects or side effects that may occur during treatment. After the main treatment period, there will be an extension phase where participants may continue to be followed to gather more information about the long-term effects of the medication.

The purpose of the study is to see how ilofotase alfa affects certain substances in the blood of adults with hypophosphatasia. Specifically, researchers want to measure changes in two substances called inorganic pyrophosphate and pyridoxal 5′-phosphate after patients receive either a low dose or a high dose of the medication. The study will look at the biochemical profile, which means the levels of various substances in the blood, to understand how the medication works in the body.

During the study, patients will receive a single dose of ilofotase alfa through an intravenous infusion. The medication will be prepared from a concentrate for solution for infusion. Patients will be monitored to see how their blood chemistry changes after receiving the treatment. This is an open-label pilot trial, which means both the patients and doctors will know what treatment is being given, and it involves a small number of participants to gather initial information about how the medication affects adults with this rare condition.