Clinical trials on Achondroplasia

Achondroplasia Overview

Achondroplasia is a genetic disorder that is one of the most common causes of dwarfism. It is characterized by a distinct appearance, including a larger head (macrocephaly), shortened limbs, and a normal-sized torso. The condition is caused by mutations in the FGFR3 gene, which plays a crucial role in the development of bones and the brain. Specifically, these mutations lead to an abnormality in the conversion of cartilage into bone, particularly in the long bones of the arms and legs, resulting in the characteristic short stature associated with this condition.

Individuals with achondroplasia often face various health challenges, including breathing difficulties, obesity, and an increased risk of ear infections. They may also experience spinal stenosis, a condition that can lead to compression of the spinal cord and require surgical intervention. Despite these potential complications, many people with achondroplasia lead full and active lives. Treatment typically focuses on managing symptoms and may include growth hormone therapy, though its effectiveness varies. Orthopedic surgery can also be an option to correct or alleviate some of the skeletal abnormalities associated with achondroplasia.

It is important to note that achondroplasia is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is necessary to cause the disorder. However, most cases result from new mutations in the gene and occur in families with no history of the condition. Genetic counseling is recommended for individuals with achondroplasia or those who have a family history of the disorder, as it can provide valuable information regarding the risk of passing the condition to future generations.

Achondroplasia Overview

Achondroplasia is a genetic disorder characterized by a shorter stature and disproportionate limb size. The long-term prospects for those with achondroplasia generally involve normal intelligence and lifespan, with many leading fulfilling lives. However, there may be encounters with specific health challenges related to the condition, such as difficulties with mobility and potential respiratory issues. Regular monitoring and supportive care can help manage these aspects, allowing for the maintenance of an active and healthy lifestyle. It is important for ongoing assessments to be received in order to address any orthopedic or neurological concerns that may arise throughout the lifespan. With appropriate support, most individuals with achondroplasia can adapt to their unique physical stature and enjoy a quality of life comparable to the general population.

Health Challenges Associated with Achondroplasia

Achondroplasia, a common form of dwarfism, is associated with various health challenges. Significant complications include:

  • Spinal stenosis – A narrowing of the spinal canal that may cause pain and mobility issues.
  • Ear infections – Frequent due to the shape of the ear canals, with potential consequences such as hearing loss.
  • Obesity – A common concern, potentially exacerbating joint and spine problems.
  • Sleep apnea – Characterized by repeated stops and starts in breathing during sleep, affecting overall rest and health.
  • Joint issues, particularly in the elbows and knees, may limit movement and cause discomfort.
  • Delayed motor development in children with achondroplasia can impact daily activities.

These complications can affect not only physical health but also emotional well-being, as they may influence social interactions and personal independence.

Managing Achondroplasia

For the management of achondroplasia, various non-clinical trial approaches are recommended. Emphasis is on:

  • Nutrition – Ensuring a balanced diet that supports overall health.
  • Physical activity – Tailored to individual capabilities, focusing on exercises that enhance muscle strength and flexibility without overstraining the joints.
  • Pharmacotherapy – May involve medications to address symptoms such as pain or discomfort, though these are prescribed on a case-by-case basis.
  • Growth hormone therapy – Has been explored, but consultation with a healthcare provider is important for personalized advice.

Modern technology offers innovative solutions, such as specialized orthopedic devices to aid mobility. These can be custom-fitted to improve comfort and function. Additionally, apps and software designed for health monitoring can assist in managing daily activities and tracking progress. Treatment options are considered with the unique needs of patients in mind, aiming to improve quality of life through a combination of lifestyle adjustments, appropriate medication, and the use of assistive technologies.

  • CT-EU-00110930

    Long-Term Study of BMN 111 Treatment for Children with Dwarfism

    This here study is called “An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia“. It’s an open study, meaning everybody knows what treatment they’re getting, and it’s happening at multiple locations with around 70 young’uns participating.

    The main aim is to keep an eye on the safety of BMN 111, also known as Vosoritide, which is a modified human protein that gets injected under the skin once a day. The dose depends on the child’s weight and age. The study also wants to see how well BMN 111 helps increase height in these kids with achondroplasia, which is a genetic condition that causes short stature.

    The study will last around 5 years on average, and the researchers will be closely monitoring any side effects or adverse events that might pop up during treatment. They’ll also be measuring the children’s height over time to see how much BMN 111 helps ’em grow compared to their expected growth without treatment.

    So in a nutshell, it’s all about making sure this new medicine is safe for the little ones and seeing if it can give ’em a boost in height over the long run. Safety first, but hopefully it’ll help ’em reach a bit taller than they might’ve without BMN 111.

    • BMN 111
  • A Trial of Weekly TransCon CNP for Children with Achondroplasia

    This here clinical trial, called ACcomplisH, is aimin’ to test out a new drug called TransCon CNP for young’uns aged ‘tween 2 and 10 years old who got that condition called Achondroplasia. It’s a fancy new medicine that comes as a powder what needs to be mixed with some water ‘fore it gets injected under the skin once a week.

    Now, this trial is what we call a double-blind study, meanin’ neither the doctors nor the young’uns know who’s gettin’ the real medicine and who’s gettin’ a placebo, which is like a fake medicine with no active ingredients. That’s to make sure the results ain’t influenced by nobody’s expectations.

    The main thing the doctors’ll be lookin’ at is how fast the young’uns grow in height over the 52 weeks they’re takin’ the medicine or the placebo. They’ll measure that by calculatin’ what’s called the Annualized Height Velocity, which is just a fancy way of sayin’ how much the young’un grew in a year.

    So in a nutshell, this trial aims to see if this new TransCon CNP medicine can help young’uns with Achondroplasia grow taller and faster compared to those takin’ the placebo. And the doctors’ll be keepin’ a close eye on everythin’ to make sure the medicine is safe too.

    • TransCon CNP
    • Placebo for TransCon CNP
  • Clinical Trial to Evaluate Safety of Vosoritide in Infants at Risk for Achondroplasia Surgery

    This here clinical trial, called “A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia“, is aimin’ to take a good look at the safety of a new medicine called Vosoritide. It’s a Phase 2 study, which means they’re still testin’ out this medicine to make sure it’s safe and works like it’s supposed to.

    Now, this trial is for little ones, infants and young’uns, who’ve been diagnosed with Achondroplasia. That’s a condition where the bones don’t grow properly, and some of these young’uns might need surgery to fix a problem with their spine and neck area, called cervicomedullary decompression surgery.

    The main thing they’re lookin’ at in this study is how safe and well-tolerated this Vosoritide medicine is for these little ones. They’ll be keepin’ a close eye on any side effects or problems that might come up from takin’ the medicine, all the way up to 260 weeks, which is a mighty long time.

    So, if you’ve got a little one with Achondroplasia who might be at risk for needin’ that spine surgery, this here trial could be worth lookin’ into. Just remember, it’s still in the testin’ phase, but they’re hopin’ this new medicine might help make things easier for these young’uns and their families.

  • Evaluating New Weekly Injection for Growth in Children with Achondroplasia

    This here clinical trial is aimin’ to test out a new medicine called TransCon CNP for young’uns aged 2 to 11 years old who got that Achondroplasia condition. Achondroplasia is a genetic disorder that causes them little sprouts to grow slower than normal.

    The main goal of this trial is to see if givin’ these youngsters a weekly shot of TransCon CNP can help ’em grow taller over the course of a year, compared to a placebo shot that don’t got no medicine in it. The doctors’ll be keepin’ a close eye on how fast the kids grow in height over that 52-week period while they’re gettin’ them shots.

    After that first year of gettin’ either the real medicine or the placebo, all the young’uns will then get the actual TransCon CNP medicine for another 52 weeks. This lets the doctors check if the medicine is safe for the kids to take over a longer stretch of time.

    So in a nutshell, this trial aims to find out if TransCon CNP can give them Achondroplasia young’uns a much-needed growth spurt, and if it’s safe for ’em to take for an extended period. The folks runnin’ this trial are hopin’ this new medicine can make a real difference for kids strugglin’ with restricted growth.

    • TransCon CNP
    • Placebo for TransCon CNP
  • Testing a new drug (SAR442501) for safety and effectiveness in children with achondroplasia

    This is a Phase 2 clinical trial investigating the safety, tolerability, and efficacy of an investigational drug called SAR442501 in children from birth up to 12 years of age with Achondroplasia, a type of skeletal dysplasia. The study will involve administering SAR442501 as a subcutaneous injection (under the skin) to participants. The primary objective is to evaluate the number of participants who experience adverse events, serious adverse events, and adverse events of special interest during the first 52 weeks of treatment.

    The study will have a screening period of 3 weeks, followed by a 52-week primary treatment period, and then an extended treatment period of up to approximately 216 weeks (over 4 years). After completing the treatment periods, participants will undergo a 4-week follow-up period. The total duration of the study could be up to approximately 275 weeks (over 5 years).

    This clinical trial aims to gather important information about the safety profile, tolerability, and potential efficacy of SAR442501 in treating Achondroplasia, a rare skeletal disorder, in children. Participants will be closely monitored throughout the study to ensure their well-being and to collect valuable data that could contribute to the development of a potential new treatment option for this condition.

    • SAR442501
  • Testing infigratinib in children aged 3 to 11 years with achondroplasia

    This study focuses on evaluating the medication Infigratinib in young children aged 3 to 11 diagnosed with Achondroplasia who previously participated in the PROPEL study for at least 6 months. The primary objectives of this study are to assess the safety profile of Infigratinib in this specific age group, evaluate the children’s tolerance to potential side effects, and investigate the therapeutic efficacy of the medication for treating Achondroplasia. During the study, doses of Infigratinib will be incrementally increased to determine the optimal and most effective dosage for the participants.

    • Infigratinib
  • Long-term study of infigratinib for the treatment of achondroplasia in patients aged 3 years to 18 years

    In the PROPEL OLE study, researchers are evaluating the long-term efficacy and safety of Infigratinib in children with Achondroplasia (ACH). Infigratinib targets specific proteins known as FGFR 1-3, which play a crucial role in growth and development. This extension study involves children who have previously participated in a trial and potentially includes those who have not received prior treatment. Before initiating the study, new participants will undergo a six-month monitoring period in the PROPEL study to assess their growth. Additionally, researchers will evaluate the impact of the drug on the children’s quality of life.

    • Infigratinib