The Food and Drug Administration has approved Trofinetide for the treatment of Rett syndrome. Acadia Pharmaceuticals announced on the 10th of October, 2023 that the new drug has been approved by FDA for adults and pediatric patients two years of age and older. Trofinetide, sold under the brand name Daybue is the first and only drug approved for the treatment of Rett syndrome.
 |
| Child with Rett Syndrome |
Rett syndrome is a rare neurological disorder that primarily affects females. Affected Patients with this syndrome lose language and motor skills. This syndrome typically affects approximately 9000 in the United States. However, estimates suggest that Rett syndrome may affect between 1 in 10,000 to 1 in 15,000 live female births.
Since Rett syndrome almost exclusively affects females. This means that there may be around 8,000 to 10,000 individuals with Rett syndrome in the United States. However, it is important to note that these are rough estimates and the actual number may vary.
According to doctors, in a nutshell, this is a breakthrough not only for Rett syndrome but for the whole field of rare neurodevelopmental diseases. According to the company, the newly FDA-approved treatment is expected to become commercially available by the end of April 2023.
According to the CEO of the International Rett Syndrome Foundation Melissa Kennedy, this a meaningful moment for the Rett syndrome community, patients and caregivers who have eagerly awaited the arrival of an approved treatment for this condition.
After Reading this article following questions may arise in your mind.
1 What is Rett syndrome caused by?
2 Is Rett syndrome a form of autism?
3 Can girls with Rett syndrome talk?
4 Do children with Rett syndrome walk?
5 At what age is Rett syndrome usually diagnosed?
6 Does Rett syndrome affect IQ?
7 Are people with Rett syndrome intelligent?
8 What drug is FDA approved for Rett syndrome?
9 What class of drug is Trofinetide?
10 What is the mechanism action of Trofinetide?
Let's find out the answers to these interesting questions.
1 What is Rett syndrome caused by?
Rett syndrome is a rare genetic disorder that affects brain development, primarily in girls. It is caused by a mutation in the MECP2 gene on the X chromosome. This gene provides instructions for making a protein that plays a role in the development of the nervous system. The mutation in the MECP2 gene causes a deficiency or abnormality in the MeCP2 protein.
This abnormality leads to the characteristic symptoms of Rett syndrome. However, it is important to note that not all cases of Rett syndrome are caused by a mutation in the MECP2 gene. In rare cases, other genes may be involved.
2 Is Rett syndrome a form of autism?
Rett syndrome is a rare genetic disorder that affects brain development, primarily in girls. It is caused by a mutation in the MECP2 gene on the X chromosome. This gene provides instructions for making a protein that plays a role in the development of the nervous system.
The mutation in the MECP2 gene causes a deficiency or abnormality in the MeCP2 protein, which leads to the characteristic symptoms of Rett syndrome. However, it is important to note that not all cases of Rett syndrome are caused by a mutation in the MECP2 gene. In rare cases, other genes may be involved.
3 Can girls with Rett syndrome talk?
Girls with Rett syndrome typically experience a regression in their language skills, and many of them may eventually lose the ability to speak. However, not all girls with Rett syndrome experience the same symptoms. Some may retain some level of language skills throughout their lives.
During the early stages of Rett syndrome, affected children may have some language development and use simple words and phrases. However, as the condition progresses, they may begin to lose these abilities and experience a decrease in their overall communication skills.
In some cases, girls with Rett syndrome may also develop alternative forms of communication, such as using gestures, eye contact, or assistive devices. It is important to note that the severity of symptoms and the degree of language loss can vary widely among individuals with Rett syndrome.
4 Do children with Rett syndrome walk?
Children with Rett syndrome often experience delays in their motor development, including delays in walking. In some cases, affected children may never learn to walk or may lose the ability to walk as the condition progresses. The motor symptoms of Rett syndrome typically begin to appear between 6 and 18 months of age.
Affected children may experience a regression in their motor skills. This regression can include a loss of purposeful hand movements. It also includes decreased muscle tone (hypotonia), and difficulties with coordination and balance.
While many children with Rett syndrome may eventually lose the ability to walk. It is important to note that not all individuals with Rett syndrome experience the same symptoms or progression of the condition. Some individuals with Rett syndrome may retain some level of walking ability throughout their lives, while others may require assistive devices such as wheelchairs or walkers to assist with mobility.
5 At what age is Rett syndrome usually diagnosed?
Rett syndrome is usually diagnosed in girls between 6 and 18 months of age when they begin to show symptoms. However, in some cases, the diagnosis may be delayed until later in childhood or adolescence, especially if the symptoms are mild or atypical.
The diagnosis of Rett syndrome is typically based on a combination of clinical features. These include loss of hand skills and language abilities, as well as genetic testing to confirm the presence of a mutation in the MECP2 gene. Other tests, such as brain imaging or electroencephalography (EEG), may also be used to support the diagnosis.
Early diagnosis is important for affected individuals and their families to receive appropriate medical care, support, and therapies to manage the symptoms and improve their quality of life. Therefore, if parents or caregivers suspect that a child may have Rett syndrome or any other developmental disorder, they should seek medical evaluation as soon as possible.
6 Does Rett syndrome affect IQ?
Rett syndrome can have an impact on intellectual functioning. Affected individuals may have a wide range of cognitive abilities. The majority of individuals with Rett syndrome have some level of intellectual disability, although the severity can vary widely among individuals.
According to the Rett Syndrome Handbook, published by the International Rett Syndrome Foundation, approximately 50% of individuals with Rett syndrome have a moderate intellectual disability. About 25% have a severe intellectual disability. The remaining 25% have borderline to average intellectual functioning.
It is important to note that intellectual disability is only one aspect of Rett syndrome. Affected individuals may also experience a wide range of other symptoms, such as motor impairments, communication difficulties, seizures, and behavior problems. Therefore, a comprehensive evaluation and management plan that addresses all aspects of the condition is necessary for optimal care.
7 Are people with Rett syndrome intelligent?
People with Rett syndrome can have a wide range of cognitive abilities. The majority of individuals with Rett syndrome have some level of intellectual disability. The severity of intellectual disability can vary widely among individuals. While some individuals with Rett syndrome may have average or above-average intelligence, the majority have some level of intellectual impairment.
However, it is important to note that intelligence is only one aspect of an individual's abilities. People with Rett syndrome can still lead fulfilling lives and make meaningful contributions to society.
It is also worth noting that individuals with Rett syndrome may have areas of relative strengths and weaknesses in their cognitive abilities. For example, some individuals with Rett syndrome may have better visual-spatial skills or memory than verbal skills, or vice versa. Therefore, it is important to assess and support each individual's unique abilities and needs.
8 What drug is FDA approved for Rett syndrome?
Trofinetide or Daybue is approved by the FDA specifically for the treatment of Rett syndrome. However, there are several medications that are commonly used off-label to manage specific symptoms of Rett syndrome. These include anticonvulsants to control seizures, antidepressants to manage mood disorders, and medications to address gastrointestinal problems.
In addition to medication, individuals with Rett syndrome may benefit from a range of therapies and interventions. These include physical therapy, speech therapy, occupational therapy, and behavioral interventions. These treatments are typically tailored to the individual's specific needs and may be adjusted over time as symptoms evolve.
9 What class of drug is Trofinetide?
Trofinetide belongs to a class of drugs called "neurotrophic factors." These are compounds that promote the growth, survival, and function of neurons (nerve cells) in the brain and nervous system. Trofinetide is believed to work by increasing the production of a protein called brain-derived neurotrophic factor (BDNF).
BDNF plays a key role in the development and function of the nervous system. By increasing BDNF levels, trofinetide can improve certain symptoms of Rett syndrome. These include communication deficits, social withdrawal, and repetitive behaviors.
10 What is the mechanism action of Trofinetide?
Trofinetide is a drug that is approved for the treatment of Rett syndrome. The exact mechanism of action of trofinetide is not fully understood, but it is believed to work by increasing the production of a protein called brain-derived neurotrophic factor (BDNF).
BDNF is a type of protein called neurotrophin, which is involved in the growth, development, and maintenance of neurons (nerve cells) in the brain and nervous system. BDNF plays a key role in the formation of synapses (connections) between neurons, as well as in the regulation of synaptic plasticity. Synaptic plasticity is the ability of synapses to change in response to experience.
Studies have suggested that individuals with Rett syndrome have lower levels of BDNF compared to typically developing individuals. By increasing BDNF levels, trofinetide may be able to improve certain symptoms of Rett syndrome. Symptoms include communication deficits, social withdrawal, and repetitive behaviors.
NOTE: The content on this website is intended for informational purposes only and is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding a medical condition.
Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The use of any information provided on this website is solely at your own risk. The website owners and authors do not accept any responsibility or liability for any injury, loss, or damage incurred by the use of or reliance on the information provided on this website. So, this is all about trofinetide and Rett syndrome.
0 Comments
Kindly share your views