Materiały źródłowe

• #1 New treatment for people with dwarfism | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/new-treatment-people-dwarfism

  EMA has recommended granting a marketing authorisation in the European Union (EU) for Voxzogo (vosoritide) for the treatment of achondroplasia, a condition that impairs bone growth and causes dwarfism. […] The condition must be confirmed by genetic testing before patients can start treatment with Voxzogo. […] Vosoritide, the active substance in Voxzogo, works by attaching to a receptor called natriuretic peptide receptor type B (NPR-B) on the surface of cells. The activation of this receptor will reduce the activity of FGFR3 and thereby stimulate the normal growth of bones and improve the symptoms of the disease. […] The opinion of EMAs human medicines committee (CHMP) is mainly based on one study which evaluated 121 patients with achondroplasia who were between 5 and 18 years of age. During the course of the study, a statistically significant improvement in growth was observed in patients treated with vosoritide compared to placebo, adding an average 1.57 cm in height after a year of treatment. The observed increase in growth occurred proportionally in both the spine and the lower limbs. Longer-term data in number of patients suggest that the improved growth is maintained. A separate ongoing study including subjects aged 2 to 5 also suggests consistent improvement in growth.

• #2 Dwarfism (Skeletal Dysplasia) & Other Causes of Short Stature

  https://my.clevelandclinic.org/health/diseases/17862-skeletal-dysplasia-dwarfism-and-other-causes-of-short-stature

  Since some types of dwarfism (skeletal dysplasia) are genetic, theres no way to prevent the condition unless a healthcare provider uses a screening test like pre-implantation genetic testing. […] To better understand your risk of having a child with a genetic condition like dwarfism, contact your healthcare provider about genetic testing. […] Nutrition plays a vital role in your childs growth. If youre pregnant, make sure you eat a well-balanced diet. When your child is born, they should also eat a variety of healthy, age-appropriate foods like protein, fruits, grains and vegetables which will give them all the nutrients they need to grow.

• #3 Dwarfism – Wikipedia

  https://en.wikipedia.org/wiki/Dwarfism

  Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life. […] Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation. Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy. Injections of thyroid hormone can mitigate the effects of the condition, but lack of proportion may be permanent.

• #4 Dwarfism and genetics | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/dwarfism-and-genetics

  Genetic counseling as well as family and public education regarding dwarfism and growth problems can bring greater awareness of dwarfism to communities and allow parents to make good choices. […] Inherited dwarfism is not preventable, but some cases caused by malnutrition, injury, absorption, or kidney conditions may be prevented. […] The use of preimplantation genetic diagnosis to select for dwarfism has become a topic of intense debate around medical ethics and reproductive liberty, as some prospective parents want their children to share their traits.

• #5 Dwarfism symptoms, causes, prevention, diagnosis, treatment, medicine

  https://www.myupchar.com/en/disease/dwarfism

  Dwarfism cannot be prevented as such because it is mostly genetic. […] People who are planning to conceive should get themselves tested for any syndromes they might have. Growth hormone-related dwarfism can be prevented with the help of various therapies. Genetic testing of the baby immediately after birth can also give some time to the doctor to try out therapies to increase their height.

• #6 Dwarfism – Wikipedia

  https://en.wikipedia.org/wiki/Dwarfism

  Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life. […] Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation. Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy. Injections of thyroid hormone can mitigate the effects of the condition, but lack of proportion may be permanent.

• #7 Dwarfism (Skeletal Dysplasia) & Other Causes of Short Stature

  https://my.clevelandclinic.org/health/diseases/17862-skeletal-dysplasia-dwarfism-and-other-causes-of-short-stature

  Since some types of dwarfism (skeletal dysplasia) are genetic, theres no way to prevent the condition unless a healthcare provider uses a screening test like pre-implantation genetic testing. […] To better understand your risk of having a child with a genetic condition like dwarfism, contact your healthcare provider about genetic testing. […] Nutrition plays a vital role in your childs growth. If youre pregnant, make sure you eat a well-balanced diet. When your child is born, they should also eat a variety of healthy, age-appropriate foods like protein, fruits, grains and vegetables which will give them all the nutrients they need to grow.

• #8 Achondroplasia – UF Health

  https://ufhealth.org/conditions-and-treatments/achondroplasia

  Achondroplasia may be inherited as an autosomal dominant trait. This means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant’s chance of being affected increases to 75%. […] Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

• #9 Achondroplasia: Symptoms, Treatment, Causes & Diagnosis

  https://my.clevelandclinic.org/health/diseases/22183-achondroplasia

  All children with achondroplasia should be carefully monitored regularly by a healthcare provider to treat or prevent any symptoms that may arise. […] Since achondroplasia is a rare genetic condition that’s often the result of a new gene mutation, there’s no way to prevent those random cases. If a parent has achondroplasia, the chance to pass it on could be significantly decreased through preimplantation genetic testing. If youre interested in learning more, please should speak with your OB/GYN provider. […] Staying regular with checkups during infancy and throughout childhood can prevent many symptoms of achondroplasia from occurring.

• #10 Primordial Dwarfism via the XRCC4 Gene Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Primordial-Dwarfism-via-the-XRCC4-Gene

  Candidates for this test are patients with symptoms consistent with autosomal recessive primordial dwarfism and the family members of patients who have known XRCC4 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in XRCC4. […] XRCC4-related primordial dwarfism is an autosomal recessive disorder, which is characterized by short stature, microcephaly, and endocrine dysfunction. […] This test provides full coverage of all coding exons of the XRCC4 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere.

• #11 Primordial Dwarfism via the LARP7 Gene Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Primordial-Dwarfism-via-the-LARP7-Gene

  Candidates for this test are patients with symptoms consistent with autosomal recessive primordial dwarfism, particularly patients with Alazami Syndrome and the family members of patients who have known LARP7 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LARP7. […] LARP7-related primordial dwarfism is an autosomal recessive disorder. […] The mutation detection rate by sequencing should be high, because the four known unique pathogenic variants are nonsense, small duplication, and small deletion. However, due to limited publications, clinical sensitivity is not yet known.

• #12 Achondroplasia – UF Health

  https://ufhealth.org/conditions-and-treatments/achondroplasia

  Achondroplasia may be inherited as an autosomal dominant trait. This means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant’s chance of being affected increases to 75%. […] Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

• #13 Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/4340235/

  Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia […] Dwarfism / prevention control* […] Hypophosphatemia, Familial / prevention control* […] Vitamin D / therapeutic use*

• #14 Pituitary Dwarfism: Treatment, Procedure, Cost, Recovery, Side Effects And More

  https://www.lybrate.com/topic/pituitary-dwarfism

  The treatment for pituitary dwarfism aims at treating the problem of growth hormone deficiency which is a condition in the pituitary gland when it does not make enough growth hormone. […] In order to reduce any other growth disorders in children with pituitary dwarfism, growth hormone therapy is recommended which is very effective in many cases when the treatment starts during the growth process. […] Other drugs can also be used to increase the production of growth hormones. […] This condition cannot be completely cured, however, early diagnosis and treatment can help in reducing the symptoms significantly. […] Pituitary dwarfism or dwarfism cannot be treated completely as it is a genetic disorder. However, you can regulate the symptoms by starting the treatment early on. […] Pituitary dwarfism cannot be completely treated as the child’s growth is affected and the height stops increasing. However, treatment at early age can help in regulating the symptoms.

• #15 Dwarfism

  https://saralmind.com/public/nursing/pcl-nursing/pcl-3-rd-year/child-health-nursing/childhood-morbidity-condition-and-their-nursing-management/dwarfism

  Dwarfism is a medical condition in which a person is short in stature as a result of a pituitary gland issue that causes the person’s growth to be significantly slowed or delayed. […] Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. […] Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life. […] Because many varieties of dwarfism are hereditary in nature, they are now incurable. Genetic testing can detect disorders that lead to dwarfism by looking for the precise variant that causes the condition. However, given the variety of causes of dwarfism, it might not be feasible to say for sure whether a kid would be born with the condition.

• #16 Pituitary Dwarfism: Treatment, Procedure, Cost, Recovery, Side Effects And More

  https://www.lybrate.com/topic/pituitary-dwarfism

  The treatment for pituitary dwarfism aims at treating the problem of growth hormone deficiency which is a condition in the pituitary gland when it does not make enough growth hormone. […] In order to reduce any other growth disorders in children with pituitary dwarfism, growth hormone therapy is recommended which is very effective in many cases when the treatment starts during the growth process. […] Other drugs can also be used to increase the production of growth hormones. […] This condition cannot be completely cured, however, early diagnosis and treatment can help in reducing the symptoms significantly. […] Pituitary dwarfism or dwarfism cannot be treated completely as it is a genetic disorder. However, you can regulate the symptoms by starting the treatment early on. […] Pituitary dwarfism cannot be completely treated as the child’s growth is affected and the height stops increasing. However, treatment at early age can help in regulating the symptoms.

• #17 Achondroplasia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/achondroplasia

  Currently, there is no way to prevent achondroplasia, since most cases result from unexpected new mutations. […] Doctors may treat some children with growth hormone, but this does not significantly affect the height of the child with achondroplasia. […] In some very specific cases, surgeries to lengthen legs may be considered.

• #18 Dwarfism | Norton Children’s Hospital

  https://nortonchildrens.com/services/orthopedics/conditions/bone-growth/dwarfism/

  Norton Children’s Orthopedics of Louisville offers care for children and teens with dwarfism, also called short stature, caused by achondroplasia and other conditions. […] There are no treatments to prevent or cure achondroplasia, since the condition can be caused by unexpected gene mutations. Growth hormone treatments do not affect height in a substantial way. Treating the condition consists of treating bone abnormalities and issues that children can develop because of dwarfism. Depending on a child’s age, medical history and expression of dwarfism, treatments may include:

• #19 Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/4340235/

  Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia […] Dwarfism / prevention control* […] Hypophosphatemia, Familial / prevention control* […] Vitamin D / therapeutic use*

• #20 Dwarfism – Wikipedia

  https://en.wikipedia.org/wiki/Dwarfism

  Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life. […] Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation. Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy. Injections of thyroid hormone can mitigate the effects of the condition, but lack of proportion may be permanent.

• #21 New treatment for people with dwarfism | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/new-treatment-people-dwarfism

  EMA has recommended granting a marketing authorisation in the European Union (EU) for Voxzogo (vosoritide) for the treatment of achondroplasia, a condition that impairs bone growth and causes dwarfism. […] The condition must be confirmed by genetic testing before patients can start treatment with Voxzogo. […] Vosoritide, the active substance in Voxzogo, works by attaching to a receptor called natriuretic peptide receptor type B (NPR-B) on the surface of cells. The activation of this receptor will reduce the activity of FGFR3 and thereby stimulate the normal growth of bones and improve the symptoms of the disease. […] The opinion of EMAs human medicines committee (CHMP) is mainly based on one study which evaluated 121 patients with achondroplasia who were between 5 and 18 years of age. During the course of the study, a statistically significant improvement in growth was observed in patients treated with vosoritide compared to placebo, adding an average 1.57 cm in height after a year of treatment. The observed increase in growth occurred proportionally in both the spine and the lower limbs. Longer-term data in number of patients suggest that the improved growth is maintained. A separate ongoing study including subjects aged 2 to 5 also suggests consistent improvement in growth.

• #22 FDA Approves First Drug to Improve Growth in Children with Most Common Form of Dwarfism | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-improve-growth-children-most-common-form-dwarfism

  Today, the U.S. Food and Drug Administration approved Voxzogo (vosoritide) injection to improve growth in children five years of age and older with achondroplasia and open epiphyses (growth plates), meaning these children still have the potential to grow. Achondroplasia is the most common form of dwarfism. […] With this action, children with short stature due to achondroplasia have a treatment option that targets the underlying cause of their short stature. […] Voxzogo works by binding to a specific receptor called natriuretic peptide receptor-B that reduces the growth regulation genes activity and stimulates bone growth. […] The FDA approved Voxzogo under the accelerated approval pathway, which allows for earlier approval of drugs that treat serious conditions and fill an unmet medical need, based on a surrogate or intermediate clinical endpoint.

• #23 New treatment for people with dwarfism | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/new-treatment-people-dwarfism

  EMA has recommended granting a marketing authorisation in the European Union (EU) for Voxzogo (vosoritide) for the treatment of achondroplasia, a condition that impairs bone growth and causes dwarfism. […] The condition must be confirmed by genetic testing before patients can start treatment with Voxzogo. […] Vosoritide, the active substance in Voxzogo, works by attaching to a receptor called natriuretic peptide receptor type B (NPR-B) on the surface of cells. The activation of this receptor will reduce the activity of FGFR3 and thereby stimulate the normal growth of bones and improve the symptoms of the disease. […] The opinion of EMAs human medicines committee (CHMP) is mainly based on one study which evaluated 121 patients with achondroplasia who were between 5 and 18 years of age. During the course of the study, a statistically significant improvement in growth was observed in patients treated with vosoritide compared to placebo, adding an average 1.57 cm in height after a year of treatment. The observed increase in growth occurred proportionally in both the spine and the lower limbs. Longer-term data in number of patients suggest that the improved growth is maintained. A separate ongoing study including subjects aged 2 to 5 also suggests consistent improvement in growth.

• #24 FDA Approves First Drug to Improve Growth in Children with Most Common Form of Dwarfism | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-improve-growth-children-most-common-form-dwarfism

  Today, the U.S. Food and Drug Administration approved Voxzogo (vosoritide) injection to improve growth in children five years of age and older with achondroplasia and open epiphyses (growth plates), meaning these children still have the potential to grow. Achondroplasia is the most common form of dwarfism. […] With this action, children with short stature due to achondroplasia have a treatment option that targets the underlying cause of their short stature. […] Voxzogo works by binding to a specific receptor called natriuretic peptide receptor-B that reduces the growth regulation genes activity and stimulates bone growth. […] The FDA approved Voxzogo under the accelerated approval pathway, which allows for earlier approval of drugs that treat serious conditions and fill an unmet medical need, based on a surrogate or intermediate clinical endpoint.

• #25 New treatment for people with dwarfism | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/new-treatment-people-dwarfism

  EMA has recommended granting a marketing authorisation in the European Union (EU) for Voxzogo (vosoritide) for the treatment of achondroplasia, a condition that impairs bone growth and causes dwarfism. […] The condition must be confirmed by genetic testing before patients can start treatment with Voxzogo. […] Vosoritide, the active substance in Voxzogo, works by attaching to a receptor called natriuretic peptide receptor type B (NPR-B) on the surface of cells. The activation of this receptor will reduce the activity of FGFR3 and thereby stimulate the normal growth of bones and improve the symptoms of the disease. […] The opinion of EMAs human medicines committee (CHMP) is mainly based on one study which evaluated 121 patients with achondroplasia who were between 5 and 18 years of age. During the course of the study, a statistically significant improvement in growth was observed in patients treated with vosoritide compared to placebo, adding an average 1.57 cm in height after a year of treatment. The observed increase in growth occurred proportionally in both the spine and the lower limbs. Longer-term data in number of patients suggest that the improved growth is maintained. A separate ongoing study including subjects aged 2 to 5 also suggests consistent improvement in growth.

• #26 FDA approves first drug for genetic cause of dwarfism | STAT

  https://www.statnews.com/2021/11/19/fda-approves-first-drug-for-genetic-cause-of-dwarfism/

  The Food and Drug Administration approved the first treatment for the most common cause of dwarfism Friday, a drug that has proved to increase childrens height but has been polarizing among adults with short stature. […] BioMarin does not yet have data on whether Voxzogo can prevent the hearing loss, sleep apnea, and life-threatening skeletal problems that can result from achondroplasia, complications that take years to develop. […] Voxzogo is approved for children with achondroplasia between the ages of 5 and 18. BioMarin is conducting a study enrolling infants and younger children, with data expected next year. If the results are positive, the company expects to apply for a wider FDA label. […] BioMarins drug is designed to counteract the genetic mutation that causes achondroplasia.

• #27 New treatment for people with dwarfism | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/new-treatment-people-dwarfism

  EMA has recommended granting a marketing authorisation in the European Union (EU) for Voxzogo (vosoritide) for the treatment of achondroplasia, a condition that impairs bone growth and causes dwarfism. […] The condition must be confirmed by genetic testing before patients can start treatment with Voxzogo. […] Vosoritide, the active substance in Voxzogo, works by attaching to a receptor called natriuretic peptide receptor type B (NPR-B) on the surface of cells. The activation of this receptor will reduce the activity of FGFR3 and thereby stimulate the normal growth of bones and improve the symptoms of the disease. […] The opinion of EMAs human medicines committee (CHMP) is mainly based on one study which evaluated 121 patients with achondroplasia who were between 5 and 18 years of age. During the course of the study, a statistically significant improvement in growth was observed in patients treated with vosoritide compared to placebo, adding an average 1.57 cm in height after a year of treatment. The observed increase in growth occurred proportionally in both the spine and the lower limbs. Longer-term data in number of patients suggest that the improved growth is maintained. A separate ongoing study including subjects aged 2 to 5 also suggests consistent improvement in growth.

• #28 FDA approval grows use of growth therapy for children with achondroplasia  – CHOC Pediatrica

  https://care.choc.org/fda-approval-grows-use-of-growth-therapy-for-children-with-achondroplasia/

  The most common type of dwarfism, achondroplasia can now be treated with Voxzogo starting at birth, maximizing children’s growth potential. […] Many suspect this increased candidacy will further improve care of children with achondroplasia, the most common form of dwarfism. […] To begin treatment as early as possible, it is incumbent upon clinicians to identify and refer patients with features of or similar to those of achondroplasia to experts in the following disciplines: Genetics. A timely genetic-centric diagnosis allows therapy to begin as early as possible. […] Not treating achondroplasia can severely affect the height of a child throughout life. […] Starting earlier, then, signifies a large step toward helping children with achondroplasia reach their growth potential. […] The goal of Voxzogo use is improved linear growth or height in patients that permits them to engage in normal, independent daily living.

• #29 FDA approval grows use of growth therapy for children with achondroplasia  – CHOC Pediatrica

  https://care.choc.org/fda-approval-grows-use-of-growth-therapy-for-children-with-achondroplasia/

  The most common type of dwarfism, achondroplasia can now be treated with Voxzogo starting at birth, maximizing children’s growth potential. […] Many suspect this increased candidacy will further improve care of children with achondroplasia, the most common form of dwarfism. […] To begin treatment as early as possible, it is incumbent upon clinicians to identify and refer patients with features of or similar to those of achondroplasia to experts in the following disciplines: Genetics. A timely genetic-centric diagnosis allows therapy to begin as early as possible. […] Not treating achondroplasia can severely affect the height of a child throughout life. […] Starting earlier, then, signifies a large step toward helping children with achondroplasia reach their growth potential. […] The goal of Voxzogo use is improved linear growth or height in patients that permits them to engage in normal, independent daily living.

• #30 New life changing treatment for dwarfism added to PBS | Health Portfolio Ministers | Australian Government Department of Health and Aged Care

  https://www.health.gov.au/ministers/the-hon-mark-butler-mp/media/new-life-changing-treatment-for-dwarfism-added-to-pbs

  Children born with the most common form of dwarfism will have access to a new life changing treatment on the Pharmaceutical Benefits Scheme (PBS). […] The Australian Government will list Voxzogo® (vosoritide) on the PBS for treatment of patients with achondroplasia whose growth plates are not yet closed. […] This is the first and only approved medicine on the PBS that targets the underlying cause of achondroplasia. […] Listing Voxzogo on the PBS could be life changing for children born with dwarfism and their families. […] It is the first time an effective treatment will be affordable for every family with an eligible child affected by this genetic condition.

• #31 FDA approval grows use of growth therapy for children with achondroplasia  – CHOC Pediatrica

  https://care.choc.org/fda-approval-grows-use-of-growth-therapy-for-children-with-achondroplasia/

  Thus far, clinicians have reported each of these improvements at various times. Preliminary data indicates that earlier treatment improves proportionate growth of the extremities while reducing spinal thoracolumbar kyphosis and genu varum. […] More treatment data with a larger number of patients enrolled is necessary to confirm this preliminary data, but the potential benefits look promising.

• #32 FDA approves first drug for genetic cause of dwarfism | STAT

  https://www.statnews.com/2021/11/19/fda-approves-first-drug-for-genetic-cause-of-dwarfism/

  The Food and Drug Administration approved the first treatment for the most common cause of dwarfism Friday, a drug that has proved to increase childrens height but has been polarizing among adults with short stature. […] BioMarin does not yet have data on whether Voxzogo can prevent the hearing loss, sleep apnea, and life-threatening skeletal problems that can result from achondroplasia, complications that take years to develop. […] Voxzogo is approved for children with achondroplasia between the ages of 5 and 18. BioMarin is conducting a study enrolling infants and younger children, with data expected next year. If the results are positive, the company expects to apply for a wider FDA label. […] BioMarins drug is designed to counteract the genetic mutation that causes achondroplasia.

• #33 ‘There is a fear that this will eradicate dwarfism’: the controversy over a new growth drug | Medical research | The Guardian

  https://www.theguardian.com/science/2020/sep/28/there-is-a-fear-that-this-will-eradicate-dwarfism-the-controversy-over-a-new-growth-drug

  Samuel is now nine and has grown about 50% faster than would be expected of a child of his age with achondroplasia. […] The treatment is in its early days, but she believes that it is potentially life-changing. […] The main purpose of the drug is to improve the quality of life for children with achondroplasia, says Irving. […] Irving hopes it will reduce the need for operations into adulthood, and will reduce complications such as paralysis, pain on a daily basis, sleep apnoea and serious neurological complications. […] She hopes that this treatment will mean reducing the impact of achondroplasia well into adulthood. […] The feeling within some parts of the community is something Irving is aware of. […] But the other side to achondroplasia is that it is a serious medical condition that has complications that can be so severe that it can cause early death, either in very early childhood or premature death in adulthood.

• #34 Achondroplasia: Symptoms, Treatment, Causes & Diagnosis

  https://my.clevelandclinic.org/health/diseases/22183-achondroplasia

  All children with achondroplasia should be carefully monitored regularly by a healthcare provider to treat or prevent any symptoms that may arise. […] Since achondroplasia is a rare genetic condition that’s often the result of a new gene mutation, there’s no way to prevent those random cases. If a parent has achondroplasia, the chance to pass it on could be significantly decreased through preimplantation genetic testing. If youre interested in learning more, please should speak with your OB/GYN provider. […] Staying regular with checkups during infancy and throughout childhood can prevent many symptoms of achondroplasia from occurring.

• #35 Achondroplasia – OrthoInfo -AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/achondroplasia/

  Achondroplasia is a bone disorder that results in dwarfism. Children who are born with achondroplasia typically have short arms and legs, a large head, and an average-sized trunk. They are shorter than most other people because of their bone abnormalities. […] Health complications are common in babies and children with achondroplasia, but with regular checkups and medical care, most of these can be detected early on and managed. Almost all children with the disorder can lead full and active lives. […] Currently, there is no cure for achondroplasia. Instead, your child’s doctor will focus on treating any problems or complications that may arise from the condition. […] Parents can help lessen the risk of weight gain by modeling healthy eating and exercise habits from an early age. […] You can help your child live the best life possible right from the start by taking them to all well-baby checkups and annual appointments. These visits give your child’s doctor the opportunity to identify and treat any potential complications of achondroplasia early on so that your child can thrive.

• #36 Achondroplasia: Symptoms, Treatment, Causes & Diagnosis

  https://my.clevelandclinic.org/health/diseases/22183-achondroplasia

  All children with achondroplasia should be carefully monitored regularly by a healthcare provider to treat or prevent any symptoms that may arise. […] Since achondroplasia is a rare genetic condition that’s often the result of a new gene mutation, there’s no way to prevent those random cases. If a parent has achondroplasia, the chance to pass it on could be significantly decreased through preimplantation genetic testing. If youre interested in learning more, please should speak with your OB/GYN provider. […] Staying regular with checkups during infancy and throughout childhood can prevent many symptoms of achondroplasia from occurring.

• #37 Achondroplasia Treatment West Palm Beach, FL | Dwarfism Treatment New Yrok, NY

  https://www.davidsfeldmanmd.com/achondroplasia-orthopedic-surgeon-west-palm-beach.html

  My approach to achondroplasia takes into account what is the most common problem that patients often suffer from, and the reason for disability later in life. Therefore the discussion of prevention and treatment of spinal problems (stenosis) […] I treat individuals with Achondroplasia from around the world and of all ages and spinal stenosis, with its inherent pain, weakness and eventual bladder and bowel dysfunction, is the most common complaint and reason for disability. […] IT IS PREVENTABLE AND TREATABLE. […] Yearly examinations and discussions of symptoms are required. If symptoms are occurring, even mild, an MRI will demonstrate the extent and location of the spinal compression. Surgery to decompress the stenosis to unroof the compression is often curative. […] A spinal fusion is necessary if the decompression requires removal of the joints or if there is kyphosis (hunch back), as often encountered in Achondroplasia. […] In order to enhance the fusion, I now do a minimally invasive side surgery at the same time at the lowest level to assure fusion, which is a problem when so much bone is removed to decompress.

• #38 Achondroplasia Treatment West Palm Beach, FL | Dwarfism Treatment New Yrok, NY

  https://www.davidsfeldmanmd.com/achondroplasia-orthopedic-surgeon-west-palm-beach.html

  My approach to achondroplasia takes into account what is the most common problem that patients often suffer from, and the reason for disability later in life. Therefore the discussion of prevention and treatment of spinal problems (stenosis) […] I treat individuals with Achondroplasia from around the world and of all ages and spinal stenosis, with its inherent pain, weakness and eventual bladder and bowel dysfunction, is the most common complaint and reason for disability. […] IT IS PREVENTABLE AND TREATABLE. […] Yearly examinations and discussions of symptoms are required. If symptoms are occurring, even mild, an MRI will demonstrate the extent and location of the spinal compression. Surgery to decompress the stenosis to unroof the compression is often curative. […] A spinal fusion is necessary if the decompression requires removal of the joints or if there is kyphosis (hunch back), as often encountered in Achondroplasia. […] In order to enhance the fusion, I now do a minimally invasive side surgery at the same time at the lowest level to assure fusion, which is a problem when so much bone is removed to decompress.

• #39 Achondroplasia Treatment West Palm Beach, FL | Dwarfism Treatment New Yrok, NY

  https://www.davidsfeldmanmd.com/achondroplasia-orthopedic-surgeon-west-palm-beach.html

  My approach to achondroplasia takes into account what is the most common problem that patients often suffer from, and the reason for disability later in life. Therefore the discussion of prevention and treatment of spinal problems (stenosis) […] I treat individuals with Achondroplasia from around the world and of all ages and spinal stenosis, with its inherent pain, weakness and eventual bladder and bowel dysfunction, is the most common complaint and reason for disability. […] IT IS PREVENTABLE AND TREATABLE. […] Yearly examinations and discussions of symptoms are required. If symptoms are occurring, even mild, an MRI will demonstrate the extent and location of the spinal compression. Surgery to decompress the stenosis to unroof the compression is often curative. […] A spinal fusion is necessary if the decompression requires removal of the joints or if there is kyphosis (hunch back), as often encountered in Achondroplasia. […] In order to enhance the fusion, I now do a minimally invasive side surgery at the same time at the lowest level to assure fusion, which is a problem when so much bone is removed to decompress.

• #40 Dwarfism (Skeletal Dysplasia) & Other Causes of Short Stature

  https://my.clevelandclinic.org/health/diseases/17862-skeletal-dysplasia-dwarfism-and-other-causes-of-short-stature

  Since some types of dwarfism (skeletal dysplasia) are genetic, theres no way to prevent the condition unless a healthcare provider uses a screening test like pre-implantation genetic testing. […] To better understand your risk of having a child with a genetic condition like dwarfism, contact your healthcare provider about genetic testing. […] Nutrition plays a vital role in your childs growth. If youre pregnant, make sure you eat a well-balanced diet. When your child is born, they should also eat a variety of healthy, age-appropriate foods like protein, fruits, grains and vegetables which will give them all the nutrients they need to grow.

• #41 Achondroplasia – OrthoInfo -AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/achondroplasia/

  Achondroplasia is a bone disorder that results in dwarfism. Children who are born with achondroplasia typically have short arms and legs, a large head, and an average-sized trunk. They are shorter than most other people because of their bone abnormalities. […] Health complications are common in babies and children with achondroplasia, but with regular checkups and medical care, most of these can be detected early on and managed. Almost all children with the disorder can lead full and active lives. […] Currently, there is no cure for achondroplasia. Instead, your child’s doctor will focus on treating any problems or complications that may arise from the condition. […] Parents can help lessen the risk of weight gain by modeling healthy eating and exercise habits from an early age. […] You can help your child live the best life possible right from the start by taking them to all well-baby checkups and annual appointments. These visits give your child’s doctor the opportunity to identify and treat any potential complications of achondroplasia early on so that your child can thrive.

• #42 Achondroplasia – OrthoInfo -AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/achondroplasia/

  Achondroplasia is a bone disorder that results in dwarfism. Children who are born with achondroplasia typically have short arms and legs, a large head, and an average-sized trunk. They are shorter than most other people because of their bone abnormalities. […] Health complications are common in babies and children with achondroplasia, but with regular checkups and medical care, most of these can be detected early on and managed. Almost all children with the disorder can lead full and active lives. […] Currently, there is no cure for achondroplasia. Instead, your child’s doctor will focus on treating any problems or complications that may arise from the condition. […] Parents can help lessen the risk of weight gain by modeling healthy eating and exercise habits from an early age. […] You can help your child live the best life possible right from the start by taking them to all well-baby checkups and annual appointments. These visits give your child’s doctor the opportunity to identify and treat any potential complications of achondroplasia early on so that your child can thrive.

• #43 Achondroplasia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/achondroplasia

  Currently, there is no way to prevent achondroplasia, since most cases result from unexpected new mutations. […] Doctors may treat some children with growth hormone, but this does not significantly affect the height of the child with achondroplasia. […] In some very specific cases, surgeries to lengthen legs may be considered.

• #44 Dwarfism | International Center for Limb Lengthening

  https://www.limblength.org/conditions/dwarfism/

  Not every patient with dwarfism requires treatment; it is a very personal decision made after weighing the risks and benefits. […] Our most common goals of treatment are: to obtain a functional height, normally between 4 feet and 10 inches (147 cm) and 5 feet and 2 inches (157 cm); to correct deformities like bowlegs to improve walking; to lengthen the arms to a functional length for self-care and driving; and to gain secondary psychological benefits from a more positive body image and body function. […] For patients who elect to lengthen, after undergoing several phases of lengthening at the International Center for Limb Lengthening, most girls achieve a height of 5 feet (152 cm) and most boys achieve a height of 5 feet 2-4 inches (157-163 cm). However, our goal is not only to increase height and arm length, but also to correct deformities of the ankle, knee, hip, spine and elbow.

• #45 Dwarfism | International Center for Limb Lengthening

  https://www.limblength.org/conditions/dwarfism/

  Not every patient with dwarfism requires treatment; it is a very personal decision made after weighing the risks and benefits. […] Our most common goals of treatment are: to obtain a functional height, normally between 4 feet and 10 inches (147 cm) and 5 feet and 2 inches (157 cm); to correct deformities like bowlegs to improve walking; to lengthen the arms to a functional length for self-care and driving; and to gain secondary psychological benefits from a more positive body image and body function. […] For patients who elect to lengthen, after undergoing several phases of lengthening at the International Center for Limb Lengthening, most girls achieve a height of 5 feet (152 cm) and most boys achieve a height of 5 feet 2-4 inches (157-163 cm). However, our goal is not only to increase height and arm length, but also to correct deformities of the ankle, knee, hip, spine and elbow.

• #46 Dwarfism | International Center for Limb Lengthening

  https://www.limblength.org/conditions/dwarfism/

  The International Center for Limb Lengthenings pediatric orthopedics physicians have partnered with the Pediatric Endocrinology Division at the Herman Walter Samuelson Childrens Hospital at Sinai to offer BioMarins VOXZOGO, also known as vosoritide, an injectable prescription medication that has been FDA-approved to increase linear growth for children with achondroplasia who are five years of age and older and still have open growth plates. […] Limb deformity correction can occur at any age. Limb lengthening, with or without deformity correction, is not recommended for children at ages 4 or 5, because a certain maturity level is necessary for a child to have a successful lengthening treatment, and the treatment itself may interfere with natural bone growth at this stage. […] We recommend that patients ideally have their first lengthening (with or without deformity correction) surgery between ages 8 and 10, and they will ultimately undergo three stages of treatment over the course of their childhood and adolescence.

• #47 Dwarfism | International Center for Limb Lengthening

  https://www.limblength.org/conditions/dwarfism/

  The International Center for Limb Lengthenings pediatric orthopedics physicians have partnered with the Pediatric Endocrinology Division at the Herman Walter Samuelson Childrens Hospital at Sinai to offer BioMarins VOXZOGO, also known as vosoritide, an injectable prescription medication that has been FDA-approved to increase linear growth for children with achondroplasia who are five years of age and older and still have open growth plates. […] Limb deformity correction can occur at any age. Limb lengthening, with or without deformity correction, is not recommended for children at ages 4 or 5, because a certain maturity level is necessary for a child to have a successful lengthening treatment, and the treatment itself may interfere with natural bone growth at this stage. […] We recommend that patients ideally have their first lengthening (with or without deformity correction) surgery between ages 8 and 10, and they will ultimately undergo three stages of treatment over the course of their childhood and adolescence.

• #48 Dwarfism | International Center for Limb Lengthening

  https://www.limblength.org/conditions/dwarfism/

  Not every patient with dwarfism requires treatment; it is a very personal decision made after weighing the risks and benefits. […] Our most common goals of treatment are: to obtain a functional height, normally between 4 feet and 10 inches (147 cm) and 5 feet and 2 inches (157 cm); to correct deformities like bowlegs to improve walking; to lengthen the arms to a functional length for self-care and driving; and to gain secondary psychological benefits from a more positive body image and body function. […] For patients who elect to lengthen, after undergoing several phases of lengthening at the International Center for Limb Lengthening, most girls achieve a height of 5 feet (152 cm) and most boys achieve a height of 5 feet 2-4 inches (157-163 cm). However, our goal is not only to increase height and arm length, but also to correct deformities of the ankle, knee, hip, spine and elbow.

• #49 Gene therapy: A potential cure for growth-hormone resistant dwarfism

  https://www.drugtargetreview.com/news/103053/gene-therapy-a-potential-cure-for-growth-hormone-resistant-dwarfism/

  Researchers have shown that gene therapy using a single-dose injection of a virus carrying the good gene could possibly be used to cure growth-hormone resistant dwarfism. […] Gene therapy has given us a promising start in managing dwarfism. This is far more favourable compared to rhIGF1 injections, once or twice daily for many years, which causes side effects of pain and discomfort to patients and comes as a huge financial burden to those involved, concluded Professor Lee K O, research lead.

• #50 Gene therapy: A potential cure for growth-hormone resistant dwarfism

  https://www.drugtargetreview.com/news/103053/gene-therapy-a-potential-cure-for-growth-hormone-resistant-dwarfism/

  Researchers have shown that gene therapy using a single-dose injection of a virus carrying the good gene could possibly be used to cure growth-hormone resistant dwarfism. […] Gene therapy has given us a promising start in managing dwarfism. This is far more favourable compared to rhIGF1 injections, once or twice daily for many years, which causes side effects of pain and discomfort to patients and comes as a huge financial burden to those involved, concluded Professor Lee K O, research lead.

• #51 Gene therapy: A potential cure for growth-hormone resistant dwarfism

  https://www.drugtargetreview.com/news/103053/gene-therapy-a-potential-cure-for-growth-hormone-resistant-dwarfism/

  Researchers have shown that gene therapy using a single-dose injection of a virus carrying the good gene could possibly be used to cure growth-hormone resistant dwarfism. […] Gene therapy has given us a promising start in managing dwarfism. This is far more favourable compared to rhIGF1 injections, once or twice daily for many years, which causes side effects of pain and discomfort to patients and comes as a huge financial burden to those involved, concluded Professor Lee K O, research lead.

• #52

  https://insight.jci.org/articles/view/147832

  Prevention of GC-B dephosphorylation rescues reduced axial and appendicular skeleton growth in a mouse model of achondroplasia. […] We conclude that preventing GC-B dephosphorylation rescues reduced axial and appendicular skeleton growth in a mouse model of achondroplasia. […] Importantly, if preventing GC-B dephosphorylation rescues ACH as we suggest, then therapies that preserve or increase the phosphorylation state of GC-B, should increase long bone growth in ACH models.

• #53

  https://insight.jci.org/articles/view/147832

  Prevention of GC-B dephosphorylation rescues reduced axial and appendicular skeleton growth in a mouse model of achondroplasia. […] We conclude that preventing GC-B dephosphorylation rescues reduced axial and appendicular skeleton growth in a mouse model of achondroplasia. […] Importantly, if preventing GC-B dephosphorylation rescues ACH as we suggest, then therapies that preserve or increase the phosphorylation state of GC-B, should increase long bone growth in ACH models.

• #54 Internet Scientific Publications

  https://ispub.com/IJIM/14/1/55916

  Many novel strategies are currently being investigated for the management of achondroplasia which target the faulty FGFR3 receptor, its ligands or the various downstream intracellular signaling molecules. […] More advanced strategies include use of C-Type Natriuretic Peptide (CNP) analogue Vosoritide (developed by BioMarin) which acts on its receptor, natriuretic peptide receptor B (NPR-B), and antagonizes mutant FGFR3 downstream signaling by inhibiting MAPK pathway. […] If approved, this would make vosoritide the first approved pharmacological therapy for the treatment of achondroplastic dwarfism. […] Vosoritide has drawn many comparisons to the ethical and social controversies that came with the introduction of cochlear implants within the deaf community. […] The issue of treatment therapies for Achondroplasia has raised serious concerns among some in the dwarf community.

• #55 1st drug to treat genetic cause of dwarfism approved by FDA | Live Science

  https://www.livescience.com/first-fda-approved-genetic-dwarfism-treatment

  The drug is designed to treat achondroplasia, a genetic condition that causes dwarfism. […] The Food and Drug Administration (FDA) has approved the first drug to treat the most common form of dwarfism, known as achondroplasia. […] Clinical trials suggest that the drug, called Voxzogo, is safe and effective at restoring bone growth in children with achondroplasia and thus boosting their heights; but it’s unclear whether the drug also counteracts the various health issues that can arise from the condition. […] According to BioMarin Pharmaceutical, this data suggests that, if treated throughout their childhoods, kids with achondroplasia could reach similar heights as children without the condition. […] Some have expressed concern that the clinical trials exclusively focused on participants’ heights, rather than their long-term health; in this way, the drug seems aimed at „correcting” short stature, which they argue isn’t a problem that requires fixing. Other little people have expressed hope that the treatment will help improve people’s quality of life by warding off the potential health complications of achondroplasia.

• #56 ‘There is a fear that this will eradicate dwarfism’: the controversy over a new growth drug | Medical research | The Guardian

  https://www.theguardian.com/science/2020/sep/28/there-is-a-fear-that-this-will-eradicate-dwarfism-the-controversy-over-a-new-growth-drug

  Samuel is now nine and has grown about 50% faster than would be expected of a child of his age with achondroplasia. […] The treatment is in its early days, but she believes that it is potentially life-changing. […] The main purpose of the drug is to improve the quality of life for children with achondroplasia, says Irving. […] Irving hopes it will reduce the need for operations into adulthood, and will reduce complications such as paralysis, pain on a daily basis, sleep apnoea and serious neurological complications. […] She hopes that this treatment will mean reducing the impact of achondroplasia well into adulthood. […] The feeling within some parts of the community is something Irving is aware of. […] But the other side to achondroplasia is that it is a serious medical condition that has complications that can be so severe that it can cause early death, either in very early childhood or premature death in adulthood.

• #57 1st drug to treat genetic cause of dwarfism approved by FDA | Live Science

  https://www.livescience.com/first-fda-approved-genetic-dwarfism-treatment

  The drug is designed to treat achondroplasia, a genetic condition that causes dwarfism. […] The Food and Drug Administration (FDA) has approved the first drug to treat the most common form of dwarfism, known as achondroplasia. […] Clinical trials suggest that the drug, called Voxzogo, is safe and effective at restoring bone growth in children with achondroplasia and thus boosting their heights; but it’s unclear whether the drug also counteracts the various health issues that can arise from the condition. […] According to BioMarin Pharmaceutical, this data suggests that, if treated throughout their childhoods, kids with achondroplasia could reach similar heights as children without the condition. […] Some have expressed concern that the clinical trials exclusively focused on participants’ heights, rather than their long-term health; in this way, the drug seems aimed at „correcting” short stature, which they argue isn’t a problem that requires fixing. Other little people have expressed hope that the treatment will help improve people’s quality of life by warding off the potential health complications of achondroplasia.

• #58 ‘There is a fear that this will eradicate dwarfism’: the controversy over a new growth drug | Medical research | The Guardian

  https://www.theguardian.com/science/2020/sep/28/there-is-a-fear-that-this-will-eradicate-dwarfism-the-controversy-over-a-new-growth-drug

  Samuel is now nine and has grown about 50% faster than would be expected of a child of his age with achondroplasia. […] The treatment is in its early days, but she believes that it is potentially life-changing. […] The main purpose of the drug is to improve the quality of life for children with achondroplasia, says Irving. […] Irving hopes it will reduce the need for operations into adulthood, and will reduce complications such as paralysis, pain on a daily basis, sleep apnoea and serious neurological complications. […] She hopes that this treatment will mean reducing the impact of achondroplasia well into adulthood. […] The feeling within some parts of the community is something Irving is aware of. […] But the other side to achondroplasia is that it is a serious medical condition that has complications that can be so severe that it can cause early death, either in very early childhood or premature death in adulthood.

• #59 ‘There is a fear that this will eradicate dwarfism’: the controversy over a new growth drug | Medical research | The Guardian

  https://www.theguardian.com/science/2020/sep/28/there-is-a-fear-that-this-will-eradicate-dwarfism-the-controversy-over-a-new-growth-drug

  She sees it as an issue of healthcare (she, too, stresses this treatment is not a cure). Its about alleviating some symptoms, and improving the quality of life. […] The decision to take part in the trial was purely based on improving Samuels quality of life, and she says this also includes his height.

• #60 Internet Scientific Publications

  https://ispub.com/IJIM/14/1/55916

  The main medical issue seems to be, if approved, does vosoritide offer a viable option to the two approved therapies: Human Growth Hormone therapy and limb-lengthening surgeries. […] The advantages of using vosoritide is that it can theoretically result in significant recovery of bone growth as shown in the medical section above. […] If we are going to examine this issue ethically, then there must be an open debate with all parties participating, and all options must be placed on the table, including the option that vosoritide, if approved, should be a viable option offered to children with Achondroplasia. […] If patients are made aware and comprehend the success data, short-term and long-term risks and benefits, alternatives and possible consequences and if safeguards are put in place to avoid the potential for coercion, then informed consent and informed assent can be obtained ethically for the use of vosoritide.

• #61 Internet Scientific Publications

  https://ispub.com/IJIM/14/1/55916

  The main medical issue seems to be, if approved, does vosoritide offer a viable option to the two approved therapies: Human Growth Hormone therapy and limb-lengthening surgeries. […] The advantages of using vosoritide is that it can theoretically result in significant recovery of bone growth as shown in the medical section above. […] If we are going to examine this issue ethically, then there must be an open debate with all parties participating, and all options must be placed on the table, including the option that vosoritide, if approved, should be a viable option offered to children with Achondroplasia. […] If patients are made aware and comprehend the success data, short-term and long-term risks and benefits, alternatives and possible consequences and if safeguards are put in place to avoid the potential for coercion, then informed consent and informed assent can be obtained ethically for the use of vosoritide.

• #62 Internet Scientific Publications

  https://ispub.com/IJIM/14/1/55916

  The main medical issue seems to be, if approved, does vosoritide offer a viable option to the two approved therapies: Human Growth Hormone therapy and limb-lengthening surgeries. […] The advantages of using vosoritide is that it can theoretically result in significant recovery of bone growth as shown in the medical section above. […] If we are going to examine this issue ethically, then there must be an open debate with all parties participating, and all options must be placed on the table, including the option that vosoritide, if approved, should be a viable option offered to children with Achondroplasia. […] If patients are made aware and comprehend the success data, short-term and long-term risks and benefits, alternatives and possible consequences and if safeguards are put in place to avoid the potential for coercion, then informed consent and informed assent can be obtained ethically for the use of vosoritide.

• #63 Dwarfism – Wikipedia

  https://en.wikipedia.org/wiki/Dwarfism

  Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life. […] Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation. Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy. Injections of thyroid hormone can mitigate the effects of the condition, but lack of proportion may be permanent.

• #64 New treatment for people with dwarfism | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/new-treatment-people-dwarfism

  EMA has recommended granting a marketing authorisation in the European Union (EU) for Voxzogo (vosoritide) for the treatment of achondroplasia, a condition that impairs bone growth and causes dwarfism. […] The condition must be confirmed by genetic testing before patients can start treatment with Voxzogo. […] Vosoritide, the active substance in Voxzogo, works by attaching to a receptor called natriuretic peptide receptor type B (NPR-B) on the surface of cells. The activation of this receptor will reduce the activity of FGFR3 and thereby stimulate the normal growth of bones and improve the symptoms of the disease. […] The opinion of EMAs human medicines committee (CHMP) is mainly based on one study which evaluated 121 patients with achondroplasia who were between 5 and 18 years of age. During the course of the study, a statistically significant improvement in growth was observed in patients treated with vosoritide compared to placebo, adding an average 1.57 cm in height after a year of treatment. The observed increase in growth occurred proportionally in both the spine and the lower limbs. Longer-term data in number of patients suggest that the improved growth is maintained. A separate ongoing study including subjects aged 2 to 5 also suggests consistent improvement in growth.

• #65 FDA approval grows use of growth therapy for children with achondroplasia  – CHOC Pediatrica

  https://care.choc.org/fda-approval-grows-use-of-growth-therapy-for-children-with-achondroplasia/

  The most common type of dwarfism, achondroplasia can now be treated with Voxzogo starting at birth, maximizing children’s growth potential. […] Many suspect this increased candidacy will further improve care of children with achondroplasia, the most common form of dwarfism. […] To begin treatment as early as possible, it is incumbent upon clinicians to identify and refer patients with features of or similar to those of achondroplasia to experts in the following disciplines: Genetics. A timely genetic-centric diagnosis allows therapy to begin as early as possible. […] Not treating achondroplasia can severely affect the height of a child throughout life. […] Starting earlier, then, signifies a large step toward helping children with achondroplasia reach their growth potential. […] The goal of Voxzogo use is improved linear growth or height in patients that permits them to engage in normal, independent daily living.

• #66 Achondroplasia – OrthoInfo -AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/achondroplasia/

  Achondroplasia is a bone disorder that results in dwarfism. Children who are born with achondroplasia typically have short arms and legs, a large head, and an average-sized trunk. They are shorter than most other people because of their bone abnormalities. […] Health complications are common in babies and children with achondroplasia, but with regular checkups and medical care, most of these can be detected early on and managed. Almost all children with the disorder can lead full and active lives. […] Currently, there is no cure for achondroplasia. Instead, your child’s doctor will focus on treating any problems or complications that may arise from the condition. […] Parents can help lessen the risk of weight gain by modeling healthy eating and exercise habits from an early age. […] You can help your child live the best life possible right from the start by taking them to all well-baby checkups and annual appointments. These visits give your child’s doctor the opportunity to identify and treat any potential complications of achondroplasia early on so that your child can thrive.

• #67 FDA approval grows use of growth therapy for children with achondroplasia  – CHOC Pediatrica

  https://care.choc.org/fda-approval-grows-use-of-growth-therapy-for-children-with-achondroplasia/

  The most common type of dwarfism, achondroplasia can now be treated with Voxzogo starting at birth, maximizing children’s growth potential. […] Many suspect this increased candidacy will further improve care of children with achondroplasia, the most common form of dwarfism. […] To begin treatment as early as possible, it is incumbent upon clinicians to identify and refer patients with features of or similar to those of achondroplasia to experts in the following disciplines: Genetics. A timely genetic-centric diagnosis allows therapy to begin as early as possible. […] Not treating achondroplasia can severely affect the height of a child throughout life. […] Starting earlier, then, signifies a large step toward helping children with achondroplasia reach their growth potential. […] The goal of Voxzogo use is improved linear growth or height in patients that permits them to engage in normal, independent daily living.

• #68 Achondroplasia Treatment West Palm Beach, FL | Dwarfism Treatment New Yrok, NY

  https://www.davidsfeldmanmd.com/achondroplasia-orthopedic-surgeon-west-palm-beach.html

  My approach to achondroplasia takes into account what is the most common problem that patients often suffer from, and the reason for disability later in life. Therefore the discussion of prevention and treatment of spinal problems (stenosis) […] I treat individuals with Achondroplasia from around the world and of all ages and spinal stenosis, with its inherent pain, weakness and eventual bladder and bowel dysfunction, is the most common complaint and reason for disability. […] IT IS PREVENTABLE AND TREATABLE. […] Yearly examinations and discussions of symptoms are required. If symptoms are occurring, even mild, an MRI will demonstrate the extent and location of the spinal compression. Surgery to decompress the stenosis to unroof the compression is often curative. […] A spinal fusion is necessary if the decompression requires removal of the joints or if there is kyphosis (hunch back), as often encountered in Achondroplasia. […] In order to enhance the fusion, I now do a minimally invasive side surgery at the same time at the lowest level to assure fusion, which is a problem when so much bone is removed to decompress.

• #69 New life changing treatment for dwarfism added to PBS | Health Portfolio Ministers | Australian Government Department of Health and Aged Care

  https://www.health.gov.au/ministers/the-hon-mark-butler-mp/media/new-life-changing-treatment-for-dwarfism-added-to-pbs

  Children born with the most common form of dwarfism will have access to a new life changing treatment on the Pharmaceutical Benefits Scheme (PBS). […] The Australian Government will list Voxzogo® (vosoritide) on the PBS for treatment of patients with achondroplasia whose growth plates are not yet closed. […] This is the first and only approved medicine on the PBS that targets the underlying cause of achondroplasia. […] Listing Voxzogo on the PBS could be life changing for children born with dwarfism and their families. […] It is the first time an effective treatment will be affordable for every family with an eligible child affected by this genetic condition.

• #70 Dwarfism | International Center for Limb Lengthening

  https://www.limblength.org/conditions/dwarfism/

  Not every patient with dwarfism requires treatment; it is a very personal decision made after weighing the risks and benefits. […] Our most common goals of treatment are: to obtain a functional height, normally between 4 feet and 10 inches (147 cm) and 5 feet and 2 inches (157 cm); to correct deformities like bowlegs to improve walking; to lengthen the arms to a functional length for self-care and driving; and to gain secondary psychological benefits from a more positive body image and body function. […] For patients who elect to lengthen, after undergoing several phases of lengthening at the International Center for Limb Lengthening, most girls achieve a height of 5 feet (152 cm) and most boys achieve a height of 5 feet 2-4 inches (157-163 cm). However, our goal is not only to increase height and arm length, but also to correct deformities of the ankle, knee, hip, spine and elbow.

• #71 Internet Scientific Publications

  https://ispub.com/IJIM/14/1/55916

  The main medical issue seems to be, if approved, does vosoritide offer a viable option to the two approved therapies: Human Growth Hormone therapy and limb-lengthening surgeries. […] The advantages of using vosoritide is that it can theoretically result in significant recovery of bone growth as shown in the medical section above. […] If we are going to examine this issue ethically, then there must be an open debate with all parties participating, and all options must be placed on the table, including the option that vosoritide, if approved, should be a viable option offered to children with Achondroplasia. […] If patients are made aware and comprehend the success data, short-term and long-term risks and benefits, alternatives and possible consequences and if safeguards are put in place to avoid the potential for coercion, then informed consent and informed assent can be obtained ethically for the use of vosoritide.

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