-
Categories
-
Pharmaceutical Intermediates
-
Active Pharmaceutical Ingredients
-
Food Additives
- Industrial Coatings
- Agrochemicals
- Dyes and Pigments
- Surfactant
- Flavors and Fragrances
- Chemical Reagents
- Catalyst and Auxiliary
- Natural Products
- Inorganic Chemistry
-
Organic Chemistry
-
Biochemical Engineering
- Analytical Chemistry
- Cosmetic Ingredient
-
Pharmaceutical Intermediates
Promotion
ECHEMI Mall
Wholesale
Weekly Price
Exhibition
News
-
Trade Service
Institutionally, Angelman syndrome is caused by a mutation or loss of a gene called UBUE3A.
each of us inherits a UBU3A gene (located on chromosome 15) from our parents.
, only matriarchal copies are active in neurons, while patriarchal copies are silent.
in patients with Angelman syndrome, the maternal UBU3A allegen mutates or isogens, so their brain cells do not express the active UBA3A protein.
rare neurogenetic disease, there is currently no approved treatment.
August 16, 2019, Ultragenyx Pharmaceuticals and GeneTx Biotherapeutics, two U.S. biopharmaceutical companies focused on developing new drugs for severely rare diseases, jointly announced that they will work together to develop an antonymical oligonucleotide therapy GTX-102 for Angelman syndrome that activates a pyridoxine copy of UBUE3A to restore the protein to normal levels.
May 4, the FDA granted GTX-102 fast-track eligibility to treat Angelman syndrome.
, Ultragenyx and GeneTx teamed up to launch a pilot gene therapy for Angelman syndrome to assess the safety of the treatment.
the trial was called off after two subjects temporarily lost their ability to walk.
26, Ultragenyx and GeneTx released interim data for the phase I/II trial of GTX-102 for the treatment of Angelman syndrome.
five patients with Angelman syndrome between the ages of 5 and 15 in the trial group.
patients were given GTX-102 once a month through intravertebrate injections in the lower back (waist) for 4 months in accordance with the dose incremental programme.
dose is about 10 times the minimum dose.
subject showed leg weakness after receiving the second highest dose of single dose.
four other subjects experienced the same adverse reactions after receiving the highest dose.
these symptoms appear one to four weeks after the participants were last given the drug.
two of the patients had lower limbs that were unable to walk or carry weight.
side effects appear to be the result of neuroinflamm at the site of the drug injection, possibly due to the build-up of the drug in the region.
, chief executive of Ultragenyx, said: "In animal studies, the drug did not cause similar adverse reactions.
, however, we do know that anisotrine oligonucleotides can have local toxic side effects at high concentrations.
, however, Elizabeth Berry-Kravis, a professor of pediatrics, neuroscience and biochemistry at Rush University Medical Center who was involved in the clinical study, said the subjects recovered after receiving drugs to reduce inflammation.
even those who can't support themselves with their legs can walk well, and they're actually more coordinated now than they were before they took part in the study.
the benefits of the drug, when the researchers evaluated the subjects on the 128th day, all five showed significant improvements in some areas, including communication, sleep and motor skills.
first few weeks, parents and caregivers reported that subjects had learned new language and gestures.
first time we've seen patients use forks independently, learn to swim on their own, use enhanced communication devices, be able to play interactive games with their families, and so on," says Ultragenyx's official website, Berry-Kravis.
" "However, adverse events can no longer occur."
," she added.
, the two companies plan to limit the maximum dose to one range, ensuring that the drug improves the patient's symptoms without causing leg weakness.
also plan to change the way they are given so that they do not accumulate at the injection site.
the patient lowers the position of the head so that the drug solution flows more efficiently to the brain," Kakkis said.
" GeneTx's chief medical officer, Scott Stromtt, said the two companies would seek FDA approval before resying research.
"We hope to start taking the drug in the next one to two months, " he said.
because parents are very excited about the positive changes in their children. Mark Zylka, a professor of cell biology and physiology at the University of North Carolina at Chapel Hill who pioneered the
field, was not involved in the study, but said all drugs have side effects at some point and may just need to adjust the dose better.
Zylka is working on a treatment for Angelman syndrome that uses gene-editing technology CRISPR to silence copies of UBU3A's parent line.
said: "The rapid improvement observed in the participants is encouraging.
suggests that the idea of opening a copy of the patriarchal gene does have the potential to help people with Angelman syndrome.
" In addition, Roche, Biogen and Ionis are exploring similar therapies for the syndrome.
others are excited about the significance of the results for other brain diseases.
one of the biggest problems in the field is how long the treatment window is for neurodevelopmental disorders like Angelman's syndrome," said Timothy Yu, an assistant professor of pediatrics at Harvard University.
results from the Ultragenyx and GeneTx trials suggest that the treatment is effective even in adolescents.
"It's early days, and we have to be careful," Yu said.
" Reference 1 s genetherapy for autism-linked condition weakened legs, robbing people of two people of ability to walk (Source: Science / Spectrum) 2 s GeneTx and Ultrageny Profile Positive Interim Phase 1/2 Data on Investigational GTX-102 Demonstrationing In Patients with Angelman (Source: Ultragenyx.