For example, one study examined the retinal degeneration of SLOS, which in rats does not occur until at least one month after birth. Genetic models
Genetic models of SLOS are created by knocking out the DHCR7 gene. One study used homologous recombination to disrupt DCHR7 in mouse embryonic stem cells. Similar to what is found in humans, heterozygous mice (having only one mutated allele) were phentoypically normal, and were crossed to produce pups (young mice) homozygous for the mutated allele. Although these pups died within the first day of life due to their inability to feed, they showed characteristics similar to humans with SLOS. They had decreased levels of cholesterol, increased levels of 7- and 8DHC, showed less growth and smaller birth weights, had craniofacial malformations, and less movement. Many also had a cleft palate, and decreased neuronal responses to glutamate. Overall however, the pups had fewer dysmorphic features than human patients with SLOS; they did not present limb, renal, adrenal or central nervous system malformations. This is explained by the fact that in rodents, maternal cholesterol can cross the placenta, and actually appears to be essential for the development of the fetus. In humans, very little maternal cholesterol is transferred to the fetus. In sum, the genetic mouse model is helpful to explain the neuropathophysiology of SLOS. Discoveries
Many discoveries in SLOS research have been made using animal models. They have been used to study different treatment techniques, including the effectiveness of simvastatin therapy. Other studies have examined behavioural characteristics while attempting to explain their underlying pathogenesis.
Participants were randomized to receive neoadjuvant chemotherapy with concurrent administration of either the fixed-dose combination of pertuzumab, trastuzumab, and hyaluronidase or intravenous pertuzumab and intravenous trastuzumab during the neoadjuvant and adjuvant therapies.The primary endpoint of FeDeriCa was non-inferiority of cycle 7 pertuzumab serum trough concentration comparing the fixed-dose combination of pertuzumab, trastuzumab, and hyaluronidase to intravenous pertuzumab. Secondary endpoints included cycle 7 trastuzumab serum trough concentration, pathological complete response (pCR), and safety. The fixed-dose combination showed non-inferior pertuzumab and trastuzumab serum trough concentrations compared to intravenous pertuzumab and trastuzumab. The pCR rate was 59.7% (95% CI: 53.3, 65.8) in the pertuzumab/trastuzumab/hyaluronidase arm and 59.5% (95% CI: 53.2, 65.6) in the intravenous pertuzumab and intravenous trastuzumab arm. The safety profile of the fixed-dose combination of pertuzumab, trastuzumab, and hyaluronidase is comparable to intravenous pertuzumab and trastuzumab, except for increased administration-related reactions.The FDA granted approval of Phesgo to Genentech Inc.

Society and culture
Legal status
On 12 November 2020, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion, recommending the granting of a marketing authorization for the medicinal product Phesgo, intended for the treatment of early and metastatic breast cancer. The applicant for this medicinal product is Roche Registration GmbH. Phesgo was approved for medical use in the European Union in December 2020. References
Further reading
"AusPAR: Pertuzumab/trastuzumab". Therapeutic Goods Administration (TGA). 11 October 2021. External links
"Pertuzumab". Drug Information Portal. U.S. National Library of Medicine. "Trastuzumab". Drug Information Portal. U.S. National Library of Medicine. "Hyaluronidase". Drug Information Portal. U.S. National Library of Medicine.