Emerging therapeutic approaches of neurogenetic diseases / 中华神经科杂志

Neurogenetic diseases are a group of hereditary diseases that predominantly affect the nervous system, including the central nervous system, peripheral nerves, and muscles. The clinical manifestations are complex, and the treatments are rather difficult. In recent years, with the in-depth study of the etiology and pathogenesis of neurogenetic diseases, gene therapeutic approaches developed for mutant genes, such as antisense oligonucleotides, RNA interference, adeno-associated virus-mediated gene transduction, small molecule compounds with gene modification effects, and clustered regularly interspaced short palindromic repeats/Cas9 gene editing strategies are gradually transformed into clinical applications. The drugs with potential therapeutic effects are developed in according to the promising targets within the pathogenic mechanism of diseases. These emerging therapeutic approaches provide innovative prospects for patients with neurogenetic diseases.

Randomized, blind, parallel-controlled and multiple-centre clinical trial on the effectiveness and safety of leuprolide acetate in the treatment of endometriosis / 中华妇产科杂志

Objective To evaluate the effectiveness and safety of leuprolide acetate in the treatment of endometriosis. Methods From Nov. 2007 to Oct. 2012, the patients who confirmed to be endometriosis were randomly divided into test group of 113 cases and control group of 116 cases. The test drug was the sustained-release agent of leuprolide acetate. The control drug was Enantone. The drugs were used for 3 times in total. After treatment, the ovarian mass volumes measured with type-B ultrasound, the scores of the patient′s subjective symptoms during non-menstrual and menstruation days, the pelvic signs during non-menstrual days, the changes of hormones [estradiol (E2), FSH, LH], and adverse events were observed. Results After the treatment, the rate of changes of ovarian mass volume (among them, at 12 weeks after the first injection, the median was -55.83% in the test group, -68.22% in the control group, P=0.336), the distinct improvement rate of symptom scores and pelvic signs during non-menstrual days [among them, at 12 weeks after the first injection, the rate of lower abdomen pain was 47.5%(48/101) in the test group, 44.0%(44/100) in the control group, P=0.881], the hormone (E2, FSH, LH) levels [among them, at 12 weeks after the first injection, the serum level of E2, was (33±38) pmol/L in the test group, (38± 40) pmol/L in the control group, P=0.414;the serum level of FSH, was (5.1±2.8) U/L in the test group, (5.3± 2.3) U/L in the control group, P=0.666;the serum level of LH, was (0.6±0.8) U/L in the test group, (0.6±0.9) U/L in the control group, P=0.907], had no statistically significant difference between the two groups (all P>0.05). The distinct improvement rate and improvement rate of symptom (lower abdomen pain, low back pain) scores during menstruation days at 12 weeks after the first injection, the rates of lower abdomen pain were 73.9%(34/46), 15.2%(7/46) respectively in the test group, 72.3%(34/47), 2.1%(1/47) respectively in the control group, had statistically significant difference between the two groups (P=0.026). There was no serious adverse event occurred in both two groups. The incidence rate of adverse event was 33.6%(38/113) in test group, 23.2% (27/116) in control group, there was no significant difference between the two groups (P=0.082). Conclusion Leuprolide acetate is effective and safe in the treatment of endometriosis.