Congenital Adrenal Hyperplasia

Researchers are conducting a Phase 3 clinical trial to evaluate the safety and effectiveness of AOC 1044, also known as delpacibart zotadirsen, for treating Duchenne Muscular Dystrophy DMD in boys aged 7 to 16 with specific gene mutations suitable for exon 44 skipping. This study is designed as a randomized, double-blind, placebo-controlled trial to assess the impact of this intravenous treatment on muscle function over time. Participants will be randomly assigned to receive either AOC 1044 or a placebo infusion every 6 weeks for 54 weeks, totaling 9 doses during the double-blind treatment period. After this, all participants can join an open-label extension where they receive AOC 1044 every 6 weeks for another 54 weeks, adding 9 more doses. Following the final dose at week 102, participants will have assessments at weeks 108 and 114 to evaluate safety and treatment effects. During the study, participants will undergo various assessments including tests for time to rise velocity, muscle strength, walking and climbing abilities, and quality of life measures. Muscle enzyme levels and global impressions of severity and change from both patients and caregivers will also be monitored. Safety and tolerability will be reviewed regularly by an independent committee. Overall participation lasts over two years, including screening, treatment, extension, and follow-up phases.

Researchers are evaluating the safety, effectiveness, and how the body processes and responds to atumelnant treatment in children with classic congenital adrenal hyperplasia CAH. This Phase 23 study includes a double-blind, randomized portion and an open-label extension to better understand treatment effects in pediatric participants aged 1 to under 18 years. The study is designed with multiple parts, including sequential cohorts based on age groups to carefully monitor safety and outcomes. Participants will receive atumelnant tablets once daily by mouth with doses adjusted based on their weight. The study is divided into three parts Part A involves open-label, semi-sequential cohorts for children aged 12 to under 18 and later for those aged 1 to 11 Part B is a randomized, double-blind, placebo-controlled phase evaluating active treatment versus placebo and Part C is an open-label extension where participants from Parts A and B may continue treatment. Safety reviews guide progression between cohorts. Throughout the study, participants will have their hormone levels monitored, including morning serum androstenedione and 17-hydroxyprogesterone, along with blood concentration measurements of atumelnant. The trial tracks changes in glucocorticoid doses and hormone levels over time up to 260 weeks in the extension phase. The study also assesses treatment compliance and overall safety, with participation lasting from initial screening through extended follow-up.

Researchers are evaluating the safety and effectiveness of a monthly Leuprorelin treatment given for 24 months in children diagnosed with central precocious puberty CPP. This phase 4, single-arm, open-label study focuses on children with early puberty signs, primarily girls younger than 9 years and boys younger than 10 years, who have reached Tanner stage 2 or higher. The study aims to understand how this treatment impacts hormone levels and puberty progression over two years. Participants will receive Leuprorelin injections every four weeks for up to 24 months. This treatment is designed to influence hormone levels by suppressing luteinizing hormone LH after stimulation with gonadotropin-releasing hormone GnRH. The study tracks changes in hormone levels, pubertal development, growth parameters like height and weight, and monitors for any treatment-related adverse events during this period. During the trial, children will undergo regular assessments including hormone tests to measure LH, follicle-stimulating hormone FSH, testosterone, and estradiol levels, as well as evaluations of their pubertal stage and growth. Safety is closely monitored by recording any side effects related to the treatment. The primary outcome is the suppression of peak LH levels 24 weeks after starting treatment, with ongoing follow-ups up to 96 weeks to observe longer-term effects and safety.

Researchers are investigating atumelnant in adults aged 18 to under 75 years with classic congenital adrenal hyperplasia CAH caused by 21-hydroxylase deficiency 21-OHD. This Phase 3, global, randomized, double-blind, placebo-controlled study aims to assess the effectiveness, safety, pharmacokinetics, and pharmacodynamics of atumelnant in participants who have been on stable glucocorticoid GC therapy for at least two months. Eligible participants enter a screening period lasting 3 to 6 weeks to confirm suitability for the study. After screening, participants are randomly assigned in a 21 ratio to receive either 80 mg of atumelnant orally once daily, with a possible dose increase to 120 mg at Week 20, or a matching placebo once daily for 32 weeks. The study compares these two groups to evaluate the effects of atumelnant alongside usual GC treatment. During the study, participants will have regular assessments including blood tests to measure hormone levels such as androstenedione A4 and 17-hydroxyprogesterone 17-OHP at baseline and specified weeks. Researchers will monitor participants hormone control, GC doses, safety, and adherence. The main outcome is the proportion of participants achieving morning post-GC A4 levels within the normal range while on physiologic GC replacement at Week 32. The total participation duration includes the screening and 32-week treatment periods.

Researchers are evaluating the effects of traditional Chinese medicine combined with intradermal acupuncture on girls with idiopathic precocious puberty, a condition characterized by early onset of puberty without an identifiable cause. This phase 3 randomized controlled trial aims to determine if combining acupuncture point stimulation with herbal treatment can improve symptoms and prevent the condition from worsening. The study focuses on girls with mild to moderate precocious puberty and explores whether this combined approach offers benefits beyond traditional herbal medicine alone. Participants will be randomly assigned to one of two groups. One group will receive Ziyin-Xiehuo traditional Chinese medicine granules twice daily along with intradermal acupuncture point stimulation targeting specific points, applied three times daily with needles changed every two days, for a duration of six months. The other group will receive only the traditional Chinese medicine granules twice daily for the same six-month period. This design allows comparison between combined therapy and herbal medicine alone. During the study, researchers will monitor participants breast development changes, particularly the reduction or disappearance of mammary nucleus size at three months. They will also assess bone age changes compared to chronological age over six months. Various evaluations such as ultrasound measurements of uterus and ovary size, Tanner staging, and hormone treatment history will be collected. Safety and efficacy will be carefully observed throughout the six-month treatment period.

Researchers are evaluating different doses of Lu AG13909 in adults with congenital adrenal hyperplasia CAH, a rare genetic disorder that affects hormone production. The study aims to understand the safety, tolerability, how the body processes Lu AG13909, and the bodys response to this investigational drug. The research is conducted across multiple phases to assess these aspects carefully. Participants will receive multiple intravenous doses of Lu AG13909 according to specified dosing schedules divided into three parts Part A, Part B, and Part C. Each part starts after confirming the safety and tolerability of the dose from the previous part. After Part C, participants may have the option to continue treatment in an extension phase. The dosing and treatment schedules are carefully planned and monitored throughout the study. During the trial, participants will undergo regular assessments including blood tests to measure hormone levels like 17-hydroxyprogesterone and androstenedione, as well as monitoring for treatment-emergent adverse events and the presence of anti-drug antibodies. Pharmacokinetic parameters such as serum concentration and elimination half-life of Lu AG13909 will be tracked up to several months. The total participation duration can extend up to about a year or more depending on the study part and extension involvement.

Researchers are evaluating the effectiveness of acupuncture compared to metformin, both combined with lifestyle management, in improving glucose control in women with insulin resistance and polycystic ovary syndrome PCOS. The study aims to see if these treatments improve ovulation, hormone balance, quality of life, and symptoms of anxiety and depression, while also investigating if acupuncture has fewer side effects. They also explore whether these treatments can reverse molecular changes that may help prevent type 2 diabetes. Participants will be randomly assigned to one of three groups lifestyle management alone, lifestyle management plus acupuncture, or lifestyle management plus metformin. Acupuncture treatments involve inserting sterile needles into specific abdominal and leg acupuncture points related to ovarian and pancreatic function, administered three times weekly for four weeks, then twice weekly for twelve weeks. Metformin is taken orally, starting at a low dose and gradually increasing to 1500 mg daily over 16 weeks. All women receive lifestyle advice on weight management, diet, and exercise at the start. During the study, participants undergo assessments at the start, after 4 months of treatment, and again 4 months post-treatment. These include blood tests measuring insulin sensitivity, glucose levels, hormone levels, and molecular markers from tissue samples. Researchers will also monitor menstrual patterns, ovulation, quality of life, mental health symptoms, eating habits, and treatment side effects. The study lasts 8 months with ongoing evaluations to determine the cost-effectiveness and overall impact of each treatment approach.

Researchers are investigating how progesterone affects luteinizing hormone LH pulse frequency during waking and sleep periods in mid- to late pubertal girls, both with and without hyperandrogenism HA. The study aims to find out if progesterone reduces waking LH pulse frequency more than sleep-associated LH pulse frequency in girls without HA, and whether this effect is less in girls with HA. The study is a randomized, placebo-controlled, double-blind crossover trial involving mid- to late pubertal girls at Tanner breast stage 3 or higher but no more than 2 years after menarche. Participants will attend two 18-hour clinical research unit admissions across separate menstrual cycles, receiving either oral micronized progesterone 0.8 mgkg at 7 AM, 3 PM, 11 PM, and 7 AM or placebo. Blood samples will be collected every 10 minutes overnight to measure LH pulses and other hormones. After at least two months, participants will switch treatments for the second admission. Participants will be closely monitored throughout the study with frequent blood tests to characterize LH secretion patterns. The main measure is LH pulse frequency while awake, with sleep LH pulse frequency as a secondary measure. The study includes detailed hormone analysis and statistical modeling to compare effects between girls with and without HA. The total participation includes two inpatient admissions separated by at least two months.

Researchers are studying the long-term safety, tolerability, and efficacy of atumelnant CRN04894 in people with congenital adrenal hyperplasia CAH. This open-label extension study includes participants who completed a prior Crinetics atumelnant CAH study and were judged by investigators to have an acceptable benefit-risk profile and potential benefit from continued treatment. Approximately 150 to 200 participants are expected to enroll. Participants will receive atumelnant orally during an open-label treatment period lasting up to two years. The dose will not exceed the highest dose explored in the previous parent study. This study follows one treatment group only, with no placebo or comparator groups. During the study, participants will undergo regular safety and efficacy assessments including monitoring for adverse events, adrenal insufficiency, adrenal crisis, and hospitalizations related to CAH. Blood tests will measure hormone levels such as androstenedione and 17-hydroxyprogesterone, and glucocorticoid dosing will be tracked over time. The study aims to follow participants for up to 108 weeks to evaluate these outcomes.

This research aims to validate the B-COMPASS, a computational model developed by the BEAMER project to improve patient adherence to treatment across various diseases. Adherence to treatment is a widespread issue leading to increased healthcare use and premature death, with about half of medications not taken as prescribed. The study evaluates the models ability to predict adherence, identify patient support needs, and enhance healthcare engagement in six therapeutic areas, including cardiovascular, endocrinology, immunology, neurology, oncology, and rare diseases. Participants complete the BEAMER questionnaire, which the B-COMPASS uses to group patients based on their adherence needs and predict their adherence. Patients are randomized into a control group receiving standard care or an intervention group receiving enhanced engagement through educational materials for healthcare providers tailored to the patients B-COMPASS profile. Engagement occurs in person or by phone, depending on patient schedules, and healthcare providers may also be randomized to limit knowledge of the B-COMPASS in control groups. Participants are involved in two main data collections spaced from 2 weeks to 6 months apart, during which adherence measures, patient support needs, and perceptions of engagement are assessed. The study measures the accuracy, validity, and reliability of B-COMPASS predictions, its impact on adherence, patient and provider perceptions, and cost-effectiveness. The total participation timeline varies by site and disease area, with continuous monitoring of healthcare utilization and patient experience.