Klinefelter Syndrome

Researchers are evaluating the use of XYOSTED as a testosterone replacement therapy in adolescent males aged 12 to under 18 years with primary or secondary hypogonadism, a condition where the body produces little or no testosterone. This Phase 34 open-label study aims to assess how well XYOSTED supports the continuation or start of puberty, along with its safety and the testosterone levels it maintains. Participants will receive XYOSTED injections at doses tailored to their weight and targeted pubertal stage. Dose adjustments will be made based on testosterone levels measured at specific intervals after dosing, with evaluations approximately every three months to reach the desired hormone levels. After completing the 52-week initial study period, participants may enter a 24-month extension to further monitor long-term safety and treatment effects. Throughout the study and extension, participants will undergo clinical examinations including pubertal staging, blood tests for testosterone and other labs, bone density scans, body composition assessments, and X-rays to monitor bone age. Researchers will track changes in puberty progression, bone health, body measurements, and hormone levels. Participants will attend regular clinic visits every six months during the extension phase to continue safety and pharmacokinetic evaluations.

This research aims to evaluate Social Management Training SMT, a 10-session group-based psychosocial intervention, for adults aged 16 to 65 with sex chromosome aneuploidies SCAs. The study focuses on assessing whether SMT can improve mental health as the primary outcome, along with secondary outcomes related to executive functions and autism symptoms. The intervention builds on previous work with men with Klinefelter syndrome and adapts SMT to a digital format to reach a wider Norwegian population with various SCAs. Participants will take part in 10 group sessions delivered online, covering topics such as social information processing, emotion regulation, executive functions, and individual learning goals. The study uses a single-group multiple baseline design with measurements collected at six time points three before and three after the intervention, spanning 30 weeks. This design allows comparison of outcomes before and after SMT to examine feasibility, acceptability, and potential benefits. During the study, participants will complete questionnaires measuring mental health, social responsiveness, and executive function multiple times before and after the intervention. The Symptom Checklist 25 SCL-25 is the primary tool for mental health assessment, while the Social Responsiveness Scale and Behavior Rating Inventory of Executive Function are secondary measures. The study will monitor participants throughout the 30-week period and aims to include 20-30 adults with genetically confirmed SCAs.

Myelodysplastic syndromes MDS are chronic blood disorders marked by ineffective blood cell production and normal marrow richness. MDS affects mostly older adults and carries a risk of progressing to acute leukemia in 30 to 40% of cases. This study aims to build a biocollection to better understand the clinical and biological markers that predict progression to acute myeloid leukemia by studying subgroups of MDS patients with different genetic and chromosomal characteristics. The study involves collecting biological samples and clinical data from patients diagnosed with or suspected of having MDS. Researchers will investigate specific genetic mutations affecting RNA splicing, particularly mutations in the SF3B1 gene, and chromosomal deletions such as 5q deletion. The study focuses on three scientific projects exploring splicing abnormalities, the impact of chromosomal deletions on disease progression, and the clonal architecture in patients progressing to leukemia. Participants will provide biological material collected at the research center, and clinical data will be gathered during diagnosis and follow-up visits. The research team will perform detailed molecular analyses, including RNA sequencing, protein detection, and enzymatic studies to understand the disease mechanisms. The primary outcome is an epidemiologic study of the MDS cohort over five years, aiming to identify prognostic markers and improve understanding of MDS progression. Participation may last several years, with ongoing data and sample collection.

Researchers are evaluating whether testing embryos for chromosomal abnormalities, called aneuploidy, can help select embryos more likely to result in a healthy live birth. This study focuses on embryos from assisted reproductive technology ART that are already undergoing genetic testing for monogenic disorders PGT-M. The goal is to see if preimplantation genetic testing for aneuploidy PGT-A can reduce miscarriages and improve the chance of healthy births by avoiding embryos unlikely to succeed. This observational study does not introduce new treatments but collects data on aneuploidy from embryo biopsies and the spent culture media, the fluid in which embryos grow. Both sources of DNA will be analyzed to predict whether embryos will lead to live births. The study will compare these predictions to actual clinical outcomes, assessing the positive predictive value how often embryos predicted to succeed do so and the negative predictive value how often embryos predicted to fail do not result in live birth. Participants will undergo standard care with PGT-M biopsies, and additional samples may be collected before and after birth for further validation, including chorionic villus sampling, amniocentesis, fetal cells from maternal blood, and newborn DNA, though these are optional. Live birth data will be collected up to 10 months after embryo transfer. About 220 patients and 540 embryo transfers will be involved, with recruitment expected to take two years. The study aims to provide evidence on whether PGT-A should be used in clinical practice.

Researchers are investigating the impact of testosterone undecanoate compared to a placebo on reducing liver fat in overweight or obese men who have type 2 diabetes or prediabetes along with low testosterone hypogonadism. This condition may contribute to metabolic syndrome, cardiovascular disease, and non-alcoholic fatty liver disease NAFLD, which are increasing worldwide and linked to insulin resistance and fat buildup in the liver. The study also explores the role of testosterone in glucose metabolism and heart health in this high-risk group. Participants receive either intramuscular injections of testosterone undecanoate 1000mg4ml at the start, after 6 weeks, and then every 10 weeks for a total of 52 weeks, or a similar placebo injection on the same schedule. After this 52-week randomized, quadruple-blind phase, an additional open-label extension lasting 108 weeks will follow to examine long-term effects on cardiometabolic health. The study measures changes in liver fat, visceral fat, pancreatic fat, myocardial fat, glycemic control, and cardiovascular safety. During the study, participants undergo regular assessments including body measurements, blood tests for insulin sensitivity, HbA1c, lipid levels, blood pressure, and questionnaires on quality of life, sexual function, and diabetes management satisfaction. Imaging scans evaluate fat content in various organs and heart perfusion. Safety is closely monitored throughout both study phases. Total participation may last up to three years, combining the initial treatment and the extension period.

Researchers are studying endothelial dysfunction in men aged 30 to 50 who have vasculogenic erectile dysfunction ED confirmed by penile Doppler ultrasound. The study also investigates changes in endothelial function in men with hypogonadism before and after they begin testosterone therapy. The research aims to better understand how endothelial function is affected by ED and hormonal treatment and to fill gaps regarding the effects of PDE5 inhibitors and testosterone therapy on vascular health. Participants are divided into three groups one group of men with vasculogenic ED receiving daily low-dose phosphodiesterase type 5 PDE5 inhibitor therapy, a second group of hypogonadal men receiving testosterone therapy following clinical guidelines, and a third group of men with vasculogenic ED who receive no intervention. Endothelial function is measured using the EndoPAT device at the start of the study and again at 3 and 6 months after treatment begins or baseline for the no-intervention group. Throughout the study, participants undergo assessments of endothelial function by Reactive Hyperemia Index RHI using EndoPAT, as well as evaluations of cardiovascular health markers, sexual function scores, and monitoring for adverse events at baseline and at 3 and 6 months follow-ups. The study is non-randomized and open-label, with a total participation duration of 6 months to evaluate changes over time in endothelial and cardiovascular health linked to ED and hormonal therapy.

Researchers are evaluating how advanced treatments for male patients with non-small cell lung cancer NSCLC affect sexual health and hormone levels. The study focuses on assessing the incidence of endocrine toxicity and sexual dysfunction, including erectile dysfunction, in men undergoing active cancer treatment. This research highlights an important but often overlooked aspect of quality of life in oncology, especially for younger patients receiving targeted therapies, immunotherapy, or chemotherapy. The study includes male patients with advanced or metastatic NSCLC who are actively receiving various anticancer treatments. Participants are grouped based on their cancer subtype and treatment type, including targeted drugs such as Alectinib, Brigatinib, Lorlatinib, Osimertinib, Sotorasib, Dabrafenib, Trametinib, and Selpercatinib, immunotherapy agents like Pembrolizumab, Cemiplimab, and Nivolumab, and chemotherapy drugs including Carboplatin, Pemetrexed, and Paclitaxel. Treatment dosages and schedules vary, with some drugs taken daily and others administered intravenously every 14 to 21 days. Participants will be monitored from the start of treatment for up to one year to track the occurrence of sexual dysfunction, hypogonadism, and erectile dysfunction. The study involves collecting patient-reported outcomes and laboratory assessments to measure these effects. Male patients must be sexually active prior to treatment and have good performance status. The trial is observational, with no placebo or control group, and aims to provide comprehensive data on how anticancer treatments impact male sexual health during therapy.

Researchers are evaluating the safety and effectiveness of stem cell or stem cell-derived exosome therapy for people with gonadal failure, which includes testicular failure, hypogonadism, ovarian insufficiency, and premature ovarian failure POF. The study focuses on adults aged 20 to 50 who have not responded well to usual treatments like hormone replacement therapy or assisted reproductive technologies. It aims to explore whether this regenerative treatment can restore hormone production and improve reproductive function, especially in a region where donor sperm and eggs are not allowed. Participants will receive a single injection of adipose-derived stem cells or exosomes directly into their testes or ovaries under anesthesia. The stem cells or exosomes are prepared in a specialized lab and checked for safety and quality before administration. This open-label pilot study includes 60 participants, divided equally between men and women. Follow-up visits occur at 3, 6, 9, and 12 months after treatment to track changes in hormone levels, gonadal function, and reproductive capacity. During the study, participants will have blood tests to measure hormones like testosterone and estradiol, imaging scans to assess gonadal tissue, and semen analysis for men. Researchers will monitor for any side effects or complications, including infections or immune reactions. The main outcome is the change in reproductive capacity after 12 months. Data collected will help guide future larger trials and contribute to developing new fertility treatments using regenerative medicine.

Researchers are conducting the GALAXY Registry study to learn more about individuals with X and Y chromosome variations, also known as sex chromosome aneuploidies. This observational study aims to collect detailed information from medical records of hundreds of patients seen at various clinics across the United States. The goal is to improve health outcomes and the care provided to people with these genetic variations. The study does not involve any treatment or intervention. Instead, it gathers data such as genetic test results, imaging, medications, and other health information over time. The registry collects this data longitudinally, following participants for up to 15 years to observe the development of various health conditions. Participants provide access to their medical records, and researchers track the occurrence of health conditions, including mental health diagnoses, obesity, dyslipidemia, hypertension, hypothyroidism, hyperthyroidism, and diabetes. The study monitors these outcomes from the start and continues for up to 15 years. Participants of all ages and genders can join, and the study includes regular data collection without requiring additional treatments or procedures.

Researchers are studying why people with Turner Syndrome, galactosemia, premature ovarian insufficiency POI, variations in sex characteristics, and those receiving high-risk gonadotoxic therapy have trouble getting pregnant or experience early menopause. The study aims to understand these conditions better and evaluate if freezing gonadal tissue can help preserve fertility in affected individuals. This observational study also explores the biological mechanisms causing follicle loss through advanced tissue analysis. Participants may undergo physical exams, blood tests, body measurements, and pelvic ultrasounds. Some may have surgery to remove gonadal tissue, which will be frozen and stored for future use. A portion of this tissue will be used for research to study follicles and gametes before and after freezing. The study includes multiple groups children and adolescents with various conditions at risk for ovarian dysfunction, including those who respond poorly to ovarian stimulation and those undergoing prophylactic gonadectomy. Participants will have follow-up visits including a checkup six weeks after surgery and additional visits up to 18 months post-surgery, with phone follow-ups every 12 to 24 months. Researchers will assess tissue quality, hormone levels, and gene expression to understand follicle loss and preservation. The study lasts 30 years, tracking long-term outcomes and potential complications related to fertility preservation and gonadal tissue cryopreservation.