Smith-Lemli-Opitz Syndrome and Cholic Acid
Smith-Lemli-Opitz SyndromeThe purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in serum cholesterol and reduction in harmful cholesterol precursors. SLOS participants will be treated with dietary cholic acid for 8 weeks and serum cholesterol and cholesterol precursor metabolites will be measured.
A Study of Soticlestat in Adults and Children With Rare Epilepsies
EpilepsyDravet Syndrome (DS)1 moreThe main aim is to assess the long-term safety and tolerability of soticlestat when used along with other anti-seizure treatment. Participants will receive soticlestat twice a day. Participants will visit the study clinic every 2-6 months throughout the study. Study treatments may continue as long as the participant is receiving benefit from it.
A Prospective Trial of Cooled Radiofrequency Ablation of Medial Branch Nerves Versus Facet Joint...
Lumbar Facet SyndromeChronic, non-neurogenic low back pain (CLBP) is a common condition that affects many individuals across their lives. The lumbar facet joint has been implicated as an important source of CLBP, with a prevalence of 15-45%. Elements of clinical history, physical examination, and imaging (radiographs, standard CT scan, standard MRI sequences) provide poor diagnostic specificity for pain of lumbar zygapophysial joint (Z-joint) origin. Thus, clinicians have traditionally relied upon MBN blocks to confirm or refute this diagnosis. The reference standard for the diagnosis of lumbar Z-joint pain is a positive response to dual comparative MBN blocks, which requires pain reduction of great than or equal to 80% of concordant duration to that expected of two different local anesthetics on independent occasions. Further, dual comparative MBN blocks have a high positive predictive value for determining the clinical outcome of lumbar MBN RFA for the treatment of lumbar Z-joint pain; when patients are appropriately selected using this reference standard and rigorous MBN RFA technique is implemented according to practice guidelines, studies demonstrate excellent clinical outcomes.
A Study Evaluating Venetoclax in Combination With Azacitidine in Participants With Treatment-Naïve...
Myelodysplastic Syndromes (MDS)This is a Phase 1b, open-label, non-randomized, multicenter, dose-finding study evaluating venetoclax in combination with azacitidine in participants with treatment-naïve higher-risk MDS comprising a dose-escalation portion and a safety expansion portion.
Azacitidine and Pembrolizumab in Treating Patients With Myelodysplastic Syndrome
High Risk Myelodysplastic SyndromeIPSS Risk Category Intermediate-11 moreThis phase II trial studies the side effects of azacitidine and pembrolizumab and to see how well they work in treating patients with myelodysplastic syndrome. Azacitidine may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Immunotherapy with monoclonal antibodies, such as pembrolizumab, may help the body's immune system attack the cancer, and may interfere with the ability of tumor cells to grow and spread. Giving azacitidine and pembrolizumab may work better at treating myelodysplastic syndrome.
PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma...
VHL Gene MutationVHL10 moreThe primary objective of this study is to assess the overall response rate (ORR) of von Hippel-Lindau (VHL) disease-associated clear cell renal cell carcinoma (ccRCC) tumors in VHL patients treated with PT2385.
CBDV vs Placebo in Children and Adults up to Age 30 With Prader-Willi Syndrome (PWS)
Prader-Willi SyndromeThis study aims to examine the feasibility and safety of cannabidivarin (CBDV) as a treatment for children and young adults with PWS.
Medication Treatment for Opioid Use Disorder in Expectant Mothers: Conceptual Model Assessments...
Opioid-Related DisordersDrug Addiction6 moreThis is a sub-study of NIDA CTN Protocol 0080: Medication Treatment for Opioid Use Disorder in Expectant Mothers (MOMs; Unique protocol ID: 2019-0429-1). Participants in MOMs will be offered the opportunity to enroll in this sub-study, which is designed to evaluate conceptual models of the mechanisms by which extended-release buprenorphine (BUP-XR), may improve mother-infant outcomes, compared to sublingual buprenorphine (BUP-SL). The additional data collected in this sub-study will be combined with data from the main MOMs trial. It is hypothesized that: (1) the buprenorphine blood levels will vary, depending on which formulation of buprenorphine was received, (2) the variation in buprenorphine blood levels will be associated with fetal behavior (including fetal heart rate variability) (3) the variation in buprenorphine blood levels will be associated with differences in mother outcomes (including medication adherence and illicit opioid use) (4) the variation in buprenorphine blood levels and in fetal behavior will be associated with infant outcomes (including neonatal opioid withdrawal syndrome and infant development).
HDM201 in Combination With MBG453 or Venetoclax in Patients With Acute Myeloid Leukemia (AML) or...
Acute Myeloid Leukemia (AML)High-risk Myelodysplastic Syndrome (MDS)This is a phase 1b, multi-arm, open-label study of HDM201 in combination with MBG453 or venetoclax in subjects with AML or high-risk MDS. For all subjects, TP53wt status must be characterized by, at a minimum, no mutations noted in exons 5, 6, 7 and 8. Two treatment arms will enroll subjects in parallel to characterize the safety, tolerability, PK, PD and preliminary antitumor activity of HDM201+MBG453 (treatment arm 1) and HDM201+venetoclax (treatment arm 2). In the treatment arm 1, subjects will receive HDM201 in combination with MBG453. In the treatment arm 2, subjects will receive HDM201 in combination with venetoclax. Venetoclax dose will be gradually increased (ramp-up) over a period of 4 to 5 days to achieve the daily target dose tested that will be subsequently continued. Upon the completion of the escalation part, MTD(s) and/or RD(s) of HDM201 in combination with MBG453 or venetoclax in AML and high-risk MDS subjects will be determined for each treatment arm.
A Phase 2 Study of Belzutifan (PT2977, MK-6482) for the Treatment of Von Hippel Lindau (VHL) Disease-Associated...
VHL - Von Hippel-Lindau SyndromeVHL Gene Mutation4 moreThis study is designed to investigate belzutifan as a treatment for VHL disease associated RCC.