Active clinical trials for "Rare Diseases"

The aim of the STEP registry is to collect and evaluate experience and data on the diagnosis and treatment of rare childhood tumors in order to use the knowledge gained to improve the treatment prospects for our patients. The rarity of a disease should not be a disadvantage for the young patients.

Prospective, multi-site, non-randomized (single arm) study to evaluate the feasibility, the yield and clinical utility of trio WGS in 30 critically ill patients in neonatology intensive care units (NICU) and pediatric intensive care units (PICU) in Belgium. Results are expected to be returned within 7 days after receipt of blood samples in the laboratory. Primary outcome will be evaluated after clinical interpretation, whereas secondary outcome will be evaluated from the clinical utility survey to be completed by clinical geneticists.

The goal of this clinical trial was to compare participants with first relapse or refractory Ewing's sarcoma when treated with investigational product (Vigil) in addition to the standard treatment of irinotecan and temozolomide compared to the standard treatment of irinotecan and temozolomide alone. The main question it aimed to answer is "Will participants who receive Vigil in addition to irinotecan and temozolomide have a prolonged time to progression and improved quality of life compared to the participants who receive irinotecan and temozolomide alone?".

This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative of symptoms. Researchers are creating a biobank (library) of samples and information to learn more about treating rare and undiagnosed diseases.

This research is being done to learn more about possible genetic causes of currently undiagnosed conditions, and to find out how the development of new technologies, such as DNA sequencing, can increase knowledge of the role genetic variants play in disorders and possibly how genetic variants may help de-termine the best treatment options. The recent development of new technologies has increased our ability to understand how genetic mutations are associated with disease. Using these technologies to find the genetic variants responsible for rare diseases is a rapidly growing field and has already begun to transform the way conditions with unknown causes are diagnosed and treated. Hypothesis: Identification of new genomic variants associated with idiopathic diseases and/or diseases of unknown etiology will advance medical knowledge about rare and common diseases.

This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to identify patients who have an increased likelihood of having Gaucher disease. This tool will be applied to a health system's electronic health records (EHR). The top 50 active patients per healthcare system will be identified as "highly ranked by the RDA" and moved to Phase II. As three to four healthcare systems are expected to participate in this study, between 150 to 200 persons are expected to be identified and included in Phase II. Phase II: Retrospective review of medical records of highly ranked persons: The listing of persons highly-ranked by the RDA from phase I will be forwarded to the study team within each participating healthcare system. After reviewing the RDA reports and medical records of each highly ranked person, study site personnel will determine eligibility for Phase III based on the relevant selection criteria listed in the section below. Phase III: Prospective diagnostic testing: Eligible persons (or their parent/guardian) from Phase II will be contacted and asked to provide consent for inclusion into the study. After consent is received, blood samples will be collected and sent for Gaucher diagnostic testing. Because of overlap in clinical symptoms between Gaucher disease and acid sphingomyelinase deficiency (ASMD), patients will also receive diagnostic testing for ASMD. Results will be shared with study site personnel, who will subsequently inform the study subject (and/or their parent/guardian, where appropriate) of results. It is anticipated that participation of a typical subject will be less than 3 months.

There are more than 7000 known genetic disorders, and the number of affected is estimated to be about 6-10% of the population. Around 30 to 40% of genetic disorders have physical changes in the face and skull such as Down's syndrome or Fragile X syndrome. Therefore, the known facial phenotype of many genetic disorders is highly informative to clinical diagnosis. Since a large number of genetic diseases are associated with special facial phenotypes that are difficult to remember, automated facial analysis such as Face2Gene and GestaltMatcher can assist in the identification and diagnosis of facial phenotypes related to various genetic diseases. Although the current advances in whole exome sequencing (whole exome sequencing) or whole genome sequencing (whole genome sequencing) have greatly improved the diagnostic rate of genetic diseases, about half of the patients are still undiagnosed. For patients with special facial phenotypes, the investigators believe that by combining automated facial analysis and whole exome sequencing data, it should be possible to provide a fast and accurate diagnostic model of genetic mutations for genetic diseases. GestaltMatcher Database is a medical imaging database of rare diseases developed by Professor Peter Krawitz of the University of Bonn, Germany. The database's artificial intelligence module will infer a patient's possible diagnosis based on the patient's photo, age, gender, race, and clinical description. The database will be open to medical researchers in related fields to improve the diagnosis of rare diseases. The investigators will use GestaltMatcher to assist in the diagnosis of patients, and compare the accuracy and significant differences in facial deformities between Taiwanese patients and patients from different countries. And use Eye Tracker to analyze how doctors diagnose patients through facial photos, and compare whether there are significant differences between foreign patients and Taiwanese patients in the diagnosis literature of Taiwanese doctors. The project will also analyze how genetic doctors at the University of Bonn in Germany diagnose patients, and compare it with Taiwanese doctors to better understand the differences in the process of doctors diagnosing patients and ethnic backgrounds.

Open-label, Phase I-II, first-in-human (FIH) study for A166 monotherapy in HER2-expressing or amplified patients who progressed on or did not respond to available standard therapies. Patients must have documented HER2 expression or amplification. The patient must have exhausted available standard therapies. Patients will receive study drug as a single IV infusion. Cycles will continue until disease progression or unacceptable toxicity.

Ewing's sarcoma characterized by the t(11; 22) (q24; q12) translocation at several but prioritized breakpoint sites, resulting in the EWS/FLI1 fusion gene is the second most frequently diagnosed primary malignant bone tumor in the US with an annual incidence, from birth to age 20, of 2.9 cases per million population. The survival rate for patients with high-risk recurrent disease (relapse < 2 years) is < 10% at 5 years. Moreover, of patients who progress after second line treatment, eighty percent do not achieve a second complete response and of these patients < 10% survive one year. Refractory patients to both frontline and second line therapy have even worse prognosis. The EWS/FLI1 gene is well known as the driver gene of Ewing's sarcoma. We designed a novel pbi-shRNA™ EWS/FLI1 Type 1 LPX which has demonstrated sufficient specificity, safety and efficacy in animal testing to justify Phase I testing. Clinical safety (no ≥ grade 3 product related toxic effect) and target specific activity has been observed with other bi-shRNA products involving 147 cancer patients (698 separate dose administrations) (BB-Investigational New Drug (IND) 14205; BB-IND 14938). Moreover, safety has been observed with IV delivery of pbi-shRNA™ EWS/FLI1 Type 1 LPX in murine and swine testing via multidose IV administration.

Exploratory study to examine the effect(s) of Imatinib mesylate treatment on life threatening rare diseases with known associations to one or more Imatinib mesylate -sensitive tyrosine kinases, and to identify the contribution of specific protein tyrosine kinases (PTKs) of that specific disease.