View clinical trials related to Adenosine Deaminase Deficiency.
Filter by:This study was designed as an observational, prospective, epidemiological screening study. Patients who have been admitted to the center and whose lymphopenia and/or Immunoglobulin E elevation has been detected in at least one examination in their medical history will be included. In accordance with the relevant legislation, patients are required to accept and sign the Informed Consent Form regarding their participation in the study. Current data that the physician has already questioned in his daily practice will be collected from patients who have agreed to participate in the study, and a blood sample will be taken from patients on Guthrie paper. This sample will be prepared by taking it from the patient as the physician deems appropriate, dripping it into a special area designated on Guthrie paper and drying it. The test result will be sent to the researcher by e-mail. In case of formation of new information for each patient, consultation will be provided by the responsible researcher. Thus, the prevalence of ADA enzyme deficiency disease in patients with lymphopenia will be evaluated. In addition, with this study, it will be scientifically demonstrated whether lymphopenia is a parameter that facilitates early diagnosis of ADA patients.
This observational study was designed as a prospective epidemiological screening study. Patients who applied to the centers participating in the study and were found to be lymphopenic in at least one examination will be included in the study. Up-to-date data will be collected from patients who have agreed to participate in the study, and a blood sample will be taken from patients on Guthrie paper. The blood taken will be sent to the Duzen Laboratories center located in Ankara and will be subjected to ADA metabolites analysis. For patients with a high metabolic test, the responsible investigator will advise on clarifying the diagnosis with a genetic test other than the study. In case of formation of new information for each patient, consultation will be provided by the responsible researcher. Thus, the prevalence of ADA enzyme deficiency disease in patients with lymphopenia will be evaluated. In addition, with this study, it will be scientifically demonstrated whether lymphopenia is a parameter that facilitates early diagnosis of ADA patients.
This observational long-term follow-up study is designed to collect safety and efficacy data from ADA-SCID patients previously treated with autologous ex vivo gene therapy products based on the EFS-ADA LV encoding for human adenosine deaminase (ADA) gene (EFS-ADA LV), as part of the OTL-101 clinical development program. No investigational medicinal product will be administered to these patients as part of the OTL-101-6 study.