A Prospective Sub-Study of the Global Hypophosphatasia Registry

In this prospective observational sub-study, participants with pediatric-onset hypophosphatasia (HPP) (perinatal/infantile- or juvenile-onset) of any age will be followed for a minimum of 5 years at sites in the United States and potentially 1 or 2 other countries.

F For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

Background Spinocerebellar ataxia type 7 (SCA7) is disease in which people have problems with coordination, balance, speech and vision. It is caused by a change in the ATXN7 gene. A mutation in this ATXN7 gene causes changes in eye cells, which can lead to vision loss. There is no cure …

D David SC Hui, MD

Prospective Study on Clinical Outcomes of Spontaneous Pneumothorax

Pneumothorax can be fatal if treatment is delayed or the pneumothorax is refractory. However, the mortality rates and their risk factors were mainly reported from retrospective studies, and local data regarding the mortality of spontaneous pneumothorax is scarce. This study aims at evaluating the in-hospital mortality and relevant clinical outcomes …

Optimizing Treatment on Idiopathic Inflammatory Myopathies

As a T2T, our patients with idiopathic inflammatory myopathies will receive pulse therapies with methyprednisolone and/or human intravenous immunoglobulin, or only methyprednisolone at disease onset. This scheme is an internal routine protocol of our Service.

S Shirley Su, MBBS

Assessment of Functional and Symptom Outcomes for Survivors of Paranasal Sinus, Nasopharyngeal and Skull Base Tumors

To learn about the symptoms and changes our patients experience while receiving treatment for sinonasal or nasopharyngeal cancer

R Recruitment Department

ImpaCt Of Shiftwork on METabolic Flexibility and Skeletal Muscle Clocks

The purpose of this study is to determine the impact of real-world shiftwork on metabolic flexibility.

C Claire COMBESCURE

Association of Intrahepatic Cholestasis of Pregnancy and Chronic Placental Inflammation

This observational prospective study will help to determine if an immune process similar to allograft rejection is responsible for the occurrence of an intrahepatic cholestasis of pregnancy (ICP). If so, it would suggest the potential benefit of immunomodulatory therapeutics.

M Marcus Vetter, PD Dr. med.

Digital Voice Analysis as a Measure of Frailty and Distress

This study evaluates if it is possible to identify quantitative parameters from audio signals to describe the changes in patient's state in relation to frailty and distress.

M Martin Dworschak, MD, MBA

Validation of Continuous Transcutaneous Carbon Dioxide Monitoring in VA-ECMO Patients

Carbon dioxide in patients on veno-arterial extracorporeal membrane oxygenation (VA-ECMO) is eliminated via respirator as well as via the oxygenator's membrane of the ECMO machine. Consequently, monitoring of end-tidal carbon dioxide tensions is limited, which can result in marked swings towards non-physiological values. Hyper- and hypocapnia, however, can have detrimental …

C Clélia COUTZAC, MD

GastrOesophageal Tumor, Immune Microenvionnment (GOTIM)

This trial is a prospective, monocentric, non-therapeutic, interventional cohort study aiming to decipher the immune TME through standard neoadjuvant CT in resectable G/GEJ adenocarcinomas. This study will also longitudinally monitor MRD during neoadjuvant and adjuvant therapy.