Clinical trials: Rare Disorders
Rare Diseases
A Study to Evaluate Emapalumab in Japanese Healthy Volunteers.
This is a randomized, placebo controlled and double-blinded study to evaluate the pharmacokinetics (PK), pharmacodynamics (PD) and safety of a single dose (1 mg/kg) of emapalumab in adult healthy Japanese subjects.
- Trial name
- NCT04765553
- Testing
- NI-0501, Saline
- Where
- Japan
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Swedish Orphan Biovitrum
Rare Disorders, Rare Diseases
Artificial Intelligence for General and Rare Disease Diagnosis
A multicentre, randomised diagnostic accuracy study to evaluate whether the GENESIS AI diagnostic support system can improve diagnostic accuracy and efficiency for physicians managing real-world clinical general and rare cases.
- Conditions
- Rare Disorders, Rare Diseases, Generalist AI
- Trial name
- NCT07625436
- Testing
- AI-Assisted Diagnosis
- Where
- 11 sites in China
- Volunteers
- 243 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Creation of an Italian Network of Biobanks of Rare Diseases
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000.
- Trial name
- SATELLITES (NCT06782230)
- Where
- Italy
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Urologic Diseases, Male Infertility
Protocol N. 2014 - Observational Study on the Quality of Life of Outpatients
Prospective observational study on the quality of life of patients attending general urology, sexual medicine, reproductive medicine, functional urology, neuro-urology and uro-oncology clinics.The data relating to the clinical…
- Conditions
- Urologic Diseases, Male Infertility, Sexual Medicine
- Trial name
- NCT06193850
- Testing
- Observation during time
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele