Clinical trials: ROSAH
ROSAH
Evaluating the Safety and Tolerability of Orally Administered DF-003 in ROSAH Syndrome Patients
The purpose of this study is to evaluate the safety and tolerability of DF-003 in retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome patients.
- Trial name
- NCT06395285
- Testing
- DF-003
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 12 people
- Sponsor
- Shanghai Yao Yuan Biotechnology Ltd. (also known as Drug Farm)
ROSAH Syndrome, Anhidrosis
A Method Characterization Study to Evaluate Thermoregulatory Sweat Production in Healthy Volunteers and Patients With ROSAH Syndrome)
This study is designed to characterize a new quantitative method for measuring sweat production induced by controlled heat exposure. Approximately 20 healthy volunteers and up to 10 patients with ROSAH syndrome will be enrolled.
- Conditions
- ROSAH Syndrome, Anhidrosis, Hypohidrosis
- Trial name
- NCT07814209
- Testing
- Standardized Controlled Heat Exposure With Gravimetric Sweat Collection
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- The Third Xiangya Hospital of Central South University
Familial Mediterranean Fever (FMF), Autoinflammation
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.
- Conditions
- Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever, Fever
- Trial name
- NCT00001373
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Unrecognized Condition
Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
Alpha-1 kinase (ALPK1) has been reported as a potential causative gene for ROSAH Syndrome. Genetic variants including T237M have been found in ROSAH Syndrome patients.
- Trial name
- ROSAH (NCT05319132)
- Testing
- Adult subjects with ROSAH syndrome
- Where
- 5 sites in France
- Volunteers
- 4 people
- Sponsor
- Hospices Civils de Lyon