Clinical trials: Rare Disorders
X-Linked Genetic Diseases, Autosomal Recessive Disorder
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal…
- Trial name
- NCT04157595
- Testing
- Reproductive Genetic Carrier Screening
- Where
- 24 sites in Australia
- Volunteers
- 18,302 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
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
Friedreich Ataxia, Rare Diseases
Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
- Trial name
- EARLY-FA (NCT06560346)
- Testing
- Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Primary Hyperoxaluria Type 1
Proteomics of Primary Hyperoxaluria Type 1
The purpose of this study is to identify unique urine protein markers of Primary Hyperoxaluria type 1 (PH1) compared to healthy controls.
- Trial name
- PH1 (NCT03067142)
- Testing
- Observational
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Myotonic Muscular Dystrophy
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients.
- Trial name
- NCT00004769
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- University of Rochester