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Found 111 clinical trials
Featured trial
CAHtalyst Study: A Research Study for Adults with Classic Congenital Adrenal Hyperplasia (CAH)

The CAHtalyst Study is a clinical research study evaluating an investigational medication for adults 18 years of age and older who have been diagnosed with classic congenital adrenal hyperplasia (CAH). The investigational medication is an oral capsule that will be taken twice daily with breakfast and evening meals. All participants who …

classic congenital adrenal hyperplasia
congenital adrenal hyperplasia
  • 31 views
  • 23 Nov, 2020
  • 1 location
Featured trial
Expanded Access with Adjunctive Ganaxolone (GNX) Treatment in Children and Young Adults with Cyclin-dependent Kinase-like 5 (CDKL5) deficiency disorder (CDD)

The primary objective is to provide GNX to patients ≥ 2 years with CDD-related seizures who are refractory to, or intolerant of, standard therapy.

  • 0 views
  • 30 Jun, 2021
  • 2 locations
Featured trial
Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank

Background: DNA tells the body how to grow and function. Williams-Beuren syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) are rare diseases caused by

supravalvular aortic stenosis
rare diseases
stenosis
  • 74 views
  • 23 Nov, 2020
  • 1 location
Featured trial
Rare disease registries for certain lysosomal storage disorders, including, but not limited to, Fabry, Gaucher, MPS I, and Pompe diseases (each, a Registry)

Rare disease registries for certain lysosomal storage disorders, including, but not limited to, Fabry, Gaucher, MPS I, and Pompe diseases (each, a Registry)

  • 584 views
  • 23 Nov, 2020
  • 1 location
Featured trial
Eltrombopag for People With Fanconi Anemia

Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly. These people may need blood transfusions for anemia (low red blood cells) or low platelet counts or bleeding. Researchers want to see if a new drug …

anemia
fanconi's anemia
fanconi's syndrome
anemia studies
  • 91 views
  • 22 Dec, 2020
  • 1 location
None
A Trial of Doxycycline vs. Standard Supportive Therapy in Newly-diagnosed Cardiac AL Amyloidosis Patients Undergoing Bortezomib-based Therapy

Systemic amyloidoses are rare diseases affecting approximately 1 in 100,000 persons each year. In systemic amyloidoses abnormal proteins deposit in bodily organs and severely impair their

  • 26 views
  • 28 Jan, 2021
  • 8 locations
None
Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2)

patients below 2 years old could be of value for these patients and prevent the crystal deposit. It is the reason why as part of the Cystadrops pediatric investigational plan (PIP), RECORDATI Rare Diseases

  • 0 views
  • 22 Mar, 2021
  • 1 location
None
Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs

High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic

  • 2 views
  • 25 Jan, 2021
  • 4 locations
None
The Hemophilia Inhibitor Prevention Trial

This is a multi-center randomized phase III clinical trial, the Inhibitor Prevention Trial, in which Eloctate will be compared with Emicizumab, using adaptive design, to prevent inhibitors in patients with severe hemophilia A.

  • 0 views
  • 21 Oct, 2021
  • 3 locations
None
The Hemophilia Inhibitor Eradication Trial

This is a multi-center randomized phase III clinical trial, the Inhibitor Eradication Trial, in which Eloctate ITI plus Emicizumab will be compared with Eloctate ITI alone to eradicate inhibitors in severe hemophilia A.

  • 0 views
  • 13 Nov, 2021
  • 2 locations