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Found 266 clinical trials
Cascade Genetic Testing of Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a frequent genetic disorder (1/200) associated with an increased risk of early-onset myocardial infarction. To improve detection and treatment of patient

cardiovascular disease
genetic analysis
myocardial infarction
genetic disorder
  • 0 views
  • 25 Jan, 2021
Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis

Hemochromatosis type 1 is one of the most frequent genetic disease since the genetic predisposition (homozygosity for the C282Y mutation of the HFE gene) is encountered in about 3/1000 white

  • 0 views
  • 24 Jan, 2021
  • 1 location
Ghrelin in Cystic Fibrosis

reduce inflammation within the body. Cystic Fibrosis (CF) is a genetic disease which frequently results in recurrent lung infections (leading to progressive inflammatory lung damage) and low

cancer
pulmonary function test
genetic disorder
  • 9 views
  • 07 Nov, 2020
  • 1 location
Anti-FGF23 (Burosumab) in Adult Patients With XLH

X-linked hypophosphatemia (XLH) rare genetic disorder due by inactivating mutations in the PHEX gene leading to increased levels in FGF-23. Elevated FGF-23 reduces renal phosphate reabsorbtion

  • 0 views
  • 27 Jan, 2021
  • 1 location
Coronary Artery Disease in Patients With Friedreich's Ataxia

Friedreich's ataxia is a debilitating, inherited disease cause by mutations in a protein called frataxin (FXN). FXN is one of several proteins that controls the production of iron-sulfur

  • 0 views
  • 22 Feb, 2021
  • 1 location
Vocabulary Intervention for Late Talkers

. In contrast, Late Talkers (children with a language delay in the absence of a physiological, cognitive or genetic disorder that may account for this delay) do not exhibit this preference. It has been

  • 10 views
  • 24 Jan, 2021
  • 1 location
Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 Deficiency

Background -DOCK8 deficiency is a genetic disorder that affects the immune system and can lead to severe recurrent infections and possible death from infections or

  • 1 views
  • 05 Mar, 2021
  • 1 location
Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa

The purpose of this study is to evaluate the effect of L-Dopa on the progression of retinitis pigmentosa.

levodopa
  • 459 views
  • 21 Jan, 2021
  • 1 location
Examining the Effect of Burosumab on Muscle Function

Patients with X-linked hypophosphatemia (XLH) often report symptoms of fatigue and weakness particularly after exertion, in addition to their skeletal complaints. In previous trials using KRN23 (same drug as burosumab/Crysvita), patients report these symptoms improve. The investigators wish to test this hypothesis directly by measuring muscle energy when patients begin …

  • 0 views
  • 29 Jan, 2021
  • 1 location
Rady Children's Institute Genomic Biorepository

provide a mechanism for making a diagnosis of a genetic disease. That is, once genomic sequences have been derived from biological samples, they will be immediately analyzed. If a genetic disease is

  • 0 views
  • 22 Jan, 2021
  • 1 location