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Found 106 clinical trials
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology

Familial amyloid neuropathy due to transthyretin gene mutations (TTR-FAP) is a rare autosomal dominant inherited disease resulting in the abnormal multi-system deposition of amyloid proteins

amyloid protein
autosomal dominant
pes cavus
  • 24 Jan, 2021
  • 15 locations
Study of BDNF Pathway Biomarkers in the Cerebrospinal Fluid in Patients With Huntington's Disease

Huntington disease (HD, 1.3/10 000) is an autosomal dominant disease due to an abnormal expansion of CAG triplets in HTT gene. Several pathophysiological mechanisms have been evoked

autosomal dominant
htt gene
  • 28 Jan, 2021
  • 1 location
Genetic Testing and Motivational Counseling for FH

To date, there are highly effective lipid-lowering drugs, the combination of which makes it possible to achieve the target level of LDL-C in most patients with familial hypercholesterolemia (FH). However, the effectiveness of treatment of FH patients strongly depends on adherence to lipid-lowering therapy and to the healthy lifestyle, as …

  • 26 Jan, 2021
  • 1 location
Pegintron to Treat Plexiform Neurofibromas in Children and Young Adults

Background: Neurofibromatosis 1 (NF1) is a common autosomal dominant neurogenetic disorder characterized by diverse cutaneous, neurological, skeletal and neoplastic manifestations

  • 07 Nov, 2020
  • 1 location
Effect of MYODM on Quality of Life Fatigue and Hypersomnia in Patients With Myotonic Dystrophy Type 1

The purpose of this study is to determine whether MYODM (formulated composition containing Theobroma cacao supplemented with caffeine (caffeine/theobromine ratio1/1.85, w/w) is effective in the treatment of excessive daytime sleepiness due to myotonic dystrophy type 1 (DM1) and improves the quality of life of these patients.

  • 27 Jan, 2021
  • 1 location
First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas

The purpose of this study is to determine whether multiple cutaneous neurofibromas in patients with neurofibromatosis type 1 can be removed with an erbium-YAG-laser.

  • 07 Nov, 2020
Interventions for Reading Disabilities in NF1

Neurofibromatosis Type 1 (NF1) is a common genetic disorder that is associated with a four times greater risk of learning disabilities, including reading disabilities, and a deficiency of neurofibromin - a protein important in a signaling pathway that regulates learning and memory. Our previous work (NS49096) demonstrated that school-age children …

metabolic syndrome x
attention deficit hyperactivity disorder
kidney failure
psychiatric disorder
hearing impairment
  • 27 Jan, 2021
  • 1 location
Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome

This study evaluate the efficacy of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-COA) reductase inhibitors, also known as "statins" in the treatment of growth and skeletal abnormalities in children with Noonan syndrome. Half of patients will receive simvastatin while the other half will receive a placebo.

  • 26 Jan, 2021
  • 20 locations
Rapamycin Treatment for Activated Phosphoinositide 3-Kinase Syndrome

The purpose of this proposed research is to evaluate the efficacy and safety of the rapamycin therapy in patients with activated phosphoinositide 3-kinase syndrome (APDS).

  • 23 Jan, 2021
  • 1 location
Intermittent Dosing Of Selumetinib In Childhood NF1 Associated Tumours

Phase I and II study of the MEK inhibitor Selumetinib given twice daily on 5 out of 7 days in children with NF1 and inoperable plexiform neurofibromas or progressive/relapsed optic pathway gliomas. This study will test the early and late toxicities of selumetinib when it is given in this intermittent …

  • 26 Jan, 2021
  • 2 locations