hereditary disease Clinical Research Trials

Please select a valid location from the dropdown

Found 266 clinical trials

Epigenetic Regulation in Fibrous Dysplasia of Bone: mirDYS Study.

Fibrous dysplasia of bone is a rare congenital but non-hereditary disease caused by a post-zygotic activation mutation of the GNAS gene. Patients with fibrous dysplasia may present pain and bone

0 views
01 Feb, 2021
1 location

A Trial of Metformin in Individuals With Fragile X Syndrome (Met)

This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three visits to the study site in a 4-month period for a …

obesity

metformin

problem behavior

8 views
27 Jan, 2021
2 locations

A Trial of Metformin in Individuals With Fragile X Syndrome

obesity

metformin

problem behavior

23 views
24 Jan, 2021
1 location

CF Bronchodilation

It is estimated that one in every 3,600 children in Canada has cystic fibrosis (CF). CF is a genetic disease that affects the glands that produce mucus and sweat. In CF, mucus production

albuterol

fibrosis

genetic disorder

dyspnea

body mass index

3 views
26 Jan, 2021
1 location

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

diflunisal

amyloid protein

pes cavus

amyloidosis

fasting

46 views
04 Mar, 2021
15 locations

Trikafta in Cystic Fibrosis Patients

Cystic Fibrosis (CF) is a life threatening genetic disorder resulting from mutations found in the gene known as the cystic fibrosis transmembrane conductance regulator (CFTR). This clinical

neonatal screening

sweat test

cystic fibrosis transmembrane conductance regulator

pancreatic enzyme

nasal potential difference

0 views
24 Jan, 2021
2 locations

A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

intracisternal/intrathecal infusion of AXO-AAV-GM2 in pediatric participants with GM2 Gangliosidosis (also known as Tay-Sachs or Sandhoff Diseases), a set of rare and fatal pediatric neurodegenerative genetic

0 views
03 Feb, 2021
1 location

Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome

Marfan syndrome (MS) is an autosomal dominant genetic disorder caused by a mutation in the fibrillin-1 gene (FBN1) encoding the protein fibrillin-1. Fibrillin is the main component of

0 views
28 Jan, 2021
1 location

Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia

This is an open-label, non-randomized crossover design feasibility trial comparing oral hydrocortisone treatment with interval bolus delivery (pulsatile) of subcutaneous hydrocortisone via infusion pump in children with congenital adrenal hyperplasia. Eight children, ages 4-18 yrs, will have 24-hr pharmacokinetic and pharmacodynamic profiles of cortisol, 17-hydroxyprogesterone and androstenedione concentrations while on …

glucocorticoid therapy

17-hydroxyprogesterone

epinephrine

androstenedione

classic congenital adrenal hyperplasia

29 views
25 Jan, 2021
1 location

Eltrombopag for People With Fanconi Anemia

Background 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

fanconi syndrome

anemia

genetic disease

androgens

eltrombopag

162 views
27 Jan, 2021
1 location

Filter By

Found 266 clinical trials