Clinical trials: Genetic Diseases
Liver Diseases, Primary Biliary Cirrhosis
Repeatability and Reproducibility of Multiparametric MRI
This study aims to prospectively assess the repeatability and reproducibility of iron-corrected T1 (cT1), T2*, and hepatic proton density fat fraction (PDFF) quantification with multiparametric MRI using the LiverMultiScan™ (LMS…
- Conditions
- Liver Diseases, Primary Biliary Cirrhosis, Non-Alcoholic Fatty Liver Disease, Non-Alcoholic Steatohepatitis
- Trial name
- NCT03743272
- Testing
- LiverMultiScan
- Where
- 4 sites in Netherlands, United Kingdom
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- Perspectum
Metabolic Dysfunction-Associated SteatoHepatitis (MASH)
A Precision Medicine Approach Using Gene Silencing to Treat a Chronic Liver Disease Called Metabolic Dysfunction-Associated Steatohepatitis (MASH) in Adult Participants at Increased Genetic Risk for This Condition
This study is researching an investigational drug, ALN-HSD called "study drug". This study is focused on participants who are known to have Metabolic dysfunction-Associated SteatoHepatitis (MASH).
- Trial name
- NASHGEN-2 (NCT05519475)
- Testing
- ALN-HSD
- Where
- 71 sites in United States, Japan and 2 more
- Volunteers
- 120 people
- Sponsor
- Regeneron Pharmaceuticals
Congenital Myotonic Dystrophy
Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy
This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2/3 study of patients (aged 6 to 16 years) diagnosed with Congenital Myotonic Dystrophy (Congenital DM1).
- Trial name
- NCT03692312
- Testing
- Tideglusib
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 56 people
- Sponsor
- AMO Pharma Limited
Healthy Volunteers
A Study to Determine the Relative Bioavailability of Capsule and Tablet Formulations of GDC-0941 and the Effect of Food and Proton Pump Inhibition on GDC-0941 Tablet Pharmacokinetics in Healthy Volunteers
This is a Phase I, randomized, two-part, single-center pharmacokinetics (PK) study to assess the relative bioavailability of capsule and tablet formulations of GDC-0941 in the fasted state (Part 1) and to determine the effect of…
- Trial name
- NCT00999128
- Testing
- GDC-0941, rabeprazole
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Genentech, Inc.
Friedreich's Ataxia
Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia
The primary purpose of the study is to determine whether carbamylated erythropoietin is a safe treatment for patients who suffer from Friedreich's Ataxia.
- Trial name
- NCT01016366
- Testing
- Lu AA24493
- Where
- 7 sites in Austria, Germany and 1 more
- Volunteers
- 36 people
- Sponsor
- H. Lundbeck A/S
Hereditary Angioedema
C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study)
Hereditary angioedema (HAE) is a rare disorder characterized by congenital lack of functional C1 esterase inhibitor. If not treated adequately, the acute attacks of HAE can be life-threatening and may even result in fatalities…
- Trial name
- NCT00292981
- Testing
- C1 Esterase Inhibitor
- Where
- 14 sites in United States, Canada
- Volunteers
- 57 people
- Sponsor
- CSL Behring
Multicystic Dysplastic Kidney, Polycystic Kidney Disease
Amnioinfusion for Fetal Renal Failure
The goal of this clinical trial is to learn if serial amnioinfusions can improve the chances of survival for fetuses with severe kidney problems that cause low amniotic fluid (anhydramnios).
- Conditions
- Multicystic Dysplastic Kidney, Polycystic Kidney Disease, Fetal Renal Anomaly, Anhydramnios
- Trial name
- NCT06728228
- Testing
- Amnioinfusion
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Fetal Care Center, PLLC
Familial Amyloid Polyneuropathy (FAP)
Study of SOM0226 in Familial Amyloid Polyneuropathy
Clinical proof of concept study to evaluate SOM0226 efficacy in TTR Amyloidosis.
- Trial name
- NCT02191826
- Testing
- SOM0226
- Where
- Spain
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- SOM Innovation Biotech SA
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men
A Study to Learn What Happens to Elinzanetant in the Body When Taken With or Without Carbamazepine, and How Safe it is in Healthy Men and Women Aged 18 to 60 Years.
Researchers are looking for a better way to treat people who have symptoms caused by hormonal changes, such as hot flashes. Before a treatment can be approved for patients to take, researchers do clinical studies to better…
- Trial name
- NCT05028608
- Testing
- Elinzanetant (BAY3427080), Midazolam, Carbamazepine
- Where
- Germany
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Bayer
Acute Gout Flare
Study Utilizing Rilonacept in Gout Exacerbations
This purpose of this clinical research was to determine the efficacy and safety of an experimental drug called Rilonacept in participants with an acute gout attack. Participants participated in this study for 30 days.
- Trial name
- SURGE (NCT00855920)
- Testing
- Rilonacept, Indomethacin
- Where
- 44 sites in United States
- Volunteers
- 225 people
- Sponsor
- Regeneron Pharmaceuticals
Down Syndrome, Cognitive Dysfunction
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 6 To 10
The purpose of this study is to determine the efficacy and safety of donepezil hydrochloride (Aricept) in the treatment of cognitive dysfunction shown by children with Down syndrome, aged 6 to 10 years.
- Trial name
- NCT00754013
- Testing
- Aricept (Donepezil hydrochloride)
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Eisai Inc.
Charcot-Marie-Tooth Disease
Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
This is a multicenter, phase 2 study to evaluate the safety, tolerability, pharmacodynamics (PD), efficacy, and pharmacokinetics (PK) of ACE-083 in patients with Charcot-Marie-Tooth Disease Type 1 and Type X (CMT1 and CMTX), to…
- Trial name
- NCT03124459
- Testing
- ACE-083
- Where
- 16 sites in United States
- Volunteers
- 63 people
- Sponsor
- Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA
ASCVD, Elevated Cholesterol
Trial to Assess the Effect of Long Term Dosing of Inclisiran in Subjects With High CV Risk and Elevated LDL-C
The purpose of this extension study was to evaluate the efficacy, safety, and tolerability of long-term dosing of Inclisiran. The study was a global multicenter study.
- Conditions
- ASCVD, Elevated Cholesterol, Heterozygous Familial Hypercholesterolemia, Homozygous Familial Hypercholesterolemia
- Trial name
- ORION-8 (NCT03814187)
- Testing
- Inclisiran Sodium
- Where
- 238 sites in United States, Canada and 11 more
- Volunteers
- 3,275 people
- Sponsor
- Novartis Pharmaceuticals
Gaucher Disease
A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease
Gaucher disease, the most prevalent lysosomal storage disorder, is caused by mutations in the human glucocerebrosidase gene (GCD) leading to reduced activity of the lysosomal enzyme glucocerebrosidase and thereby to the…
- Trial name
- NCT00376168
- Testing
- Plant cell expressed recombinant glucocerebrosidase (prGCD)
- Where
- 11 sites in United States, Canada and 6 more
- Volunteers
- 32 people
- Sponsor
- Pfizer
Atopic Dermatitis
DMT210 Topical Gel in the Treatment of Atopic Dermatitis
The objective of the study is to evaluate the safety and efficacy of DMT210 Gel, 5% compared to vehicle control following 28 days of twice-daily topical application to selected target lesions in male and female patients with mild…
- Trial name
- NCT02949960
- Testing
- DMT210 Topical Gel, Vehicle Control
- Where
- 2 sites in United States
- Volunteers
- 19 people
- Sponsor
- Dermata Therapeutics
Hereditary Angioedema, Hereditary Angioedema Type I
Study of Oral Deucrictibant Soft Capsule for On-Demand Treatment of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema
This is a Phase 3, multicenter, randomized, double-blind, placebo-controlled, 2-period, 2-treatment cross-over study to evaluate the efficacy and safety of orally administered deucrictibant compared to placebo for the on-demand…
- Conditions
- Hereditary Angioedema, Hereditary Angioedema Type I, Hereditary Angioedema Type II, Hereditary Angioedema Types I and II
- Trial name
- RAPIDe-3 (NCT06343779)
- Where
- 76 sites in United States, Argentina and 27 more
- Volunteers
- 134 people
- Sponsor
- Pharvaris Netherlands B.V.
Recurrent Head and Neck Squamous Cell Carcinoma, Metastatic Head and Neck Squamous Cell Carcinoma
A Phase Ib/II Study of BYL719 and Cetuximab in Recurrent or Metastatic Head and Neck Squamous Cell Carcinoma
This was a multi-center, open-label, Phase Ib dose escalation /Phase II study in recurrent or metastatic head and neck squamous cell carcinoma (RM HNSCC) patients considered to be resistant, ineligible or intolerant to…
- Trial name
- NCT01602315
- Testing
- BYL719 as film-coated (FC) whole tablets, BYL719 as dispersible tablets (DT), cetuximab
- Where
- 29 sites in United States, Australia and 7 more
- Volunteers
- 179 people
- Sponsor
- Novartis Pharmaceuticals
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease
The primary objective of this study was to characterize the pharmacokinetics (PK) of alglucosidase alfa manufactured at the 4000 L scale in participants who had a confirmed diagnosis of Pompe disease.
- Trial name
- PAPAYA (NCT01410890)
- Testing
- alglucosidase alfa
- Where
- 12 sites in United States, Bulgaria and 4 more
- Volunteers
- 21 people
- Sponsor
- Genzyme, a Sanofi Company
Acute Hepatic Porphyria, Hepatic Porphyrias
INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP
This study will use specific diagnostic tests on a group of patients who are experiencing symptoms typical of acute hepatic porphyria (AHP) to determine how many have the condition, and to potentially help improve the diagnostic…
- Conditions
- Acute Hepatic Porphyria, Hepatic Porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP)
- Trial name
- NCT03547297
- Where
- 12 sites in United States
- Volunteers
- 212 people
- Sponsor
- Alnylam Pharmaceuticals
Gout
A Study to Evaluate ALN-XDH in Healthy Subjects and Patients With Gout
The purpose of this study is to: Part A: Evaluate the safety and tolerability of single ascending doses of ALN-XDH in healthy adult participants Part B: Evaluate the safety, tolerability and efficacy of ALN-XDH as monotherapy in…
- Trial name
- NCT05256810
- Testing
- ALN-XDH
- Where
- United Kingdom
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
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