Clinical trials: Genetic Diseases
Psoriasis, Atopic Dermatitis
An Exploratory Study to Evaluate a Digital Intervention to Disrupt Scratching in Atopic Dermatitis and Psoriasis
CT-100 is a platform that provides interactive, software based therapeutic components that may be used as part of a treatment in future software-based prescription digital therapeutics.
- Trial name
- NCT06275659
- Testing
- CT-100-004-A, CT-100-004-B
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- Click Therapeutics, Inc.
Phenylketonurias
A 16 Week Study Evaluating the Introduction of a GMP Based Protein Substitute in Participants With PKU
This study aims to measure changes in participants' blood phenylalanine (Phe) levels in participants with PKU when switching from a conventional amino acid based protein substitute to a GMP based protein substitute (PKU Sphere)…
- Trial name
- GMP In PKU (NCT03771391)
- Testing
- PKU Sphere
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- Vitaflo International, Ltd
Lafora Disease
Intravenous VAL-1221 Lafora Expanded Access Protocol
Only qualified physicians treating a Lafora Disease patient may request VAL-1221 Expanded Access treatment under the Parasail Lafora Expanded Access Protocol (LEAP).
- Trial name
- LEAP (NCT05930223)
- Testing
- VAL-1221
- Sponsor
- Parasail, LLC
Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency
An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype
This is a Natural History study to characterize key aspects of the clinical course of late onset Lysosomal Acid Lipase (LAL) Deficiency/ Cholesteryl Ester Storage Disease (CESD).
- Trial name
- NCT01528917
- Where
- 16 sites in United States, Canada and 6 more
- Volunteers
- 49 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Hypercholesterolemia, Hypertriglyceridemia
Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036)
The purpose of this study is to evaluate the cholesterol lowering effectiveness and safety of two investigational drugs in patients with mixed hyperlipidemia (high cholesterol and high triglycerides).
- Trial name
- NCT00092560
- Testing
- MK0653, ezetimibe, Comparator: fenofibrate monotherapy
- Volunteers
- 587 people
- Sponsor
- Organon and Co
Arrhythmogenic Cardiomyopathy, PKP2-ACM
Long-term Follow-up Study of Gene Therapy for Arrhythmogenic Cardiomyopathy Due to a Plakophilin-2 Pathogenic Variant
The primary objective of this Phase 1/2 long-term follow-up (LTFU) study is to assess the long-term safety and tolerability of LX2020 for the treatment of arrhythmogenic cardiomyopathy (ACM) due to a plakophilin-2 gene (PKP2)…
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- GRIT-PKP2 (NCT07050160)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Lexeo Therapeutics
Oculopharyngeal Muscular Dystrophy
Treatment of Oculopharyngeal Muscular Dystrophy With Trehalose
BB-OPMD-202 is a randomized, double-blind, placebo-controlled study of IV trehalose for treatment of OPMD. The study includes a 4-week screening period, a 24-week blinded treatment period during which patients will receive weekly…
- Trial name
- NCT04226924
- Testing
- Trehalose
- Where
- 3 sites in Canada
- Sponsor
- Bioblast Pharma Ltd.
Von Willebrand Disease (VWD)
Post Trial Access Program of TAK-577 for Von Willebrand Disease (VWD)
The post-trial access program allows eligible participants to gain access to unlicensed treatment on compassionate grounds. Recombinant von Willebrand factor (rVWF) also known as TAK-577, is a medicine to help treat Von…
- Trial name
- NCT06173024
- Testing
- TAK-577
- Sponsor
- Takeda
Congenital Bleeding Disorder, Haemophilia A
Safety and Efficacy of Turoctocog Alfa Pegol (N8-GP) in Previously Untreated Patients With Haemophilia A
This trial is conducted globally. The aim of the trial is to investigate the safety and efficacy of turoctocog alfa pegol (N8-GP) in previously untreated patients (PUPs) with haemophilia A.
- Trial name
- pathfinder™6 (NCT02137850)
- Testing
- turoctocog alfa pegol
- Where
- 96 sites in United States, Algeria and 21 more
- Volunteers
- 124 people
- Sponsor
- Novo Nordisk A/S
Achondroplasia
A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Children With Achondroplasia
The purpose of this clinical trial was to evaluate efficacy and safety of once weekly subcutaneous (SC) doses of 100 µg TransCon CNP/kg compared to placebo on Annualized Growth Velocity after a 52-week randomized treatment period…
- Trial name
- ApproaCH (NCT05598320)
- Testing
- Navepegritide (TransCon CNP)
- Where
- 10 sites in United States, Australia and 5 more
- Volunteers
- 84 people
- Sponsor
- Ascendis Pharma Growth Disorders A/S
Wilson's Disease
Phase I/II Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult Patients With Wilson's Disease
This is a multicenter, open-label, single-arm, single-dose Phase I/II clinical study. It aims to evaluate the safety, tolerability, efficacy, immunogenicity, pharmacodynamic (PD) and pharmacokinetic (PK) profiles of LY-M003…
- Trial name
- NCT07641140
- Testing
- LY-M003 Injection
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Lingyi Biotech Co., Ltd.
Alpha-Mannosidosis
Expanded Access to Velmanase Alfa
Individual patient expanded access requests may be considered for patients who have no other treatment options.
- Trial name
- NCT04959240
- Testing
- Velmanase Alfa
- Sponsor
- Chiesi Farmaceutici S.p.A.
Hemophilia B
Safety and Pharmacokinetic Study of a Recombinant Coagulation Factor IX Albumin Fusion Protein in Subjects With Hemophilia B
The primary objective of the study is to assess the safety of IV administration of rIX-FP. Safety will be evaluated by adverse events and laboratory changes over time.
- Trial name
- NCT01233440
- Testing
- Recombinant Coagulation Factor IX Albumin Fusion Protein, Plasma derived FIX [pdFIX]
- Where
- 20 sites in Austria, France and 4 more
- Volunteers
- 25 people
- Sponsor
- CSL Behring
Healthy Volunteers, Atopic Dermatitis
A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome
The study is divided in 3 parts, starting with the safety assessment of BPR277 ointment in Healthy volunteers (Part 1). If found to be well tolerated in Part 1, BPR277 ointment will be assessed in two different patients groups to…
- Conditions
- Healthy Volunteers, Atopic Dermatitis, Netherton Syndrome
- Trial name
- 3 (NCT01428297)
- Testing
- BPR277 ointment (controlled application), BPR277 ointment, BPR277
- Where
- 4 sites in United States, Netherlands
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Novartis Pharmaceuticals
Primary Lateral Sclerosis, Adult, 1
"Individual Patient Expanded Access IND to Treat Primary Lateral Sclerosis"
This Individual Patient Expanded Access IND has been created as requested by an 83-year-old man who suffers Primary Lateral Sclerosis and for which the drugs currently approved are not providing an improvement over the…
- Trial name
- NCT04825613
- Testing
- HB-adMSCs
- Where
- United States
- Sponsor
- Hope Biosciences Research Foundation
Cystic Fibrosis
Evaluation of Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) in Cystic Fibrosis (CF) Participants 12 to Less Than 24 Months of Age
The study evaluates the pharmacokinetics (PK), safety, tolerability, pharmacodynamics (PD), and efficacy of ELX/TEZ/IVA in CF participants 2 to less than (<) 24 months of age.
- Trial name
- NCT05882357
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 19 sites in Australia, Canada and 5 more
- Volunteers
- 67 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Atopic Dermatitis, Atopic Dermatitis Eczema
A Study to Evaluate the Efficacy and Safety of IMG-007 in Adult Participants With Moderate-to-Severe Atopic Dermatitis
The purpose of this study is to evaluate the efficacy and safety of different dose regimens of IMG-007, compared to placebo.
- Conditions
- Atopic Dermatitis, Atopic Dermatitis Eczema, Eczema
- Trial name
- ADAPTIVE (NCT07037901)
- Testing
- IMG-007
- Where
- 30 sites in United States, Australia and 2 more
- Volunteers
- 405 people
- Sponsor
- Inmagene LLC
Thyroid Eye Disease
A Study of AMG 732 in Healthy Participants and Participants With Thyroid Eye Disease
The primary objective of Part A of this study is to investigate the safety and tolerability of AMG 732 after single subcutaneous (SC) doses.
- Trial name
- NCT06401044
- Testing
- AMG 732
- Where
- 44 sites in United States, Australia and 10 more
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Amgen
Atopic Dermatitis
Reconstitution With Pimecrolimus Cream 1% of Steroid-damaged Skin in Adults With Atopic Dermatitis
Topical steroid use may lead to skin deterioration and spider veins. This study will examine long-term management of atopic dermatitis (AD) over 12 months with pimecrolimus cream 1% and its effect on skin reconstitution of…
- Trial name
- NCT00367393
- Testing
- Pimecrolimus cream 1%
- Where
- Germany
- Volunteers
- 41 people
- Sponsor
- Novartis
TOURETTE SYNDROME
A Pilot Study Of SD-809 (Deutetrabenazine) In Moderate To Severe Tourette Syndrome (TS)
The purpose of this study is to evaluate safety, tolerability and preliminary efficacy of SD-809 in the treatment of motor and phonic tics of Tourette Syndrome and to evaluate the pharmacokinetic of SD-809 and its metabolites.
- Trial name
- NCT02674321
- Testing
- SD-809
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Auspex Pharmaceuticals, Inc.
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