Clinical trials: Genetic Disorders
Epilepsy
Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies
To evaluate the efficacy of open-label ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutation and other rare genetic epilepsies in an open-label proof-of-concept study.
- Trial name
- NCT02358538
- Testing
- Ganaxolone
- Where
- 10 sites in United States, Italy
- Volunteers
- 30 people
- Sponsor
- Marinus Pharmaceuticals
Thalassemia
A Study to Determine the Efficacy and Safety of Luspatercept in Adults With Non Transfusion Dependent Beta (β)-Thalassemia
This is a Phase 2, double-blind, randomized, placebo-controlled, multicenter study to determine the efficacy and safety of luspatercept (ACE-536) versus placebo in adults with non-transfusion dependent beta (β)-thalassemia.
- Trial name
- BEYOND (NCT03342404)
- Testing
- Luspatercept, Best Supportive Care (BSC)
- Where
- 16 sites in United States, Greece and 4 more
- Volunteers
- 145 people
- Sponsor
- Celgene
Immune System Diseases
Zoster Vaccine Response in the Frail Elderly
This study is being done to evaluate the zoster vaccine response in the nursing home elderly (80 years or older). As the immune system ages, the response to vaccines is not always as strong as in younger people.
- Trial name
- NCT01328548
- Testing
- Zostavax
- Where
- Canada
- Volunteers
- 241 people, healthy volunteers welcome
- Sponsor
- McMaster University
Plexiform Neurofibroma, Neurofibromatosis Type 1 (NF1)
MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas
This study evaluates mirdametinib (PD-0325901) in the treatment of symptomatic inoperable neurofibromatosis type-1 (NF1)-associated plexiform neurofibromas (PNs). All participants will receive mirdametinib (PD-0325901).
- Trial name
- ReNeu (NCT03962543)
- Testing
- Mirdametinib (PD-0325901) oral capsule or dispersible tablet
- Where
- 43 sites in United States
- Volunteers
- 114 people
- Sponsor
- SpringWorks Therapeutics, Inc., a healthcare company of Merck KGaA, Darmstadt, Germany
Fabry Disease
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
This is an open-label extension study intended to provide continued treatment with migalastat hydrochloride (HCl) for participants with Fabry disease who completed treatment of a previous migalastat HCl study.
- Trial name
- NCT02194985
- Testing
- migalastat HCl 150 mg
- Where
- 28 sites in United States, Argentina and 13 more
- Volunteers
- 84 people
- Sponsor
- Amicus Therapeutics
Phenylketonurias
Evaluation of Phe Fluctuation in PKU Pts Treated With PKU GOLIKE Versus Standard Amino Acid Protein Substitute.
This is a 2 arm, randomised, controlled, cross-over study in 16 children with PKU. Subjects who are currently taking a Phe free/low Phe protein substitute will be recruited for a 31-day trial.
- Trial name
- NCT05487378
- Testing
- PKU GOLIKE
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- APR Applied Pharma Research s.a.
Atopic Dermatitis
Evaluation of Upadacitinib in Adolescent and Adult Patients With Moderate to Severe Atopic Dermatitis (Eczema)
The objective of this study is to assess the efficacy and safety of upadacitinib for the treatment of adolescent and adult participants with moderate to severe atopic dermatitis (AD) who are candidates for systemic therapy.
- Trial name
- Measure Up 1 (NCT03569293)
- Testing
- Upadacitinib
- Where
- 180 sites in United States, Argentina and 23 more
- Volunteers
- 912 people
- Sponsor
- AbbVie
Hemophilia A
A Study of TAK-660 in Surgical Procedures for People With Hemophilia A.
This study is about a factor VIII medicine called Adynovate (TAK-660) used during surgery for people with hemophilia A who have low blood levels of factor VIII.
- Trial name
- NCT04941898
- Testing
- PEGylated Recombinant Factor VIII
- Where
- Japan
- Volunteers
- 16 people
- Sponsor
- Takeda
Exocrine Pancreatic Insufficiency, Cystic Fibrosis
SOLUTION: Study of Oral Liprotamase Unit-Matched Therapy Of Non-Porcine Origin in Patients With Cystic Fibrosis
Liprotamase powder is a non-porcine, soluble and stable mixture of three digestive enzymes including lipase, protease, and amylase.
- Trial name
- NCT02279498
- Testing
- Liprotamase, porcine (pig) PERT
- Where
- 54 sites in United States, Canada and 5 more
- Volunteers
- 128 people
- Sponsor
- Anthera Pharmaceuticals
Anemia, Sickle Cell
Effectiveness of Arginine as a Treatment for Sickle Cell Anemia
Sickle cell disease (SCD), also known as sickle cell anemia, is an inherited genetic disease that can cause intense pain episodes.
- Trial name
- Arginine (NCT00513617)
- Testing
- Arginine
- Where
- 17 sites in United States
- Volunteers
- 128 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Atopic Dermatitis
Study to Assess the Safety of Dupilumab (REGN668/SAR231893) Administered Concomitantly With Topical Corticosteroids (TCS) in Patients With Moderate-to-severe Atopic Dermatitis (AD)
The purpose of this study was to assess the safety of Dupilumab administered concomitantly with topical corticosteroids (TCS) in patients with moderate-to-severe atopic dermatitis (AD).
- Trial name
- NCT01639040
- Testing
- Dupilumab, Topical Corticosteroid (TCS)
- Where
- 13 sites in Germany, Hungary and 1 more
- Volunteers
- 31 people
- Sponsor
- Regeneron Pharmaceuticals
Hereditary Angioedema (HAE)
Open-label, Single-arm Study to Assess the Pharmacokinetics, Safety, and Tolerability of a Single Subcutaneous Dose of Icatibant in Healthy Japanese Volunteers
This is a single-dose study to evaluate the pharmacokinetics, safety, and tolerability of icatibant administered to adult Japanese subjects.
- Trial name
- NCT02045264
- Testing
- Icatibant (30 mg)
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Shire
Autosomal Dominant Polycystic Kidney Disease
A Study to Evaluate the Effects of GLPG2737 in Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
This is an exploratory, randomized, double-blind, placebo-controlled, parallel group, multicenter, proof of concept study (Phase 2a), evaluating orally administered GLPG2737 for a double-blind (DB) treatment period of 52 weeks…
- Trial name
- NCT04578548
- Testing
- GLPG2737
- Where
- 20 sites in Belgium, Czechia and 5 more
- Volunteers
- 66 people
- Sponsor
- Lakefront Biotherapeutics NV
Down Syndrome, Physical Inactivity
Decreasing Alzheimer's Risk Through oNline Choreographed Exercise - Down Syndrome
The investigators are assessing acceptability, appropriateness, and feasibility of an remote choreographed exercise intervention using validated scales alongside qualitative data among young adults with Down Syndrome.
- Trial name
- DANCE-DS (NCT06537648)
- Testing
- Decreasing Alzheimer's Risk Through oNline Choreographed Exercise - Down Syndrome Program
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Kansas Medical Center
Atopic Dermatitis
A Study to Assess the Efficacy and Safety of Dupilumab in Participants With Severe Atopic Dermatitis (AD) That Are Not Controlled With Oral Cyclosporine A (CSA) or for Those Who Cannot Take Oral CSA Because it is Not Medically Advisable
The main objective of the trial is to evaluate the efficacy of 2 dose regimens of dupilumab compared to placebo, administered with concomitant topical corticosteroids (TCS), in adult patients with severe AD who are not adequately…
- Trial name
- NCT02755649
- Testing
- Dupilumab
- Where
- 73 sites in Austria, Belgium and 8 more
- Volunteers
- 325 people
- Sponsor
- Regeneron Pharmaceuticals
Hypophosphatasia (HPP)
A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)
This study aims to characterize the natural history of patients with severe perinatal or infantile onset HPP.
- Trial name
- NCT01419028
- Where
- 12 sites in United States, Australia and 5 more
- Volunteers
- 48 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Polycystic Kidney, Autosomal Dominant
Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
The purpose of this study is to determine whether the medication pravastatin will ameliorate renal and cardiovascular disease over a 3-year period in children and young adults with autosomal dominant polycystic kidney disease…
- Trial name
- NCT00456365
- Testing
- pravastatin
- Where
- United States
- Volunteers
- 110 people
- Sponsor
- University of Colorado, Denver
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Primary Immune Deficiency Disorder
Pharmacokinetics, Efficacy, and Safety Study of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD)
This is a Phase III, multicenter, open-label study of RI-002 administered as an intravenous infusion of RI-002 (IGIV) every 21 or 28 days in approximately 60 subjects with Primary Immunodeficiency Diseases (PIDD).
- Trial name
- NCT01814800
- Testing
- RI-002
- Where
- 9 sites in United States
- Volunteers
- 59 people
- Sponsor
- ADMA Biologics, Inc.
Skin Laxity, Wrinkles
A Retrospective Study to Evaluate the Effectiveness of the Ulthera System
Up to 120 subjects within the study site's practice who have already had an Ultherapy™ treatment to the face and neck will be enrolled to monitor treatment effectiveness.
- Trial name
- NCT01519934
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Ulthera, Inc