Clinical trials: Genetic Diseases, Inborn
- Condition Genetic Diseases, Inborn
- Funder type Industry (pharma, biotech, devices)
- Has posted results yes
Multiple Myeloma
WT1 Vaccine Treatment of Patients With Multiple Myeloma After Autologous Stem Cell Transplantation
The purpose of this trial is to assess the immune response after vaccination with a peptide vaccine called galinpepimut-S (or GPS) in a type of blood cancer called multiple myeloma.
- Trial name
- NCT01827137
- Testing
- Galinpepimut-S, GM-CSF, Montanide
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Sellas Life Sciences Group
Oculopharyngeal Muscular Dystrophy
Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) Patients
The Purpose of this study is to assess the Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Oculopharyngeal Muscular Dystrophy (OPMD) Patients.
- Trial name
- HOPEMD (NCT02015481)
- Testing
- Cabaletta
- Where
- 4 sites in United States, Canada and 1 more
- Volunteers
- 25 people
- Sponsor
- Bioblast Pharma Ltd.
Cardiomyopathy, Dilated
Immunoadsorption Therapy for Patients With Non-Ischemic Dilated Cardiomyopathy (DCM)
The purpose of this study is to evaluate the clinical safety and feasibility of Mysorba in patients with chronic non-ischemic dilated cardiomyopathy (DCM).
- Trial name
- NCT01478087
- Testing
- Mysorba
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Asahi Kasei Medical Co., Ltd.
Severe Hemophilia A
Study to Investigate the Long-term Efficacy and Safety of Human-cl rhFVIII in Previously Treated Patients (PTPs)
The purpose of the study is to study the long-term efficacy, safety and tolerability of Human-cl rhFVIII in previously treated patients with severe hemophilia A.
- Trial name
- NCT01341912
- Testing
- Human-cl rhFVIII
- Where
- 2 sites in United States, Bulgaria
- Volunteers
- 3 people
- Sponsor
- Octapharma
Atopic Dermatitis
To Assess the Safety and Activity of GBR 830, Compared to Placebo, in Adults With Moderate-to-severe Atopic Dermatitis
The purpose of this study is to determine the effect of GBR 830 on biomarkers in atopic dermatitis to enable further studies in this indication.
- Trial name
- NCT02683928
- Testing
- GBR 830
- Where
- 17 sites in United States, Canada
- Volunteers
- 64 people
- Sponsor
- Ichnos Sciences SA
Alpha1-antitrypsin Deficiency
Aralast alpha1-proteinase Inhibitor Surveillance Study
The primary objectives of this Phase 4, open label, prospective U.S. surveillance study are to evaluate the health outcomes of Alpha 1-Antitrypsin (AAT)-deficient subjects who are initiating treatment with ARALAST on…
- Trial name
- NCT00313144
- Testing
- ARALAST Alpha1-Proteinase Inhibitor
- Where
- United States
- Volunteers
- 127 people
- Sponsor
- Baxalta now part of Shire
Hypercholesterolemia, Hyperlipoproteinemia Type II
Safety Study of AEM-28 to Treat Refractory Hypercholesterolemia
The purpose of the first part of this study is to determine the safety and tolerability of a single dose of AEM-28, an apolipoprotein E mimetic, in subjects with high total cholesterol who are otherwise healthy subjects.
- Trial name
- NCT02100839
- Testing
- AEM-28, Normal Saline
- Where
- Australia
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- LipimetiX Development, LLC
Homozygous Familial Hypercholesterolemia
A Study of ALN-PCSSC in Participants With Homozygous Familial Hypercholesterolemia (HoFH)
The purpose of this study is to assess the safety, tolerability, and efficacy of ALN-PCSSC in participants with homozygous familial hypercholesterolemia.
- Trial name
- ORION-2 (NCT02963311)
- Testing
- ALN-PCSSC, Standard of Care
- Where
- 3 sites in United States, Netherlands and 1 more
- Volunteers
- 9 people
- Sponsor
- The Medicines Company
Cystic Fibrosis
Safety and Efficacy Study of Aztreonam for Inhalation Solution (AZLI) in Cystic Fibrosis (CF) Patients With Pseudomonas Aeruginosa (PA)
The purpose of this study was to evaluate the safety and efficacy of multiple courses of AZLI in patients with cystic fibrosis (CF) and lung infection due to Pseudomonas aeruginosa (PA).
- Trial name
- AIR-CF3 (NCT00128492)
- Testing
- AZLI 75 mg two times a day (BID)/ three times a day (TID)
- Where
- 65 sites in United States, Australia and 2 more
- Volunteers
- 274 people
- Sponsor
- Gilead Sciences
Advanced Solid Tumor
Berzosertib Human Mass Balance Study (DDRiver Solid Tumors 208)
The study was conducted in two periods, Period 1 (mass balance) and Period 2 (extension). The purpose of Period 1 of this study was to provide a quantitative characterization of the mass balance, rates and routes of elimination…
- Trial name
- NCT05246111
- Testing
- [14C]Berzosertib, Berzosertib, Topotecan
- Where
- 2 sites in Hungary
- Volunteers
- 6 people
- Sponsor
- Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, Germany
Pseudomonas Aeruginosa Respiratory Tract Infection/Colonization, Cystic Fibrosis
Study of Aztreonam for Inhalation in Children With Cystic Fibrosis and New Infection of the Airways by Pseudomonas Aeruginosa Bacteria
The primary objective of this study is to evaluate the safety and efficacy of a 14-day course versus a 28-day course of aztreonam for inhalation solution (AZLI) in pediatric participants with new onset Pseudomonas aeruginosa…
- Trial name
- ALPINE 2 (NCT03219164)
- Testing
- AZLI
- Where
- 53 sites in United States, Austria and 10 more
- Volunteers
- 149 people
- Sponsor
- Gilead Sciences
Bardet-Biedl Syndrome, POMC Deficiency
Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
A trial to compare the weekly and daily formulations of setmelanotide in participants with genetic defects in the melanocortin-4 receptor pathway.
- Trial name
- NCT05194124
- Testing
- Setmelanotide 2 mg, Setmelanotide 2.5 mg, Setmelanotide 3 mg
- Where
- 7 sites in United States, Canada and 4 more
- Volunteers
- 19 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Wilson Disease
Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
This study is being conducted to evaluate the efficacy, safety, pharmacokinetics (PK), and pharmacodynamics of ALXN1840 versus standard of care in pediatric participants with Wilson disease (WD).
- Trial name
- NCT05047523
- Testing
- ALXN1840, Standard of Care
- Where
- 20 sites in Australia, France and 5 more
- Volunteers
- 40 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Achondroplasia
A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia
The trial is a multicenter, double-blind, randomized, placebo-controlled, dose escalation trial of weekly TransCon CNP administered subcutaneously in prepubertal children 2 to 10 years old, inclusive, with Achondroplasia.
- Trial name
- NCT04085523
- Testing
- TransCon CNP
- Where
- 15 sites in United States, Australia and 6 more
- Volunteers
- 57 people
- Sponsor
- Ascendis Pharma A/S
Skin Laxity
Measuring Renuvion Soft Tissue Contraction Using Ultrasound
This is a prospective, single-center, non-randomized study of up to 5 subjects who are receiving treatment with the Renuvion APR system following power-assisted liposuction in the abdomen per investigator standard of care.
- Trial name
- NCT05968495
- Testing
- Renuvion APR Handpiece
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Apyx Medical
Infections, Streptococcal
Immunization of Children Between 8 Weeks and 2 Years of Age With GSK Pneumococcal Vaccine GSK1024850A
The aim of the study is to evaluate the immunogenicity, safety and reactogenicity of GSK Biologicals' pneumococcal conjugate vaccine GSK1024850A.
- Trial name
- NCT01175083
- Testing
- GSK1024850A (Synflorix), Tritanrix-HepB/Hib, Polio Sabin
- Where
- Burkina Faso
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Gaucher Disease
Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease
This was a multinational, open-label study to assess the safety and efficacy of AVR-RD-02 in approximately 8 to 16 subjects (male or female) who are ≥18 and ≤50 years of age and post pubertal at Screening with a confirmed…
- Trial name
- NCT04145037
- Testing
- AVR-RD-02
- Where
- 5 sites in United States, Canada
- Volunteers
- 8 people
- Sponsor
- AVROBIO
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child
Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
This study will evaluate pediatric patients with malignant or non-malignant blood cell disorders who are having a blood stem cell transplant depleted of T cell receptor (TCR) alfa and beta cells that comes from a partially…
- Conditions
- Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child, Lymphoma, Non-Hodgkin, Myelodysplastic Syndrome
- Trial name
- NCT02065869
- Testing
- BPX-501 T cells, Rimiducid
- Where
- 4 sites in Italy, United Kingdom
- Volunteers
- 187 people
- Sponsor
- Bellicum Pharmaceuticals
Gaucher Disease, Type 1
Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00553631
- Testing
- velaglucerase alfa, imiglucerase
- Where
- 11 sites in United States, Argentina and 7 more
- Volunteers
- 34 people
- Sponsor
- Shire
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