Clinical trials: Genetic Diseases
Fragile X Syndrome
A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome
This is a 2-part study, with each part having a unique set of objectives for male adolescents aged 9 to < 18 years with fragile X syndrome (FXS).
- Trial name
- NCT05163808
- Testing
- zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 163 people
- Sponsor
- Tetra Discovery Partners
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Phenylketonuria
GMP Drink for PKU Study
This study will evaluate the safety, gastrointestinal (GI) tolerance, acceptability and compliance of a Glycomacropeptide-based protein substitute for patients with Phenylketonuria (PKU).
- Trial name
- NCT02915510
- Testing
- Glycomacropeptide-based protein substitute
- Where
- 5 sites in United Kingdom
- Volunteers
- 40 people
- Sponsor
- Nutricia UK Ltd
Healthy Volunteers, Polycystic Kidney, Autosomal Dominant
Effect of Venglustat in Patients With Renal Impairment
Primary Objective: To study the effect of mild, moderate and severe renal impairment on the pharmacokinetics (PK) of Venglustat following a single dose.
- Trial name
- NCT03687554
- Testing
- Venglustat GZ/SAR402671
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Bardet Biedl Syndrome (BBS), Alström Syndrome (AS)
Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
This pivotal, phase 3 study is designed to confirm the efficacy and safety of setmelanotide, a potent melanocortin receptor type 4 (MC4R) agonist, for the treatment of obesity and hyperphagia in participants with Bardet Biedl…
- Trial name
- NCT03746522
- Testing
- Setmelanotide
- Where
- 12 sites in United States, Canada and 4 more
- Volunteers
- 52 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Skin Alterations Associated With Atopic Dermatitis
Sertaconazole 2% Cream to Improve Symptoms Associated With Atopic Dermatitis
Investigation aimed to explore the efficacy of a topical Sertaconazole cream 2% in patients with skin alterations associated with atopic dermatitis
- Trial name
- NCT01792713
- Testing
- Sertaconazole 2% cream
- Where
- 2 sites in Germany
- Volunteers
- 70 people
- Sponsor
- Spirig Pharma Ltd.
Infertility of Uterine Origin
Clinical Study of PGT-A Versus PGT-A+ERA
Patients who have shown previous implantation failures, despite transferring good quality and chromosomally normal embryos (diagnosed by PGT-A), could have a displaced Window of Implantation (WOI) and consequently, alterations in…
- Trial name
- PGT-A&ERA (NCT03530254)
- Testing
- PGT-A, ERA Test
- Where
- 15 sites in United States, Argentina and 10 more
- Volunteers
- 368 people
- Sponsor
- Igenomix
Cystic Fibrosis
Study of GLPG1837 in Subjects With Cystic Fibrosis (G551D Mutation)
32 cystic fibrosis patients with the G551D mutation will be treated for 4 weeks, consisting of three consecutive treatment periods: two 1-week periods followed by one 2-week period, evaluating one dose of GLPG1837 each.
- Trial name
- SAPHIRA1 (NCT02707562)
- Testing
- GLPG1837 dose 1, GLPG1837 dose 2, GLPG1837 dose 3
- Where
- 16 sites in Australia, Czechia and 3 more
- Volunteers
- 26 people
- Sponsor
- Lakefront Biotherapeutics NV
Cancer, Breakthrough Pain
Efficacy/Safety Study of ACTIQ® for Opioid-Tolerant Children and Adolescents With Breakthrough Pain (BTP)
The primary objective of the study is to evaluate the efficacy of ACTIQ treatment for the management of breakthrough pain (BTP) compared to placebo treatment in children with cancer and non-cancer pain who are receiving…
- Trial name
- NCT00236041
- Testing
- ACTIQ®
- Where
- 31 sites in United States, Puerto Rico
- Volunteers
- 38 people
- Sponsor
- Cephalon
Neuroblastoma, Ewing's Sarcoma
Use of Racotumomab in Patients With Pediatric Tumors Expressing N-glycolylated Gangliosides
This study will be carried out in children with diagnosis of cancer with tumors known to express N-glycolylated gangliosides. The disease must be resistant to conventional therapy.
- Conditions
- Neuroblastoma, Ewing's Sarcoma, Wilm's Tumor, Retinoblastoma
- Trial name
- NCT01598454
- Testing
- racotumomab
- Where
- Argentina
- Volunteers
- 15 people
- Sponsor
- Laboratorio Elea Phoenix S.A.
Advanced Solid Tumor, Head and Neck Squamous Cell Carcinoma
A Study of [225Ac]-FPI-1966 in Participants With Advanced Solid Tumours
This first-in-human study evaluates safety, tolerability and distribution of [225Ac] FPI-1966, [111In]-FPI-1967, and vofatamab in patients with FGFR3-expressing solid tumors.
- Conditions
- Advanced Solid Tumor, Head and Neck Squamous Cell Carcinoma, Bladder Carcinoma, Susceptible FGFR3 Genetic Alterations
- Trial name
- NCT05363605
- Testing
- [225Ac]-FPI-1966, [111In]-FPI-1967, vofatamab
- Where
- 6 sites in United States, Australia
- Volunteers
- 6 people
- Sponsor
- Fusion Pharmaceuticals Inc.
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Healthy Volunteer, Muscular Dystrophies
Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
This is a Phase 1 2-part, single-center, open-label study in healthy male volunteers. Part A will assess the absorption, metabolism, excretion, and pharmacokinetics of one oral dose of radiolabeled EDG-5506.
- Conditions
- Healthy Volunteer, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT05730842
- Testing
- EDG-5506 Tablet, Radiolabeled EDG-5506 Suspension, Radiolabeled EDG-5506 Intravenous
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Edgewise Therapeutics, Inc.
Primary Hyperoxaluria
Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria
This is a double-blind, placebo-controlled, dose escalation trial of DCR-PHXC in Healthy Volunteers (HVs) and patients with Primary Hyperoxaluria (PH).
- Trial name
- NCT03392896
- Testing
- DCR-PHXC
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Mucopolysaccharidosis IH
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
This is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of…
- Trial name
- TigetT10_MPSIH (NCT03488394)
- Testing
- Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LVV, encoding for the α-L-iduronidase cDNA, in their final formulation medium.
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Orchard Therapeutics
Gout
MPC-004 for the Treatment of an Acute Gout Flare
This study is a multicenter, randomized, double-blind, placebo-controlled, parallel group, dose-comparison to determine the efficacy and safety of a standard-dose of colchicine (4.8 mg) versus low-dose colchicine (1.8 mg) or…
- Trial name
- AGREE (NCT00506883)
- Testing
- High Dose Colchicine (4.8 mg total dose), Low Dose Colchicine (1.8mg total dose)
- Where
- 83 sites in United States
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- Takeda
Aggressive Behavior in Fragile X Syndome
Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome
The goal of this clinical trial is to learn if drug SRX246 works to treat irritability, agitation, aggression and self-injury (IAAS) behaviors in adult males with Fragile X Syndrome (FXS).
- Trial name
- NCT07328529
- Testing
- SRX246
- Where
- 3 sites in United States
- Volunteers
- 80 people
- Sponsor
- Azevan Pharmaceuticals
Dyslipidemias, High Cholesterol
Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies
This study will be a placebo-controlled, double-blind, randomized, phase 3 study in participants with underlying heterozygous familial hypercholesterolemia (HeFH) and/or ASCVD to evaluate the efficacy, safety, and tolerability of…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROADWAY (NCT05142722)
- Testing
- Obicetrapib
- Where
- 181 sites in United States, China and 6 more
- Volunteers
- 2,530 people
- Sponsor
- NewAmsterdam Pharma
Eye Diseases, Macular Degeneration
Study Evaluating the Safety, Pharmacokinetics and Pharmacodynamics of OPT-302 With or Without Lucentis™ in Patients With Wet AMD
The purpose of this first-in-human study is to evaluate the safety, pharmacokinetics (PK) and pharmacodynamics of OPT-302 administered as monthly intravitreal injections for 3 months with and without Lucentis™ in patients with…
- Conditions
- Eye Diseases, Macular Degeneration, Retinal Diseases, Retinal Degeneration
- Trial name
- NCT02543229
- Testing
- OPT-302, Lucentis™
- Where
- 14 sites in United States
- Volunteers
- 51 people
- Sponsor
- Opthea Limited
Tetrahydrobiopterin Deficiency
Retrospective Observational Safety Effectiveness With Kuvan in hpA
A retrospective study to collect the effectiveness and safety data of the past treatment with KUVAN in Chinese patients with HPA caused by BH4 deficiency.
- Trial name
- ROSEKA (NCT03864029)
- Testing
- KUVAN
- Where
- China
- Volunteers
- 26 people
- Sponsor
- BioMarin Pharmaceutical
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