Clinical trials: Congenital Disorder
Pmm2-CDG, Phosphomannomutase 2 Deficiency
24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants With PMM2-CDG
This is a Phase 2, randomized, open-label, 24-week treatment study to evaluate the potential pharmacodynamic (PD) activity, safety, tolerability, and pharmacokinetics (PK) of GLM101 in adult, adolescent, and pediatric, patients…
- Trial name
- NCT05549219
- Testing
- GLM101
- Where
- 4 sites in United States, Spain and 1 more
- Volunteers
- 27 people
- Sponsor
- Glycomine, Inc.
Pmm2-CDG, Phosphomannomutase 2 Deficiency
Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG
This is a prospective, single-center, randomized, double-blind, placebo-controlled study designed to assess the safety, tolerability, and clinical and metabolic improvement of pediatric subjects with PMM2-CDG on oral epalrestat…
- Conditions
- Pmm2-CDG, Phosphomannomutase 2 Deficiency, Phosphomannomutase 2 Congenital Disorder of Glycosylation, Phosphomannomutase II Congenital Disorder of Glycosylation
- Trial name
- NCT04925960
- Testing
- Epalrestat
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- Maggie's Pearl, LLC
Congenital Bleeding Disorder, Congenital FXIII Deficiency
A Study of Safety and Effectiveness of NovoThirteen® (rFXIII) During Treatment of Congenital FXIII Deficiency in Japan
This study is conducted in Asia. Tha aim of this study is to investigate Safety and Effectiveness of NovoThirteen® (rFXIII) during treatment of congenital FXIII deficiency in Japan.
- Trial name
- NCT02670213
- Testing
- recombinant factor XIII
- Where
- 8 sites in Japan
- Volunteers
- 8 people
- Sponsor
- Novo Nordisk A/S
Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene
A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations
This is an observational study to examine the characteristics of gene-related hearing loss in pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, or Digenic GJB2/Gap Junction…
- Conditions
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
- Trial name
- ENSEMBLE (NCT06019481)
- Where
- 2 sites in United States
- Sponsor
- Regeneron Pharmaceuticals
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)
The purpose of this study is to evaluate the efficacy safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene with…
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05176717
- Testing
- QR-421a
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 5 people
- Sponsor
- Laboratoires Thea
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05158296
- Testing
- Ultevursen
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 7 people
- Sponsor
- Laboratoires Thea
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
Infectious Disease, Neoplasms
AnovaOS Network Powered Patient Registry
The objective of this study is the development, implementation and management of a registry of patient data that captures clinically meaningful, real-world, data on the diagnosis, nature, course of infection, treatment(s) and…
- Conditions
- Infectious Disease, Neoplasms, Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism (D50-D89), Endocrine, Nutritional and Metabolic Diseases (E00-E89)
- Trial name
- NCT05013944
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Anova Enterprises, Inc
Congenital Bleeding Disorder, Haemophilia A With Inhibitors
Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery
This trial is conducted in North America. The aim of this trial is to compare the safety and efficacy of activated recombinant human factor VII in patients with haemophilia A or B undergoing major surgical procedures.
- Conditions
- Congenital Bleeding Disorder, Haemophilia A With Inhibitors, Haemophilia B With Inhibitors
- Trial name
- NCT01561391
- Testing
- activated recombinant human factor VII, factor IX, factor VIII
- Where
- 14 sites in United States
- Volunteers
- 36 people
- Sponsor
- Novo Nordisk A/S
Congenital Bleeding Disorder, Haemophilia A With Inhibitors
A Long-term Assessment of Physical Activity, Range of Motion, and Functional Status Following Elective Orthopedic Surgery in Hemophilia Patients With Inhibitors
This study is conducted in the United States of America (USA). The aim of this study is to assess the long-term (5+ years) postoperative functional outcomes of elective orthopaedic surgery (EOS) patients from previously reported…
- Conditions
- Congenital Bleeding Disorder, Haemophilia A With Inhibitors, Haemophilia B With Inhibitors
- Trial name
- NCT01830712
- Testing
- eptacog alfa (activated)
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Novo Nordisk A/S
Esophageal Atresia, Digestive System Abnormalities
Flourish™ Pediatric Esophageal Atresia
This study is continued evaluation of the safety and probable benefit of the Flourish Pediatric Esophageal Atresia device through the Humanitarian Device Exemption (HDE) pathway.
- Conditions
- Esophageal Atresia, Digestive System Abnormalities, Esophageal Disorders Congenital
- Trial name
- NCT03615495
- Testing
- Flourish Pediatric Esphogeal Atresia device
- Where
- 12 sites in United States, Canada
- Volunteers
- 21 people
- Sponsor
- Cook Research Incorporated
Cardiac Disease, Respiratory Disease
Clinical Use Cases Assessment of the Gabi System in Young Children With Underlying Medical Conditions (BRIDGE Study)
Subjects will use the Gabi system on a daily basis for 3 months, each time the subject is resting or asleep. The Gabi system will recording the SpO2, pulse rate, respiratory rate and movements of the subject.
- Conditions
- Cardiac Disease, Respiratory Disease, Congenital Cardiac Defect, Cardiovascular Diseases
- Trial name
- BRIDGE (NCT05319236)
- Testing
- Gabi System
- Where
- 4 sites in United States, Belgium
- Volunteers
- 101 people
- Sponsor
- Gabi SmartCare
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Congenital Bleeding Disorder, Haemophilia B
A Trial Comparing Nonacog Beta Pegol (N9-GP) and ALPROLIX® in Patients With Haemophilia B
This trial is conducted in Europe and the United States of America. The aim of this trial is to compare the pharmacokinetics (the exposure of the trial drug in the body) of nonacog beta pegol (N9-GP) and ALPROLIX® in patients…
- Trial name
- paradigm™7 (NCT03075670)
- Testing
- N9-GP, ALPROLIX®
- Where
- 12 sites in United States, Germany and 1 more
- Volunteers
- 15 people
- Sponsor
- Novo Nordisk A/S
Congenital Bleeding Disorder, Haemophilia A
A Research Study Looking at How a Factor VIII Medicine Called Turoctocog Alfa Pegol (N8-GP) Works in People With Haemophilia A
This study will look at how a known study medicine N8-GP works in previously N8-GP treated people with haemophilia A. The aim is to look at how N8-GP works during regular use. Participants will get N8-GP.
- Trial name
- pathfinder8 (NCT03528551)
- Testing
- Turoctocog alfa pegol
- Where
- 67 sites in United States, Australia and 24 more
- Volunteers
- 160 people
- Sponsor
- Novo Nordisk A/S
Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies
Single Ascending Dose Study in Participants With LCA10
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound…
- Conditions
- Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies, Eye Diseases, Hereditary, Retinal Disease
- Trial name
- NCT03872479
- Testing
- EDIT-101
- Where
- 5 sites in United States
- Volunteers
- 34 people
- Sponsor
- Editas Medicine, Inc.
Blindness, Leber Congenital Amaurosis 10
Natural History Study of CEP290-Related Retinal Degeneration
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related…
- Conditions
- Blindness, Leber Congenital Amaurosis 10, Vision Disorders, Eye Diseases
- Trial name
- NCT03396042
- Where
- 7 sites in United States, France and 2 more
- Volunteers
- 26 people
- Sponsor
- Editas Medicine, Inc.