Clinical trials: Genetics
Leber's Hereditary Optic Neuropathy (LHON)
Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy
The objective of this clinical study is to select the optimal dose and evaluate the safety and efficacy of NR082 in treatment of LHON caused by mitochondrial ND4 gene mutation.
- Trial name
- GOLD (NCT04912843)
- Testing
- NR082 injection
- Where
- China
- Volunteers
- 102 people
- Sponsor
- Wuhan Neurophth Biotechnology Limited Company
Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
- Trial name
- FLY (NCT06328608)
- Testing
- PRX-102 1 mg/kg every two weeks
- Where
- 12 sites in United States, Austria and 4 more
- Volunteers
- 22 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Familial Dementia With Neuroserpin Inclusion Bodies, Nervous System Heredodegenerative Disorder
Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
The purpose of this study is to learn more about the medical problems and the genetic factors involved in a recently defined form of inherited dementia called "familial dementia with neuroserpin inclusion bodies (FDNIB)."…
- Trial name
- NCT00006176
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis
Omega 3 Supplementation in Cystic Fibrosis Patients
Essential fatty acids (EFA) deficiency has been often reported in patients with cystic fibrosis (CF), particularly in those homozygous for the DF508 mutation.
- Trial name
- NCT00959010
- Testing
- omega-3 triglycerides
- Where
- Belgium
- Volunteers
- 15 people
- Sponsor
- Queen Fabiola Children's University Hospital
Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor
Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Bone marrow transplantation may allow doctors to give higher doses of chemotherapy and kill more tumor cells.
- Conditions
- Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor, Head and Neck Cancer, Kidney Cancer
- Trial name
- NCT00002515
- Testing
- filgrastim, carboplatin, thiotepa
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
Sickle Cell Disease, Hemoglobinopathies
Non-Myeloablative Conditioning and Bone Marrow Transplantation
Allogeneic blood or marrow transplantation (alloBMT) is a curative therapy for a variety of hematologic disorders, including sickle cell disease and thalassemia.
- Trial name
- NCT01850108
- Testing
- Thymoglobulin, Fludarabine, Cyclophosphamide (CTX)
- Where
- 3 sites in United States, France and 1 more
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Vanderbilt-Ingram Cancer Center
Gaucher Disease
Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
- Trial name
- NCT06523517
- Testing
- Eliglustat Tartrate Capsules
- Where
- China
- Volunteers
- 5 people
- Sponsor
- Peking Union Medical College Hospital
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Ehler's Danlos Syndrome, Obstructive Sleep Apnea
Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
- Trial name
- NCT02712060
- Testing
- No intervention
- Where
- Switzerland
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene.
- Conditions
- Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease, Hypercalcemia, Idiopathic, of Infancy, Hypercalciuric Hypercalcemia
- Trial name
- RICHH (NCT03301038)
- Testing
- Rifampin
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Wilms Tumor, Relapse
The Use of Immunohistochemical Staining for the Prediction of Wilms Tumour Progression and Recurrence
Wilms' tumour staging and grading are used to give an idea about the prognosis. Advanced staging, diffuse anaplasia, predominant blastemal elements and lymph node invasion are indicators of poor prognosis.
- Conditions
- Wilms Tumor, Relapse, Death
- Trial name
- NCT04758455
- Testing
- P53, Ki67 and Cyclin A IHC.
- Where
- Egypt
- Volunteers
- 75 people
- Sponsor
- Mansoura University
Cystic Fibrosis, Bronchiectasis
Adherence to Airway Clearance. Novel Approaches to Improving Adherence
An airway clearance technique (ACT) is one of the core treatments for children with chronic lung diseases who are unable to clear their secretions effectively.
- Trial name
- NCT02906826
- Testing
- Video game
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- University of British Columbia
Beta-Thalassemia
Adherence of Beta Thalssemia Patients to Oral Chelation Therapy
The β-thalassemias are a group of inherited disorders of hemoglobin (Hb) synthesis characterized by chronic anemia of varying severity.
- Trial name
- NCT06568926
- Testing
- Serum Ferritin level
- Where
- Egypt
- Volunteers
- 200 people
- Sponsor
- Sohag University
Primary Immunodeficiency Disease
An Extension Study of TAK-664 for Japanese People With Primary Immunodeficiency Disease
This study is an extension study for participants with primary immunodeficiency disorders who were previously treated with IGSC, 20% in the TAK-664-3001 study.
- Trial name
- NCT04842643
- Testing
- IGSC 20% infusion
- Where
- 8 sites in Japan
- Volunteers
- 12 people
- Sponsor
- Takeda
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
Sickle Cell Disease (SCD)
Pharmacokinetics and Pharmacodynamics Study of SEG101 (Crizanlizumab) in Sickle Cell Disease (SCD) Patients With Vaso- Occlusive Crisis (VOC)
The purpose of the CSEG101A2202 study was to characterize the Pharmacokinetic (PK) and Pharmacodynamic (PD) of SEG101/crizanlizumab and to evaluate the safety and efficacy of SEG101/crizanlizumab in sickle cell disease (SCD)…
- Trial name
- NCT03264989
- Testing
- crizanlizumab
- Where
- 12 sites in United States
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Cystinosis
Development of Health-related Quality of Life Instrument for Patients With Cystinosis
Cystinosis is a rare congenital, inherited metabolic disorder that results in the storage of cystine in the cells of many organs of the body.
- Trial name
- QUALIFY (NCT05959668)
- Where
- Germany
- Volunteers
- 300 people
- Sponsor
- Cystinose Stiftung
Pompe Disease
Alglucosidase Alfa Pompe Safety Sub-Registry
To collect uniform and meaningful data on patients with Pompe disease who experience anaphylaxis, severe allergic reactions, and/or signals of severe cutaneous and/or systemic immune complex-mediated reactions following treatment…
- Trial name
- NCT01710813
- Testing
- alglucosidase alfa
- Where
- 18 sites in United States, Belgium and 4 more
- Volunteers
- 110 people
- Sponsor
- Genzyme, a Sanofi Company
Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa, Junctional
CACIPLIQ20 in Wound Healing in Subjects With Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a group of inherited disorders characterized by fragility of the skin and mucous membranes within the basement membrane zone.
- Trial name
- MATHBULL (NCT06007235)
- Testing
- CACIPLIQ20
- Where
- France
- Volunteers
- 16 people
- Sponsor
- Organ, Tissue, Regeneration, Repair and Replacement
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