Clinical trials: Genetic Mutation
Craniometaphyseal Dysplasia
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD.
- Trial name
- CMD (NCT01630460)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Cystic Fibrosis
Ivacaftor in French Patients With Cystic Fibrosis and a G551D Mutation
The purpose of this study is to determine whether the treatment with Ivacaftor remains effective and safe in the patients with cystic fibrosis (and at least one G551D CFTR mutation) in the real life setting, after the drug has…
- Trial name
- IVACAFTOR1 (NCT02194881)
- Testing
- CF patients with a G551D mutation and treated with Ivacaftor
- Where
- France
- Volunteers
- 57 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
MDS, Immunodeficiency
Pilot and Feasibility Study of Reduced-Intensity Hematopoietic Stem Cell Transplant for MonoMAC
Background: Stem cells are immature blood cells that grow in the bone marrow and produce all of the cells needed for normal blood and immunity.
- Conditions
- MDS, Immunodeficiency, GATA2
- Trial name
- NCT00923364
- Testing
- Cyclophosphamide (CTX, Cytoxan), Fludarabine(Fludara,Berlex Laboratories), Total Body Irradiation (TBI)
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- National Cancer Institute (NCI)
Homozygous Familial Hypercholesterolemia
NGGT006 Gene Therapy for Homozygous Familial Hypercholesterolemia
This is an early phase 1, open-label, single-center, dose-escalation, pilot trial to evaluate the safety and efficacy of an intravenous infusion of NGGT006 in homozygous familial hypercholesterolemia (HoFH) patients with LDLR…
- Trial name
- NCT06125847
- Testing
- NGGT006
- Where
- China
- Volunteers
- 21 people
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Sensorineural Hearing Loss, Bilateral, AUNB1
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
- Conditions
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness
- Trial name
- Otoconex (NCT05402813)
- Testing
- Pure Tone Audiometry Assessment, Quality of Life Questionnaires
- Where
- France
- Volunteers
- 180 people
- Sponsor
- Sensorion
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Ovarian Cancer
Psychosexual Consequences of Risk-reducing Salpingo-oophorectomy
Short Rationale: Risk-reducing salpingo-oophorectomy (RRSO) is a mainstay in preventing ovarian cancer in BRCA1/2 mutation carriers, as ovarian cancer screening is ineffective in detecting ovarian cancer in an early and curable…
- Trial name
- PURSUE (NCT02372864)
- Testing
- Mindfulness based stress reduction (MBSR)
- Where
- Netherlands
- Volunteers
- 66 people
- Sponsor
- University Medical Center Groningen
Epidermolysis Bullosa Dystrophica, Recessive, Epidermolysis Bullosa Dystrophica, Dominant
A Double-blind, Randomized, Intra-subject Placebo-controlled, Multicenter, Multiple Dose Study, Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With Confirmed DDEB or RDEB Diagnosis With One or More Pathogenic Mutations in Exon 73 in the COL7A1 Gene
A double-blind, randomized, intra-subject placebo-controlled, multicenter, multiple dose study, evaluating safety, proof of mechanism, preliminary efficacy and systemic exposure in subjects with confirmed DDEB or RDEB diagnosis…
- Trial name
- NCT03605069
- Testing
- QR-313
- Where
- 6 sites in United States, France and 1 more
- Volunteers
- 2 people
- Sponsor
- Phoenicis Therapeutics
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.
Dentatorubral-Pallidoluysian Atrophy
Personalized Antisense Oligonucleotide Therapy for A Single Participant With ATN1 Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide…
- Trial name
- NCT06706388
- Testing
- nL-ATN1-002
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Advanced or Metastatic Solid Tumors With Germline PTEN Inactivating Mutations
TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Mutations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor activity of TAS-117 in patients with advanced or metastatic solid tumors (excluding primary brain tumors)…
- Trial name
- NCT04770246
- Testing
- TAS-117
- Where
- 8 sites in United States, Austria and 2 more
- Volunteers
- 17 people
- Sponsor
- Taiho Oncology, Inc.
Gene Mutations, Pseudoxanthoma Elasticum
ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to…
- Conditions
- Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- Trial name
- NCT06462547
- Testing
- INZ-701
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 22 people
- Sponsor
- Inozyme Pharma
Germline Mutation, Myelodysplastic Syndromes
Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Background: Hereditary hematopoietic malignancy (HHM) syndromes are a group of inherited disorders that raises the risk of blood cancers.
- Conditions
- Germline Mutation, Myelodysplastic Syndromes, Acute Myeloid Leukemia
- Trial name
- NCT07019155
- Where
- United States
- Volunteers
- 510 people
- Sponsor
- National Cancer Institute (NCI)
Lymphoma, Follicular
A Study of Tazemetostat on Safety in Participants With Relapsed or Refractory Follicular Lymphoma With Enhancer of Zeste Homolog 2 (EZH2) Gene Mutation in Japan
The primary purpose of the study is to investigate the safety of tazemetostat in participants with relapsed or refractory follicular lymphoma with EZH2 gene mutation under daily clinical practice.
- Trial name
- NCT05228158
- Testing
- Tazemetostat
- Where
- 135 sites in Japan
- Volunteers
- 145 people
- Sponsor
- Eisai Co., Ltd.
Infections, Pneumonia
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a…
- Conditions
- Infections, Pneumonia, Immune System Diseases, STAT3 Transcription Factor
- Trial name
- NCT00006150
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Citrate Transporter Deficiency, SLC13A5 Gene Mutation
Triheptanoin (UX007) to Treat Citrate Transporter Deficiency
The purpose of this study is to determine whether triheptanoin (UX007) is effective in the treatment of neurological symptoms related to citrate transporter deficiency (SLC13A5 gene mutation).
- Trial name
- NCT02500082
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Irina A Anselm
β-thalassemia Major
β-globin Restored Autologous HSC in β-thalassemia Major Patients
This is a single center, single arm, open-label study to determine the safety and efficacy of β-globin restored autologous hematopoietic stem cells in β- thalassemia major patients with CVS-654 mutation.
- Trial name
- NCT04205435
- Testing
- β-globin restored autologous HSC
- Where
- China
- Volunteers
- 2 people
- Sponsor
- Bioray Laboratories
Duchenne Muscular Dystrophy
Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy
In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein.
- Trial name
- NCT00264888
- Testing
- PTC124
- Where
- 3 sites in United States
- Volunteers
- 38 people
- Sponsor
- PTC Therapeutics
Alagille Syndrome
Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach.
- Trial name
- NCT00001642
- Where
- United States
- Volunteers
- 225 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Osteopetrosis
Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5
The aim of the study is to describe patients with a high bone mass phenotype due to a mutation in the low density lipoprotein l receptor 5 gene (LRP5) and compare them with age and sex matched controls.
- Trial name
- NCT01199094
- Where
- Denmark
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Odense University Hospital