Clinical trials: Mutation
Duchenne Muscular Dystrophy
Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)
The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or…
- Trial name
- NCT01247207
- Testing
- Ataluren
- Where
- 34 sites in United States, Canada
- Volunteers
- 265 people
- Sponsor
- PTC Therapeutics
Retinal Dystrophy
Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Retinal Dystrophy due to PRPH2 mutation
- Trial name
- NCT07177196
- Testing
- nL-PRPH2-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
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
Interstitial Lung and Liver Disease, Infantile Liver Failure Syndrome 1
Impact of Mutations in Aminoacyl tRNA Synthetases on Protein Translation and Cellular Stress
Mutations in the genes encoding cytosolic aminoacyl-tRNA synthetases are responsible for early-onset multisystemic diseases including to varying degrees interstitial lung disease, liver damage, neurological and digestive…
- Conditions
- Interstitial Lung and Liver Disease, Infantile Liver Failure Syndrome 1, Neurologic, Endocrine and Pancreatic Disease, Multisystem, Infantile-Onset 2, Rajab Interstitial Lung Disease With Brain Calcifications 2
- Trial name
- FIBROMARS (NCT05514470)
- Testing
- Skin biopsy
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Advanced Gastric Adenocarcinoma
Study of AZD1775 in Combination With Paclitaxel, in Advanced Gastric Adenocarcinoma Patients Harboring TP53 Mutation as a Second-line Chemotherapy
This study is a single arm, single center phase II study of AZD1775 in combination with paclitaxel in patients with advanced gastric adenocarcinoma harboring TP53 mutation as a second-line chemotherapy.
- Trial name
- NCT02448329
- Testing
- AZD1775, paclitaxel
- Where
- South Korea
- Volunteers
- 26 people
- Sponsor
- Samsung Medical Center
X-Linked Hypophosphataemia
A UK Multicentre, Health-Related Quality of Life Study for Children and Adolescents With XLH
This study aims to provide Health-related Quality of Life (HRQoL) data from children and adolescents with growing skeletons in the United Kingdom (UK), including those treated with burosumab or alternative XLH treatment, as part…
- Trial name
- NCT04819490
- Where
- 6 sites in United Kingdom
- Volunteers
- 32 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Chronic Pancreatitis, Exocrine Pancreas Carcinoma
Biospecimen Collection to Identify Gene Mutations for High Risk Pancreatic Cancer in Pediatric Patients, INSPPIRE 2 Study
This clinical trial collects blood, saliva, urine, or stool samples to help identify possible genetic mutations that may increase a person's chance at developing pancreatic cancer.
- Conditions
- Chronic Pancreatitis, Exocrine Pancreas Carcinoma, Recurrent Acute Pancreatitis
- Trial name
- NCT06651580
- Testing
- Biospecimen Collection, Quality-of-Life Assessment, Questionnaire Administration
- Where
- 26 sites in United States, Australia and 2 more
- Volunteers
- 1,600 people
- Sponsor
- M.D. Anderson Cancer Center
Desmoid, Desmoid Fibromatosis of Skin
Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis
In this study Drug-eluting microbeads (DEB) loaded with Doxorubicin will be delivered into the target Desmoid Fibromatoses (DF) tissue via selective arterial embolization by angiographic technique.
- Conditions
- Desmoid, Desmoid Fibromatosis of Skin, Desmoid Neoplasm of Chest Wall, Desmoid Tumor Caused by Somatic Mutation
- Trial name
- NCT03966742
- Testing
- Drug Eluting Bead Embolization (DEB) for Desmoid Fibromatosis
- Where
- Israel
- Volunteers
- 8 people
- Sponsor
- Rabin Medical Center
Hearing Loss
Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
Disequilibrium between acid and base in the inner ear was suggested to be an important factor leading to hearing impairment associated with SLC26A4 mutations.
- Trial name
- NCT00789061
- Testing
- Proton pump inhibitor
- Where
- Taiwan
- Volunteers
- 120 people
- Sponsor
- National Taiwan University Hospital
Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
Gentamicin Treatment of Muscular Dystrophy
This study will evaluate the antibiotic gentamicin for treating patients with muscular dystrophy caused by a specific genetic abnormality known as a nonsense mutation.
- Trial name
- NCT00005574
- Testing
- Gentamicin
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
RAS Mutation
Hematological Anomalies in Children With Rasopathy
During childhood, patients with RASopathies (Noonan syndrome and related diseases) can harbor various hematological anomalies ranging from isolated monocytosis, myelemia, thrombocytopenia or splenomegaly to myeloproliferative…
- Trial name
- RAS-HEMATO (NCT04286360)
- Where
- 14 sites in France
- Volunteers
- 300 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Blood Platelet Disorders
Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease
The term MYH9-related disease (MYH9RD) includes four genetic disorders: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome.
- Trial name
- NCT01133860
- Testing
- eltrombopag
- Where
- 3 sites in Italy
- Volunteers
- 12 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
- Trial name
- NCT06333249
- Testing
- rAAV2tYF-GRK1-RPGR
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- Beacon Therapeutics
Breast Cancer
A Study to Learn About the Safety of TALZENNA for the Treatment of Breast Cancer
The purpose of this study is to learn about the safety of TALZENNA for the patients with breast cancer that cannot be removed by surgery and has come back.
- Trial name
- NCT06735742
- Where
- Japan
- Volunteers
- 3 people
- Sponsor
- Pfizer
Malignant Peripheral Nerve Sheath Tumors (MPNST)
A Study of ASTX727 in People With Malignant Peripheral Nerve Sheath Tumors (MPNST)
The purpose of this study is to see whether the study drug ASTX727 is an effective treatment for people who have MPNST with a PCR2 mutation.
- Trial name
- NCT04872543
- Testing
- ASTX727
- Where
- 7 sites in United States
- Volunteers
- 25 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood
A Prospective Multicenters Clinical Cohort Study of Stratified Treatment of Chinese Children With LBL
With the development of molecular biology and precise medical treatment, new challenges have been raised in the diagnosis and treatment of non-Hodgkin lymphoma (NHL) in children.
- Conditions
- Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood, PTEN Loss, NOTCH1 Gene Mutation
- Trial name
- NCT03971318
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Sun Yat-sen University
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
Retinitis Pigmentosa Associated With CNGB1 Mutations
CNGB1 and Allied Disorders
Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision.
- Trial name
- NCT04639635
- Testing
- No intervention, this is a natural history progression study
- Where
- 6 sites in United States, France and 2 more
- Volunteers
- 20 people
- Sponsor
- Columbia University
Non-small Cell Lung Cancer, Aquired Resistance
Acquired Resistant Mechanism of the First-generation EGFR TKIs
Patients with advanced non-small-cell lung cancer (NSCLC) harboring sensitive epithelial growth factor receptor (EGFR) mutations invariably develop acquired resistance to EGFR tyrosine kinase inhibitors (TKIs).
- Conditions
- Non-small Cell Lung Cancer, Aquired Resistance, EGFR TKIs
- Trial name
- NCT02804217
- Testing
- Genetic: mutation profile
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Zhejiang Cancer Hospital
Metabolic Disease
Characterisation of the Human Carboxylesterase 1 (CES1) Mutations in Thailand
The aim of this study is to evaluate the conversion of OP to OC in individual X and the family member of individual X. The investigators hypothesize that one or more of the single nucleoprotein polymorphisms (SNPs) of the CES1…
- Trial name
- NCT01443806
- Testing
- Oseltamivir
- Where
- Thailand
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Oxford