Clinical trials: Mutations
Hypothyroidism
TSH Receptor Mutations Among a Consanguineous Community
Resistance to thyrotropin (RTSH) is a condition of impaired responsiveness of the thyroid gland to TSH, characterized by elevated TSH, low or normal thyroid hormone levels, and hypoplastic or normal-sized thyroid gland.
- Trial name
- TSHR (NCT00747760)
- Where
- 2 sites in United States, Israel
- Volunteers
- 209 people
- Sponsor
- HaEmek Medical Center, Israel
Malignant Melanoma
BRIM-P: A Study of Vemurafenib in Pediatric Patients With Stage IIIC or Stage IV Melanoma Harboring BRAFV600 Mutations
This open-label, multicenter. single arm Phase I dose-escalation study with efficacy tail extension will evaluate the maximum tolerated dose/recommended dose, the safety and efficacy of vemurafenib (RO5185426) in pediatric…
- Trial name
- NCT01519323
- Testing
- vemurafenib
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 6 people
- Sponsor
- Hoffmann-La Roche
Hemophilia B
Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype
It appears that the mutation p.Ile112Thr in the factor IX gene confers a discrepancy between mild factor IX level and severe bleeding phenotype. Databases and litterature analysis are poor on this matter.
- Trial name
- Hémophilie B (NCT03946384)
- Testing
- data collection
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Inherited Retinal Dystrophy Primarily Involving Sensory Retina, Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
To develop comprehensive genetic maps of inherited retinal diseases in Korean Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype…
- Trial name
- NCT03613948
- Where
- South Korea
- Volunteers
- 280 people
- Sponsor
- Gangnam Severance Hospital
Leukemia, Myeloid, Acute, Leukemia, Lymphocytic, Acute
A Phase 1/2 Study of Enzomenib (DSP-5336) in Patients With Acute Leukemia (Horizen-1)
A phase 1/2 dose escalation / dose expansion study of Enzomenib (DSP-5336) in patients with acute leukemia.
- Conditions
- Leukemia, Myeloid, Acute, Leukemia, Lymphocytic, Acute, Multiple Myeloma, Myelodysplastic Syndromes
- Trial name
- NCT04988555
- Testing
- Enzomenib, azoles, Venetoclax
- Where
- 104 sites in United States, Belgium and 10 more
- Volunteers
- 606 people
- Sponsor
- Sumitomo Pharma America, Inc.
Acute Lymphoblastic Leukemia ALL, Chronic Lymphocytic Leukemia (CLL)
Role of SF3B1 Mutation in Assessment of Acute and Chronic Lymphatic Leukemia
aim of the work 1. To evaluate the presence of SF3B1-K700E mutation in acute lymphoblastic leukemia and chronic lymphocytic leukemia. 2.
- Trial name
- NCT07113132
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Safaa Ali
Advanced or Metastatic Solid Tumors
A Study to Assess Naporafenib (ERAS-254) Administered With Trametinib in Patients With RAS Q61X Mutations
To evaluate the efficacy of naporafenib administered with trametinib in patients with rat sarcoma viral oncogene (RAS) Q61X solid tumors To evaluate the safety and tolerability of naporafenib administered with trametinib in…
- Trial name
- SEACRAFT-1 (NCT05907304)
- Testing
- Naporafenib, Trametinib
- Where
- 29 sites in United States, Australia and 3 more
- Volunteers
- 86 people
- Sponsor
- Erasca, Inc.
Stargardt Disease
An Observational Study in Children and Adults With Stargardt Disease
This multicenter, prospective, longitudinal, observational study in approximately 80 subjects with Stargardt disease secondary to biallelic mutations in the ABCA4 gene (STGD1) aims to evaluate prognostic factors of disease…
- Trial name
- NCT06591806
- Where
- 2 sites in United States, Norway
- Volunteers
- 80 people
- Sponsor
- AAVantgarde Bio Srl
Sickle Cell Disease, Vaso-occlusive Crisis
A Study of a Single Dose of Inclacumab to Reduce Re-admission in Participants With Sickle Cell Disease and Recurrent Vaso-occlusive Crises
This Phase 3 study will assess the safety and efficacy of a single dose of inclacumab, a P-selectin inhibitor, for a vaso-occlusive crisis (VOC) after an index VOC in participants with sickle cell disease (SCD).
- Conditions
- Sickle Cell Disease, Vaso-occlusive Crisis, Vaso-occlusive Pain Episode in Sickle Cell Disease
- Trial name
- NCT04927247
- Testing
- Inclacumab
- Where
- 59 sites in United States, Brazil and 12 more
- Volunteers
- 72 people
- Sponsor
- Pfizer
Schuurs-Hoeijmakers Syndrome
Personalized Antisense Oligonucleotide for A Single Participant With PACS1 Gene Mutation Associated With Schuurs-Hoeijmakers Syndrome (SHMS)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug intended for a single participant with Schuurs-Hoeijmakers syndrome (SHMS) due to a pathogenic, de novo, heterozygous missense…
- Trial name
- NCT07474298
- Testing
- nL-PACS1-001
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations
The purpose of this study is: to evaluate the safety of oral QLT091001 to evaluate whether 7-day treatment with oral QLT091001 can improve visual function in subjects with LCA or RP due to RPE65 or LRAT mutations to evaluate…
- Trial name
- NCT01014052
- Testing
- QLT091001
- Where
- 7 sites in United States, Canada and 3 more
- Volunteers
- 32 people
- Sponsor
- QLT Inc.
Recurrent Ependymoma, Recurrent Ewing Sarcoma
Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well ivosidenib works in treating patients with solid tumors, including central nervous system tumors, lymphomas and histiocytic disorders that have not responded to (refractory) or…
- Conditions
- Recurrent Ependymoma, Recurrent Ewing Sarcoma, Recurrent Hepatoblastoma, Recurrent Langerhans Cell Histiocytosis
- Trial name
- NCT04195555
- Testing
- Ivosidenib
- Where
- 174 sites in United States, Australia and 1 more
- Volunteers
- 3 people
- Sponsor
- National Cancer Institute (NCI)
Atypical Hemolytic Uremic Syndrome
Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy
Hemolytic Uremic Syndrome (HUS) is a rare disease characterized by rupture of red blood cells (hemolytic anemia), low platelet count (thrombocytopenia), and thrombotic occlusion of small vessels (thrombotic microangiopathy), with…
- Trial name
- aHUS-iPSC-EC (NCT05805202)
- Testing
- Blood sampling and urine analysis
- Where
- Italy
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Biallelic RPE65 Mutation-associated Retinal Dystrophy
Gene Therapy in Subjects With Biallelic RPE65 Mutation-associated Retinal Dystrophy
The goal of this clinical trial is to evaluate the safety, tolerability and efficacy of subretinal administration of FT-001 in subjects with biallelic RPE65 mutation-associated retinal dystrophy.
- Trial name
- NCT05858983
- Testing
- FT-001 Low Dose, FT-001 Mid Dose, FT-001 High Dose
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Frontera Therapeutics
Muscular Dystrophy, Duchenne
A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)
Part 1 (dose escalation) will evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram [mg/kg] and 200 mg/kg) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will…
- Trial name
- MIS51ON (NCT03992430)
- Testing
- Eteplirsen
- Where
- 59 sites in United States, Colombia and 24 more
- Volunteers
- 160 people
- Sponsor
- Sarepta Therapeutics, Inc.
Cystic Fibrosis
Gastrointestinal Study at Orkambi Therapy in CF Patients
Ivacaftor caused a significance increase in weight in patients carrying the G551D mutation and the etiology of this has largely remained unknown but may be due to improved function of the gastrointestinal tract.
- Trial name
- NCT03859531
- Where
- Sweden
- Volunteers
- 20 people
- Sponsor
- Karolinska University Hospital
Osteopetrosis
Gene-Modified Stem Cell Therapy for Children With Autosomal Recessive Osteopetrosis (ARO)
This is a non-randomized, one-arm, open label, single-center, phase I/II, prospective study, to assess safety, feasibility and efficacy of FT024 in 8 children (Age: ≥ 28 days and ≤ 2 years old, Body weight: ≥ 4 kg) affected by…
- Trial name
- ARO (NCT07665021)
- Testing
- FT024
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Fondazione Telethon
Hemophilia A
Study Evaluating ReFacto in Hemophilia A
To identify the causative mutations in previously untreated patients with hemophilia A enrolled in the ReFacto® clinical safety and efficacy study CTN 93-R833-0XX/C9741-28, using two established hemophilia mutation testing…
- Trial name
- NCT00038909
- Testing
- BDDrFVII
- Volunteers
- 103 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Retinal Dystrophy Due to Biallelic ABCA4 Mutations, Stargardt Disease 1
Safety and Preliminary Efficacy of VG801 in Patients With ABCA4 Mutation-associated Retinal Dystrophy (Stargardt Disease)
This is a single-arm, open-label, non-randomized, single dose-escalation, first-in-human (FIH) clinical trial to evaluate the safety and preliminary efficacy of VG801 for treatment of patients with retinal dystrophy (Stargardt…
- Trial name
- NCT07002398
- Testing
- VG801
- Where
- China
- Volunteers
- 18 people
- Sponsor
- VeonGen Therapeutics GmbH
Stargardt, Stargardt's Disease
An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75…
- Conditions
- Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
- Trial name
- POLARIS (NCT06435000)
- Where
- 20 sites in United States, Germany and 1 more
- Volunteers
- 75 people
- Sponsor
- Splice Bio