Clinical trials: Gene Mutations
- Condition Gene Mutations
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
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
Desmoid Tumor, NOTCH Gene Mutation Positive Tumors
Individual Patient Compassionate Use of Nirogacestat
This program is being offered on a patient by patient basis and will require company, Institutional Review Board/Independent Ethics Committee, and applicable competent authority approval.
- Trial name
- NCT05041036
- Testing
- Nirogacestat (Gamma Secretase Inhibitor)
- Where
- 2 sites in United States, Germany
- Sponsor
- SpringWorks Therapeutics, Inc., a healthcare company of Merck KGaA, Darmstadt, Germany
Turner Syndrome, Short Stature Homeobox Gene Mutation
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
This basket trial will enroll prepubertal children and adolescents with clinically diagnosed and genetically confirmed (if applicable) TS, SHOX-D, SGA, or ISS between ages of ≥2 and <18 years with open growth plates.
- Conditions
- Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
- Trial name
- NCT07221851
- Testing
- Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
- Where
- 51 sites in United States, France and 5 more
- Volunteers
- 186 people
- Sponsor
- Ascendis Pharma A/S
GJB2-mediated Hearing Loss, GJB2 Gene Mutation
Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss
Skylark Bio is conducting a study of an investigational new drug called SKY-GJB2 and its delivery device, the SKY-CAT. SKY-GJB2 is a gene therapy that is being developed to treat children who have hearing loss due to changes in…
- Conditions
- GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
- Trial name
- SONIX (NCT07627971)
- Testing
- SKY-GJB2
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Skylark Bio Inc.
Advanced Solid Tumor, Metastatic Solid Tumor
Safety/Efficacy Study of CID-078 in Patients With Advanced Solid Tumor Malignancies
This is a first-in-human, multicenter, open-label, phase 1 study to evaluate safety, tolerability, and efficacy of CID-078, a Cyclin A/B-RxL inhibitor, in patients with advanced solid tumors.
- Conditions
- Advanced Solid Tumor, Metastatic Solid Tumor, Refractory Solid Tumor, Cancer
- Trial name
- NCT06577987
- Testing
- CID-078 Monotherapy
- Where
- 10 sites in United States
- Volunteers
- 220 people
- Sponsor
- Circle Pharma
Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations
Regeneron is conducting a study of an investigational new drug called DB-OTO. DB-OTO is a gene therapy that is being developed to treat pediatric and adult participants who have severe-to profound and profound hearing loss due to…
- Trial name
- CHORD (NCT05788536)
- Testing
- DB-OTO
- Where
- 17 sites in United States, Germany and 3 more
- Volunteers
- 36 people
- Sponsor
- Regeneron Pharmaceuticals
OTOF Gene Mutation, DFNB9
A Phase I/II Clinical Trial With SENS-501 in Children Suffering From Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
This study intends to assess safety, tolerability, and efficacy of SENS-501 in children between the ages of 6-31 months with pre-lingual hearing loss due to a mutation in the Otoferlin gene.
- Conditions
- OTOF Gene Mutation, DFNB9, Congenital Deafness, Hearing Disorders
- Trial name
- AUDIOGENE (NCT06370351)
- Testing
- SENS-501 administration
- Where
- 2 sites in Australia, France
- Volunteers
- 12 people
- Sponsor
- Sensorion
Pancreatic Cancer, Small Bowel Cancer
Expanded Access to Ulixertinib (BVD-523) in Patients With Advanced MAPK Pathway-Altered Malignancies
The objective of this expanded access program is to provide ulixertinib (BVD-523) for compassionate use in advanced cancer patients with MAPK pathway-altered solid tumor(s), including but not limited to KRAS, NRAS, HRAS, BRAF…
- Conditions
- Pancreatic Cancer, Small Bowel Cancer, Colorectal Cancer, Melanoma
- Trial name
- NCT04566393
- Testing
- Ulixertinib (BVD-523)
- Where
- 26 sites in United States
- Sponsor
- xCures
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
Treatment of Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Clinical Trial of EHT102 Injection in Pediatric Patients With Biallelic hOTOF Mutations
This study is a multicenter, single-arm, open-label Phase I/II clinical trial, which is designed to evaluate the safety, tolerability and efficacy of EHT102 injection in treating congenital hearing loss secondary to biallelic…
- Trial name
- NCT07288580
- Testing
- EHT102 Injection
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shanghai Euhearing Therapeutics Co., Ltd
ALL, Adult, AML, Adult
A Study of BN104 in the Treatment of Acute Leukemia
The Phase I/II trial is to learn the safety, pharmacokinetics, and preliminary efficacy of BN104 taken once daily or twice daily in patients with acute lymphocytic leukemia or acute myeloblastic leukemia.
- Conditions
- ALL, Adult, AML, Adult, Acute Leukaemia, KMT2A Rearrangement
- Trial name
- NCT06052813
- Testing
- BN104 monotherapy, BN104 monotherapy - rp2d
- Where
- China
- Volunteers
- 66 people
- Sponsor
- Institut de Recherches Internationales Servier (I.R.I.S.)
Melanoma, Solid Tumor
Tovorafenib (DAY101) Monotherapy for Patients With Melanoma and Other Solid Tumors
This is a Phase 2, multi-center, open-label to evaluate the efficacy and safety of tovorafenib (DAY101) in participants ≥12 years of age with recurrent or progressive melanoma or solid tumors with BRAF fusion or CRAF/RAF1 fusions…
- Conditions
- Melanoma, Solid Tumor, CRAF Gene Amplification, RAF1 Gene Amplification
- Trial name
- NCT04985604
- Testing
- Tovorafenib
- Where
- 20 sites in United States, Australia and 5 more
- Volunteers
- 23 people
- Sponsor
- Day One Biopharmaceuticals, Inc.
Melanoma, Solid Tumor
Tovorafenib (DAY101) or in Combination With Pimasertib for Participants With Melanoma and Other Solid Tumors
This is a subprotocol of Master Protocol DAY101-102 and is a Phase 1b/2, multi-center, open label subprotocol of participants ≥12 years of age, with recurrent or progressive solid tumors with alterations in the key proteins of…
- Conditions
- Melanoma, Solid Tumor, Pilocytic Astrocytoma, Non Small Cell Lung Cancer
- Trial name
- NCT07121829
- Testing
- Tovorafenib, Tovorafenib Drug: Pimasertib
- Where
- 10 sites in United States, Canada
- Volunteers
- 44 people
- Sponsor
- Day One Biopharmaceuticals, Inc.
Unresectable or Metastatic Melanoma or Advanced Solid Tumors, Melanoma
A Study of APG-115 in as a Monotherapy or Combination With Pembrolizumab in Patients With Metastatic Melanomas or Advanced Solid Tumors
This study aims to assess the safety, tolerability, pharmacokinetics, and preliminary efficacy of APG-115, an MDM2 inhibitor, either alone or in combination with pembrolizumab, a programmed cell death protein-1 (PD-1) inhibitor…
- Conditions
- Unresectable or Metastatic Melanoma or Advanced Solid Tumors, Melanoma, Uveal Melanoma, P53 Mutation
- Trial name
- NCT03611868
- Testing
- Phase 1b: APG-115+pembrolizumab
- Where
- 21 sites in United States, Australia
- Volunteers
- 230 people
- Sponsor
- Ascentage Pharma Group Inc.
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
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.
FLT3-ITD Mutation, FLT3/TKD Mutation
Individual Patient Compassionate Use of Crenolanib
Compassionate use of crenolanib for patients with serious life-threatening illness that have exhausted all available therapies used to treat the disease, with no other viable therapy options, who is not eligible for clinical…
- Conditions
- FLT3-ITD Mutation, FLT3/TKD Mutation, PDGFR-Alpha D842V, PDGFRA Gene Amplification
- Trial name
- NCT03620318
- Testing
- Crenolanib besylate
- Where
- Italy
- Sponsor
- Arog Pharmaceuticals, Inc.
APDS Gene Mutation
An Open-Label Study to Assess the Safety & Efficacy of Leniolisib in Japanese Patients With APDS
An Open-Label, Non-Randomized Study to Assess the Safety and Efficacy of Leniolisib in Japanese Patients With Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Followed By an Open-Label Long-Term Extension.
- Trial name
- NCT06249997
- Testing
- Leniolisib
- Where
- 2 sites in Japan
- Volunteers
- 3 people
- Sponsor
- Pharming Technologies B.V.
Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene Mutations
Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
The purpose of this screening study is to identify people who have a rare genetic cause of obesity - specifically three genetic variants (a change in the DNA structure) of the POMC, PCSK1 and LepR genes that are currently known…
- Trial name
- NCT02849977
- Where
- 58 sites in United States, Canada and 5 more
- Volunteers
- 5,966 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.