Clinical trials: Mutations
Denys-Drash Syndrome, Frasier Syndrome
Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
The Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development.
- Conditions
- Denys-Drash Syndrome, Frasier Syndrome, Nephrotic Syndrome, Wilms Tumor
- Trial name
- NCT01252901
- Where
- Germany
- Volunteers
- 52 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Spasticity, Muscle, Microcephaly
Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss.
- Conditions
- Spasticity, Muscle, Microcephaly, Intellectual Deficiency, Growth Retardation
- Trial name
- NCT05518188
- Testing
- MELPIDA
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Elpida Therapeutics SPC
Cancer
Study to Investigate Safety, Pharmacokinetic (PK), Pharmacodynamic (PD) and Clinical Activity of Trametinib in Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Subjects With Cancers Harboring V600 Mutations
This was a 4-part (Part A, Part B, Part C and Part D), Phase I/IIa, multi-center, open label, study in pediatric subjects with refractory or recurrent tumors.
- Trial name
- NCT02124772
- Testing
- Trametinib, Dabrafenib
- Where
- 16 sites in United States, Australia and 3 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
Recurrent Non-Small Cell Lung Carcinoma, Stage IV Non-Small Cell Lung Cancer
S1403, Afatinib Dimaleate With or Without Cetuximab in Treating Patients With Newly Diagnosed Stage IV or Recurrent, EGFR Mutation Positive Non-small Cell Lung Cancer
This randomized phase II/III trial studies how well afatinib dimaleate with cetuximab works and compares it with afatinib dimaleate alone in treating patients with newly diagnosed stage IV or recurrent (has come back), epidermal…
- Trial name
- NCT02438722
- Testing
- Afatinib Dimaleate, Cetuximab, Laboratory Biomarker Analysis
- Where
- 638 sites in United States
- Volunteers
- 174 people
- Sponsor
- SWOG Cancer Research Network
NSCLC
An Open Label Study of BIBW 2992/Afatinib in Advanced Non-Small Cell Lung Cancer Patients Pre-treated With Erlotinib or Gefitinib
Advanced lung cancer (non-small cell lung cancer) with a mutation in the EGFR (epidermal growth factor receptor) gene, which have disease progression after treatment with an EGFR inhibitor (erlotinib or gefitinib), and have…
- Trial name
- NCT01932229
- Testing
- Afatinib treatment
- Where
- Israel
- Volunteers
- 20 people
- Sponsor
- Sheba Medical Center
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Phase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
DMD/BMD is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT00592553
- Testing
- Ataluren
- Where
- 37 sites in United States, Australia and 9 more
- Volunteers
- 174 people
- Sponsor
- PTC Therapeutics
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping/Phenotyping
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
- Trial name
- NCT02340689
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 1,235 people
- Sponsor
- Mayo Clinic
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
MECP2-Related Severe Neonatal Encephalopathy, Dysautonomia
Dysautonomic Phenotype in Male Patients With MECP2 Mutation
Dysautonomic signs are well known among girls with a Rett Syndrom. Rett syndrom is caused by a MECP2 mutation in 95% of cases. We want to search dysautonomic signs among boys with a MECP2 mutations because they are less studied…
- Conditions
- MECP2-Related Severe Neonatal Encephalopathy, Dysautonomia, Masculinity
- Trial name
- MECP2BOYS (NCT04502199)
- Testing
- non interventional study
- Where
- 7 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Brest
Retinal Dystrophy
A Study of LX107 Gene Therapy in AIPL1-IRD Patients
Administering subretinal injection of LX107 injection (a gene therapy drug) to patients with retinal dystrophy caused by AIPL1 gene mutation to evaluate its efficacy and safety.
- Trial name
- NCT07063030
- Testing
- LX107 Injection
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
Leukemia
Pre-existing Kinase Domain Mutations in Ph-positive Leukemias
The main task of this study includes analyses of the BCR-ABL1 (breakpoint cluster region/Abelson) gene and mutations in the BCR-ABL1 tyrosine kinase domain within flow-sorted stem cells from the bone marrow and/or peripheral…
- Trial name
- NCT02643888
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- St. Anna Kinderkrebsforschung
Developmental Bone Disease, Dwarfism
Study of Skeletal Disorders and Short Stature
This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time.
- Conditions
- Developmental Bone Disease, Dwarfism, Skeletal Dysplasias
- Trial name
- NCT00001754
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
ALK-activated Tumors
Phase I Study of LDK378 in Pediatric, Malignancies With a Genetic Alteration in Anaplastic Lymphoma Kinase (ALK)
The purpose of this study was to estimate the maximum tolerated dose and/or recommended dose for expansion of LDK378 as a single agent, assess safety, tolerability and anti-tumor activity and characterize single and multiple-dose…
- Trial name
- NCT01742286
- Testing
- Ceritinib
- Where
- 23 sites in United States, Australia and 8 more
- Volunteers
- 83 people
- Sponsor
- Novartis Pharmaceuticals
Rare Unresectable or Metastatic BRAF V600E Mutation-positive Solid Tumors
Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors
This study is a phase IV, pragmatic single-arm prospective, open label study in pediatric (1 years or older) and adult study participants with rare BRAF V600E mutation-positive unresectable or metastatic solid tumors for whom a…
- Trial name
- NCT05868629
- Testing
- Non-investigational
- Where
- 8 sites in United States
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
Centronuclear Myopathy
Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies
There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety and tolerability as well as pharmacokinetics (PK), pharmacodynamics (PD) and…
- Trial name
- DyNaMic (NCT04743557)
- Testing
- DYN101
- Where
- 2 sites in France, Germany
- Sponsor
- Dynacure
Acute Myeloid Leukemia
Safety and Efficacy of Quizartinib in Children and Young Adults With Acute Myeloid Leukemia (AML), a Cancer of the Blood
Quizartinib is an experimental drug. It is not approved for regular use. It can only be used in medical research. Children or young adults with a certain kind of blood cancer (FLT3-ITD AML) might be able to join this study if it…
- Trial name
- NCT03793478
- Testing
- Quizartinib, Fludarabine, Cytarabine
- Where
- 27 sites in United States, Belgium and 8 more
- Volunteers
- 65 people
- Sponsor
- Daiichi Sankyo
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25…
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04594590
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- State University of New York at Buffalo
Pseudohermaphroditism, Congenital Adrenal Hyperplasia
Mutation Analysis of 17α-Hydroxylase
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
- Conditions
- Pseudohermaphroditism, Congenital Adrenal Hyperplasia, Hypertension
- Trial name
- NCT00172510
- Testing
- blood drawing
- Where
- Taiwan
- Volunteers
- 25 people
- Sponsor
- National Taiwan University Hospital
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.
This clinical trial is looking at two drugs called dabrafenib and trametinib. Dabrafenib and trametinib are approved as standard of care treatment for adult patients with melanoma (a type of skin cancer) or lung cancer and in…
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT07440290)
- Testing
- Dabrafenib, Trametinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK