Clinical trials: Mutations
Muscular Dystrophy, Duchenne
Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations
Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones.
- Trial name
- NCT05833633
- Testing
- MUSCLE MAGNETIC RESONANCE IMAGING (MRI)
- Where
- Italy
- Volunteers
- 17 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Thromboembolic Venous Disease
New Genetic Mutations in Thromboembolic Venous Disease Idiopathic. Study "FIT GENETIQUE".
Identify new genetic mutations predisposing to an increased risk of VTE by locating and / or identifying genes involved in subjects at high risk for thrombotic and in whom screening for detectable hereditary thrombophilia was…
- Trial name
- Fit-Génétique (NCT02841085)
- Testing
- Genetic sample
- Where
- France
- Volunteers
- 613 people
- Sponsor
- University Hospital, Brest
Gastrointestinal Stromal Tumors
A Study of Sunitinib In Young Patients With Advanced Gastrointestinal Stromal Tumor
Children and young adults with gastrointestinal stromal tumors (GIST) will be treated with sunitinib. The safety (including pharmacokinetics) and tolerability of sunitinib will be studied in these patients.
- Trial name
- NCT01396148
- Testing
- sunitinib malate dose escalation, sunitinib malate
- Where
- 9 sites in United States, Czechia and 1 more
- Volunteers
- 6 people
- Sponsor
- Pfizer
Drug-Resistant Epilepsy, ARX-Related Epilepsy
Occupational Therapy Approach in ARX-Related Epilepsy
This study evaluated the effects of medical ketogenic diet therapy combined with occupational therapy in children with ARX-related epilepsy. Twenty children were included.
- Trial name
- NCT07745608
- Testing
- Occupational Therapy, Medikal Ketogenic Diet Therapy
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people
- Sponsor
- Uskudar University
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of sirolimus for targeting social communication deficits in people with genetic disorders associated with PTEN germline mutations, which are often referred to…
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
- Trial name
- NCT06080165
- Testing
- Sirolimus
- Where
- 3 sites in United States
- Sponsor
- Stanford University
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
This is an observational, multicentre, international study over a 2-year follow-up period. The aim of this study is to understand how XLHED affects the lives of young male patients and their families over time.
- Trial name
- EdeReaLife (NCT07096206)
- Where
- 2 sites in France, Germany
- Volunteers
- 27 people
- Sponsor
- Pierre Fabre Medicament
Retinitis Pigmentosa 11, Retinal Degeneration
MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
A Phase 1 Open-Label, Multiple Ascending Dose Study to Evaluate the Safety and Tolerability of Intravitreally Administered VP-001 in Participants with Confirmed PRPF31 Mutation-Associated Retinal Dystrophy
- Conditions
- Retinitis Pigmentosa 11, Retinal Degeneration, Eye Diseases, Retinal Disease
- Trial name
- NCT06455826
- Testing
- VP-001
- Where
- 5 sites in United States
- Volunteers
- 6 people
- Sponsor
- PYC Therapeutics
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
NF type1 With Inoperable Plexiform Neurofibromas
An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1
This will be an open-label, single-arm, multicenter intermediate access protocol which provides treatment access to selumetinib for eligible patients with neurofibromatosis type 1 (NF1) who have inoperable…
- Trial name
- NCT03259633
- Testing
- Selumetinib
- Where
- United States
- Sponsor
- AstraZeneca
Leukemia
Biomarkers in Samples From Young Patients With Acute Myeloid Leukemia
RATIONALE: Studying bone marrow samples from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01247584
- Testing
- DNA analysis, mutation analysis, polymerase chain reaction
- Volunteers
- 234 people
- Sponsor
- Children's Oncology Group
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
Hyper IgE Syndrome From STAT3 Mutation, Job s Syndrome
Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis
Background: Autosomal dominant hyper-IgE syndrome (HIES), also called Job syndrome, is a genetic disorder that affects the immune system.
- Conditions
- Hyper IgE Syndrome From STAT3 Mutation, Job s Syndrome, HIES, Lupus
- Trial name
- NCT07262983
- Testing
- baricitinib
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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
- 56 sites in United States, France and 5 more
- Volunteers
- 186 people
- Sponsor
- Ascendis Pharma A/S
Cystic Fibrosis
Extension Study of Ataluren (PTC124) in Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder caused by a mutation in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
- Trial name
- NCT01140451
- Testing
- Ataluren
- Where
- 31 sites in United States, Belgium and 9 more
- Volunteers
- 191 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of VX-371 in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation
The purpose of this study is to evaluate the safety and efficacy of treatment with VX-371 in hypertonic saline compared to hypertonic saline alone in subjects with cystic fibrosis (CF) who are ≥12 years of age, homozygous for the…
- Trial name
- NCT02709109
- Testing
- VX-371 + HS, Hypertonic saline, Orkambi
- Where
- 40 sites in United States, France and 2 more
- Volunteers
- 147 people
- Sponsor
- Parion Sciences
Nasal Polyp, Smoking
The Factors Associated With the Formation of Nasal polyp-a Case Control and Descriptive Study
Nasal polyp is a significant health problem with a prevalence of 4%. It is increased in patients with asthma (7-15%), Cystic fibrosis (39-56%) or aspirin intolerance (36-96%).The quality of life (QOL) is worse than in patients…
- Conditions
- Nasal Polyp, Smoking, Rhinosinusitis, Allergic Rhinitis
- Trial name
- ACAAGSONP (NCT01278719)
- Where
- India
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Karnataka Institute of Medical Sciences
Leber Congenital Amaurosis, LCA
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
Primary Objective: To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate…
- Conditions
- Leber Congenital Amaurosis, LCA, LCA1
- Trial name
- NCT03920007
- Testing
- ATSN-101, ATSN-101 Diluent Solution, Prednisone
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- Atsena Therapeutics Inc.
Permanent Neonatal Diabetes Mellitus
Long-Term Sulfonylurea Response in ABCC8 Neonatal Diabetes (SuResponsSUR)
The purpose of this study is to investigate long term response of sulfonylurea and glucose control in children with diabetes due to mutations in ABCC8 that have been switched from insulin injections to sulfonylurea tablets.
- Trial name
- SuResponsSUR (NCT02624830)
- Testing
- Sulfonylurea
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Haukeland University Hospital
Cystic Fibrosis
A Study to Evaluate Safety, Efficacy, and Tolerability of TEZ/IVA in Orkambi® (Lumacaftor/Ivacaftor) -Experienced Subjects With Cystic Fibrosis (CF)
Study VX16-661-114 (Study 114) is a Phase 3b, randomized, double-blind, placebo-controlled, parallel-group, multicenter study in subjects aged 12 years and older with CF who are homozygous for the F508del mutation on the cystic…
- Trial name
- NCT03150719
- Testing
- Tezacaftor/Ivacaftor, Ivacaftor
- Where
- 53 sites in United States, France and 1 more
- Volunteers
- 98 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Chronic Granulomatous Disease, Granulomatous Disease, Chronic
A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
This is an open-label, single-arm, multicenter Phase 1/2 study evaluating the safety and efficacy of gene therapy by transplantation of Prime Edited autologous CD34+ stem cells modified ex vivo (PM359) in participants with…
- Trial name
- NCT06559176
- Testing
- PM359
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Prime Medicine, Inc.