Clinical trials: Genetic Profile
Growth Hormone Deficiency, Idiopathic Short Stature
Skeletal Muscle Effects of GH in Boys
The purpose of the study is to measure the functional effects of recombinant GH in skeletal muscle, in addition to growth promotion, in short prepubertal boys with either growth hormone deficiency or idiopathic short stature.
- Trial name
- NCT04020913
- Testing
- Somatropin injection
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Atopic Dermatitis
A Study of KT-621 Administered Orally to Participants With Moderate to Severe Atopic Dermatitis
This phase 2b study is designed to evaluate the safety and efficacy of KT-621 in adult and adolescent participants with moderate-to-severe atopic dermatitis (AD), a common form of eczema.
- Trial name
- BROADEN2 (NCT07217015)
- Testing
- KT-621
- Where
- 61 sites in United States, Australia and 6 more
- Volunteers
- 200 people
- Sponsor
- Kymera Therapeutics, Inc.
Juvenile Idiopathic Arthritis (JIA), Familial Mediterranean Fever (FMF )
Gait Profile and Variables in Pediatric Rheumatic Disease Using a Smart Insole System
In pediatric rheumatic diseases, joint swelling, effusion, tenderness, and painful restriction of joint movement, particularly in weight-bearing joints, frequently alter walking function.
- Conditions
- Juvenile Idiopathic Arthritis (JIA), Familial Mediterranean Fever (FMF ), Healthy Controls
- Trial name
- NCT06705673
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Sequence Analysis
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens
Genomic alterations have long been recognized as an important factor in tumor formation and drive tumor cell growth. However, the degree of genomic mutation (tumor mutation load, TMB) varies widely between tumors.
- Trial name
- NCT03719222
- Testing
- non intervention
- Where
- Taiwan
- Volunteers
- 600 people
- Sponsor
- ACT Genomics
Tuberous Sclerosis, Lymphangioleiomyomatosis
Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma
Tuberous Sclerosis Complex (TSC) is a multisystemic autosomal dominant disease that is characterized by the development of benign neoplasms in brain, kidney, lung, skin and heart.
- Conditions
- Tuberous Sclerosis, Lymphangioleiomyomatosis, Angiomyolipoma
- Trial name
- NCT02325505
- Where
- 3 sites in Brazil
- Volunteers
- 200 people
- Sponsor
- InCor Heart Institute
Exostoses, Multiple Hereditary
Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC
The purpose of this study is to establish the genetic profile of families in British Columbia with HME.
- Trial name
- NCT00473850
- Where
- Canada
- Volunteers
- 2,000 people
- Sponsor
- University of British Columbia
Scleroderma, Localized, Morphea
Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository
The Morphea in Adults and Children (MAC) cohort is the first registry for both children and adults with morphea (also known as localized scleroderma) in the country.
- Conditions
- Scleroderma, Localized, Morphea, Frontal Linear Scleroderma en Coup de Sabre, Scleroderma, Circumscribed
- Trial name
- MAC (NCT01808937)
- Testing
- Morphea
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Soft Tissue Sarcoma, Advanced Cancer
RNASARC - Molecular Screening Program of Soft Tissue Sarcomas With Complex Genomic Profile to Detect NTRK1/2/3, ROS1 or ALK Gene Fusions.
This trial is a multicenter, prospective cohort study aiming to describe molecular profiles of soft tissue sarcoma (STS) with complex genomic profiles in particular to assess the incidence of NTRK1/2/3, ROS1 or ALK gene fusions…
- Conditions
- Soft Tissue Sarcoma, Advanced Cancer, Metastatic Cancer
- Trial name
- RNASARC (NCT03375437)
- Testing
- Blood and tumor samples
- Where
- 10 sites in France
- Volunteers
- 376 people
- Sponsor
- Centre Leon Berard
Duchenne Muscular Dystrophy
A Study of ATL1102 or Placebo in Participants With Non-ambulatory Duchenne Muscular Dystrophy
This Phase IIb study is a two part, multicenter study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of ATL1102 in non-ambulant boys with Duchenne Muscular Dystrophy aged 10 to <18 years old.
- Trial name
- NCT05938023
- Testing
- ATL1102 25mg, ATL1102 50mg
- Where
- 13 sites in Australia, Bulgaria and 3 more
- Volunteers
- 48 people
- Sponsor
- Percheron Therapeutics
Down Syndrome
Phosphoproteomic Profile of Children With Down Syndrome
One of the major causes of cognitive disorders limiting the learning abilities of children with Down's syndrome is excess activity of the DYRK1A protein kinase, whose gene is located on chromosome 21.
- Trial name
- PEPS (NCT06279208)
- Testing
- Blood sample
- Where
- 9 sites in France
- Volunteers
- 60 people
- Sponsor
- Perha Pharmaceuticals
Cardiovascular Diseases, Heart Diseases
Genomic Dissection of a QTL Affecting the Lipid Profile
To search for the genetic cause of the metabolic syndrome, a lipid disorder that poses a major risk for coronary heart disease.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Obesity, Hyperlipidemia, Familial Combined
- Trial name
- NCT00064688
- Sponsor
- Medical College of Wisconsin
Breast Cancer
Prospective Observational Study Evaluating Treatment Decision Impact of Prosigna® in Early Stage Breast Cancer Patients
This multicenter, prospectively designed study examines whether the Prosigna score influences physician and patient adjuvant treatment selection over and above currently used prognostic factors.
- Trial name
- NCT02625935
- Where
- 4 sites in United States
- Volunteers
- 206 people
- Sponsor
- NanoString Technologies, Inc.
Mitochondrial Myopathies, Mitochondrial DNA Mutation
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks.
- Conditions
- Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy
- Trial name
- NCT05012358
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Endometrial Neoplasms
Characterization of the Genetic Profile of Type 2 Endometrial Carcinoma in Martinique
In Martinique, about 33 new cases are diagnosed per year, with a high incidence rate of type 2 endometrial carcinoma which has a poor prognosis with few therapeutic options.
- Trial name
- ENDO-NGS-MQ (NCT03766672)
- Testing
- Intervention Arm
- Where
- Martinique
- Volunteers
- 30 people
- Sponsor
- University Hospital Center of Martinique
Osteogenesis Imperfecta
Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients
This study has been planned as part of the Orthofix Srl post-market active surveillance plan for the collection of data on both the clinical performance and the safety profile of the JTIN.
- Trial name
- JTIN (NCT05612139)
- Testing
- JTIN implantation surgery
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Orthofix s.r.l.
Premature Infants, Cerebral Palsy
Interrater Reliability of Infant Motor Profile
The aim of this study is to assess risky infants (or diagnosed infants) with Infant Motor Profile, and analyze interrater and intrarater reliability of this test.
- Conditions
- Premature Infants, Cerebral Palsy, Down Syndrome, Metabolic Disorders
- Trial name
- IMP (NCT03188107)
- Testing
- Video based assessment
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Abant Izzet Baysal University
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
X-Linked Hypophosphatemic Rickets
Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH
X-linked hypophosphataemia (XLH) is a rare genetic disorder associated with increased circulating levels of the hormone FGF23, most commonly through mutation of the PHEX gene.
- Trial name
- FLAM-XLH (NCT06248632)
- Testing
- Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R)
- Volunteers
- 20 people
- Sponsor
- Hospices Civils de Lyon
Hereditary Angioedema
C1 Inhibitor Registry in the Treatment of Hereditary Angioedema (HAE) Attacks
This is a non-interventional treatment Registry of Hereditary Angioedema (HAE) patients treated with C1 inhibitor, either plasma-derived (pdC1INH) or the recombinant human form (rhC1INH / Ruconest), to observe adverse events and…
- Trial name
- NCT01397864
- Testing
- rhC1INH or pdC1INH
- Where
- 17 sites in Bulgaria, Croatia and 11 more
- Volunteers
- 181 people
- Sponsor
- Pharming Technologies B.V.
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