Clinical trials: Genetic Variation
Down Syndrome
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population.
- Trial name
- Colibri (NCT05767216)
- Testing
- Biological sampling
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Institut Jerome Lejeune
Blastomycosis
Evaluation of the Association of Polymorphisms in the Innate Immune System With the Risk for Blastomycosis Dermatitidis Infection in Patients Not Infected With HIV and Complications Associated With Blastomycosis Dermatitidis Infection
Innate immunity plays an important role for fungal recognition and initiation of fungicidal activity. We hypothesize that subtle differences in different molecules of innate immunity may contribute to either the predisposition or…
- Trial name
- NCT00001702
- Where
- 2 sites in United States
- Volunteers
- 400 people
- Sponsor
- National Cancer Institute (NCI)
Drug Distribution
Statin Distribution
Anticipating an increased use of statins in children and adolescents, it is imperative that we understand the genetic and developmental characteristics affecting the pharmacokinetics and pharmacodynamics of statins in childhood…
- Trial name
- NCT02360826
- Testing
- Pravastatin, Simvastatin
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
Thromboembolic Events
Association of Genetic Variants With Risk of Stroke in Patients With Atrial Fibrillation Off-anticoagulation
Life-long therapy with oral anticoagulants (OAC) is strongly recommended in AF patients receiving left atrial appendage isolation (LAAI) to prevent thromboembolic (TE) events.
- Trial name
- GSAF (NCT04115436)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Texas Cardiac Arrhythmia Research Foundation
Neurofibromatosis Type 1, Legius Syndrome
Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)
This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others.
- Trial name
- NCT00111384
- Where
- United States
- Volunteers
- 313 people
- Sponsor
- National Cancer Institute (NCI)
Hidradenitis Suppurativa
Defects of Keratinocytes Function in Dermatologic Patients
NOTCH signaling in the skin exerts a pivotal role in the regulation of normal keratinocytes turnover by mediating the balance between proliferation, differentiation, apoptosis and autophagic flux progression.
- Trial name
- NCT06324552
- Where
- 15 sites in Austria, Belgium and 4 more
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- IRCCS Burlo Garofolo
Medication Adherence, Medication Reaction
Taste of Medicines in Children
Some but not all children will refuse to take medicine because of its taste, which can lead to substantial worsening of disease, antibiotic resistance, increased health care costs, and even death.
- Trial name
- NCT04220918
- Where
- United States
- Volunteers
- 136 people
- Sponsor
- Children's Hospital of Philadelphia
Failure of Dental Implant Due to Infection, Infection
Regenerative Surgical Treatment of Peri-implantitis
The purpose of the study is to evaluate if surgical treatment of peri-implantitis with enamel matrix derivative (Emdogain®, EMD) will have an additional effect on the healing outcome, changes in the peri-implant microflora and on…
- Conditions
- Failure of Dental Implant Due to Infection, Infection, Inflammation, Peri-implantitis
- Trial name
- NCT02500654
- Testing
- Emdogain®, Surgery alone
- Where
- Sweden
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Catrine Isehed
Hypochondroplasia
Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia
Phase 2, multicenter, OLE study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR (fibroblast growth factor receptor) 1-3-selective tyrosine kinase inhibitor, in participants with…
- Trial name
- NCT07393373
- Testing
- Infigratinib
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 135 people
- Sponsor
- QED Therapeutics, a BridgeBio company