Clinical trials: Birth Defects
Hereditary Hemorrhagic Telangiectasia
Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT)
Hereditary hemorrhagic telangiectasia (HHT) results from genetic deregulation of angiogenesis. It is characterized by mucocutaneous telangiectasia responsible for recurrent epistaxis affecting quality of life (anaemia, iron…
- Trial name
- TangRO (NCT03572556)
- Testing
- Blood samples, Epistaxis charts
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire Dijon
Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type I
Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health.
- Trial name
- PSYSMA (NCT07208903)
- Testing
- focus group discussions, Interview with the psychologist
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Ornithine Transcarbamylase Deficiency
A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects
The objective of the study is to characterize 24-hour plasma ammonia levels, characterize urea production rates in healthy normal subjects.
- Trial name
- NCT04269122
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Ultragenyx Pharmaceutical Inc
Atopic Dermatitis
Impact of the Daily Use of Emollient on Corticosteroids Consumption in Patients With Atopic Dermatitis
This study aims at assessing the reduction of consumption of corticosteroids (same mid-potent corticosteroids for all patients) afforded by the use of a specific emollient in comparison to the usual one in subjects suffering from…
- Trial name
- NCT05644691
- Testing
- Lipikar Baume AP+M, Usual emollient
- Where
- Slovakia
- Volunteers
- 119 people, healthy volunteers welcome
- Sponsor
- Cosmetique Active International
Healthy
A Study to Learn How Different Amounts of the Study Medicine Called PF-08049820 Are Tolerated and Act in the Body in Healthy Adults
The purpose of this study is to learn about the safety of the study medicine called PF-08049820 in healthy adults. The study will also see: how the body processes the study medicine and if food affects the amount of study…
- Trial name
- NCT06686797
- Testing
- PF-08049820
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Pfizer
Thalassemia, Brain Function (Measured by ERP Level)
A Case Control Study to Evaluate the Cognitive and Brain Function of β-thalassemia Patients.
β-thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains.
- Trial name
- NCT01935661
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- HaEmek Medical Center, Israel
Chiari Malformations
Dynamic MRI and Quantitative MR CSF Flow Studies in Craniovertebral Junction Anomalies
The purpose of this study is to decide which position of the neck affects cerebral spinal fluid (CSF) flow between the spinal cord and the brain.
- Trial name
- NCT00795080
- Testing
- Dynamic cervical MRI scans
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Huntington Disease, Hereditary Breast and Ovarian Cancer
Genetic Risk: Whether, When, and How to Tell Adolescents
This study is being conducted to learn more about family communication of genetic risk information. Semi-structured interviews lasting up to one hour will be conducted with three populations: parent/child pairs at risk for…
- Conditions
- Huntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer
- Trial name
- NCT03421327
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Polycystic Ovary Syndrome
Treating Inflammation in Polycystic Ovary Syndrome to Ameliorate Ovarian Dysfunction
Polycystic Ovary Syndrome (PCOS) is characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovaries. Insulin resistance (IR) is a common feature of PCOS, and the resultant hyperinsulinemia is theorized to promote…
- Trial name
- TIN-PCOS-AOD (NCT03229408)
- Testing
- Salsalate
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Lymphoma, Leukemia
Transfer of Effector Memory T Cells (Tem) Following Allogeneic Stem Cell Transplantation
RATIONALE: Following stem cell transplantation, a major risk is graft-versus-host disease (GVHD). This occurs when donor immune cells that have been infused recognise the host's cells as 'foreign' and attack these cells.
- Conditions
- Lymphoma, Leukemia, Myeloma, Myelodysplastic Syndromes
- Trial name
- ToTem (NCT03836690)
- Testing
- CD62L- Tem
- Where
- United Kingdom
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University College, London
Tourette Syndrome
Atomoxetine in Patients With Tourette's Syndrome
The purpose of this pilot study is to evaluate the effects of Atomoxetine, a selective noradrenaline reuptake inhibitor, on impulsivity in patients with Tourette's syndrome.
- Trial name
- ATO-TS (NCT04354103)
- Testing
- Atomoxetine
- Where
- 3 sites in France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Poitiers University Hospital
Asphyxia Neonatorum
Asphyxia Associated Metabolite Biomarker Investigation (AAMBI)
Verification of biomarkers in a human population for their ability to diagnose the severity of neonatal asphyxia. These biomarkers linked to asphyxia have been identified in animal studies.
- Trial name
- AAMBI (NCT03354208)
- Testing
- blood sampling
- Where
- 4 sites in Turkey (Türkiye)
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Life Science Inkubator
Labor Onset and Length Abnormalities, Pregnancy Related
LaPPS: Labor Podcast for Patient Satisfaction
Patients will be enrolled at 28w0d-36w0d. Randomized to one of two arms: 1. Labor podcasts - Seven labor podcasts that can be downloaded for any podcast app 2. Usual care
- Trial name
- LaPPS (NCT04933708)
- Testing
- Labor Podcast
- Where
- United States
- Volunteers
- 201 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Other Diseases or Conditions
Mother-caregivers of Children With Duchenne Muscular Dystrophy
The incidence of Duchenne Muscular Dystrophy (DMD) is approximately 1 in 3.500 male newborns. During its progression there is loss of mobility, swallowing difficulties and a significant reduction in respiratory capacity.
- Trial name
- DMDK (NCT01921374)
- Testing
- sleep parameters, Hormonal profile, Inflammatory profile
- Where
- Brazil
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Monica Levy Andersen
Vitiligo, Skin Abnormalities
How Does Skin Tone Affect Quantitative Photoacoustic Imaging
Photoacoustic imaging (PAI) is an emerging method which combines light and ultrasound to assess the blood content and oxygenation of the body.
- Trial name
- PAISKINTONE (NCT05554523)
- Testing
- Photoacoustic imaging
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- University of Cambridge
Skin Laxity
The INFORM Study: Rotational Fractional Resection for Submental Contouring
Efficacy and safety of Rotational Fractional Resection (skin resection) in patients with moderate to severe submental skin laxity.
- Trial name
- NCT03853980
- Testing
- Focal Contouring System
- Where
- 14 sites in United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Recros Medica, Inc.
Skin Lax and Muscle Strength
Combined Treatment Sofwave and Pure Impact to Strength and Tone Muscles and Improve Lax Skin Appearance
Open-label, non-randomized, prospective, multi-center, self-controlled clinical study.
- Trial name
- NCT06724146
- Testing
- Sofwave and Pure Impact
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
Cystic Fibrosis
Effect of Vanzacaftor/Tezacaftor/Deutivacaftor (VNZ/TEZ/D-IVA) on the PK of Rosuvastatin in Healthy Participants
The purpose of this study is to evaluate the effect of multiple doses of vanzacaftor/tezacaftor/deutivacaftor (VNZ/TEZ/D-IVA) on the PK of rosuvastatin and the safety and tolerability of coadministration of VNZ/TEZ/D-IVA with…
- Trial name
- NCT07349394
- Testing
- VNZ/TEZ/D-IVA, Rosuvastatin
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Infantile Colic
Evaluation of Safety and Efficacy of New Infant Formula in Infantile Colic
The study is conducted to examine the safety and efficacy of a new infant formula and its effects on the gastrointestinal tolerance in infants suffering from colic.
- Trial name
- Coco (NCT01721850)
- Testing
- control formula, intervention formula 1, intervention formula 2
- Where
- 18 sites in Germany, Italy
- Volunteers
- 169 people, healthy volunteers welcome
- Sponsor
- HiPP GmbH & Co. Vertrieb KG