Clinical trials: Multiple Congenital Anomaly
Friedreich Ataxia
Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia
The purpose of this study is to evaluate the efficacy of TAK-831 versus placebo on upper extremity (arm and hands) motor function and manual dexterity.
- Trial name
- NCT03214588
- Testing
- TAK-831
- Where
- 6 sites in United States
- Volunteers
- 67 people
- Sponsor
- Neurocrine Biosciences
DiGeorge Syndrome, Hypoparathyroidism
Parathyroid and Thymus Transplantation in DiGeorge #931
This study has three primary purposes: to assess parathyroid function after parathyroid transplantation in infants with Complete DiGeorge syndrome; to assess immune function development after transplantation; and, to assess…
- Conditions
- DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
- Trial name
- NCT00566488
- Testing
- Thymus/Parathyroid Transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Atopic Dermatitis
A Phase 1b Study Assessing the PK, PD, Safety & Tolerability of SB414 in Atopic Dermatitis
This is a Phase 1b, 2-week study assessing the pharmacokinetics, pharmacodynamics, safety and tolerability of SB414 in subjects with mild to moderate AD.
- Trial name
- NCT03431610
- Testing
- SB414 2%, SB414 6%, Vehicle
- Where
- 9 sites in United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Novan, Inc.
Hepatitis B Infection, Congenital Malformation
Tenofovir Disoproxil Fumarate in Combination of Hepatitis B Vaccine for Preventing Hepatitis B Vertical Transmission
Immunoprophylaxis with two hepatitis B vaccinations following the hepatitis B immune globulin (HBIg) and hepatitis B vaccine at birth is largely effective in protecting infants from hepatitis B virus (HBV) infection.
- Conditions
- Hepatitis B Infection, Congenital Malformation, Birth Defect, Viremia
- Trial name
- NCT03476083
- Testing
- Tenofovir Disoproxil Fumarate (TDF) 300 mg oral daily.
- Where
- 7 sites in China
- Volunteers
- 280 people
- Sponsor
- New Discovery LLC
Down Syndrome
Liq-NOL Efficacy in Pediatric Patients With Down Syndrome
The purpose of this study is to measure the effects of LiQ-NOL supplementation on language production using the Clinical Evaluation of Language Fundamentals test, language sampling using the mean length of utterance test, and…
- Trial name
- NCT00891917
- Testing
- Ubiquinol-10 Syrup
- Where
- United States
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Irritable Bowel Syndrome, Digestive System Diseases
Efficacy of a Multi-strain Probiotic in the Treatment of Irritable Bowel Syndrome (IBS)
The Canadian College of Naturopathic Medicine is conducting a research study on Irritable Bowel Syndrome (IBS), a common condition in North America.
- Conditions
- Irritable Bowel Syndrome, Digestive System Diseases, Colonic Diseases, Functional, Colitis, Mucous
- Trial name
- NCT01176227
- Testing
- Kyodophilus multi-strain probiotic capsules
- Where
- Canada
- Volunteers
- 128 people
- Sponsor
- The Canadian College of Naturopathic Medicine
Basal Cell Nevus Syndrome
Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome (Gorlin Syndrome)
This is a global, multicenter, randomized, double-blind, stratified, vehicle-controlled study of the efficacy and safety of Patidegib Topical Gel, 2%, applied topically twice daily to the face of adult participants with Gorlin…
- Trial name
- NCT03703310
- Testing
- Patidegib Topical Gel, 2%, Patidegib Topical Gel, Vehicle
- Where
- 49 sites in United States, Belgium and 8 more
- Volunteers
- 174 people
- Sponsor
- Sol-Gel Technologies, Ltd.
GDM, Preterm Preeclampsia
Advancing Stillbirth Prevention Through Innovative Risk Evaluation (ASPIRE) Clinical Study
ASPIRE will be a multi-site, prospective, two-part longitudinal, noninterventional observational cohort study of nulliparous singleton pregnant women to evaluate biomarkers from blood and ocular imaging for prediction of…
- Conditions
- GDM, Preterm Preeclampsia, Preeclampsia, Fetal Growth Restriction (FGR)
- Trial name
- ASPIRE (NCT07669935)
- Testing
- None (this is an observational study with no intervention)
- Where
- 2 sites in United States
- Volunteers
- 5,500 people, healthy volunteers welcome
- Sponsor
- Medicines360
Cystic Fibrosis
Characterization of Pulmonary Microbiome in Cystic Fibrosis Patients
The composition and role of the pulmonary microbiota is not yet well described in cystic fibrosis patients. The objective of our longitudinal follow-up of primary colonised patients is to show the presence of a link between the…
- Trial name
- SPutOM-CF (NCT04735679)
- Where
- France
- Volunteers
- 250 people
- Sponsor
- University Hospital, Montpellier
Neuroblastoma
4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma
The purpose of this clinical trial is to assess the feasibility, safety and efficacy of multiple 4SCAR-T cell therapy which targets GD2, PSMA and CD276 surface antigens in patients with relapsed and refractory neuroblastoma (NB).
- Trial name
- NCT04637503
- Testing
- GD2, PSMA and CD276 CAR-T cells
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Rubinstein-Taybi Syndrome
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit.
- Trial name
- GENEPI (NCT04122742)
- Testing
- skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included., Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy, Histone acetylation profiles of cells of SRT patients with CREBBP mutations
- Where
- France
- Volunteers
- 154 people
- Sponsor
- University Hospital, Bordeaux
Pachyonychia Congenita
Safety, Tolerability, and Efficacy of Oral KM-023 in Adult Patients With Pachyonychia Congenita (pEDD-PC)
The goal of this clinical trial is to learn if KM-023 is safe and well tolerated in adults with Pachyonychia Congenita (PC). The study will also explore whether KM-023 may help reduce pain, improve mobility, and lessen the impact…
- Trial name
- NCT07893483
- Testing
- KM-023
- Where
- 2 sites in Israel
- Volunteers
- 10 people
- Sponsor
- Orvida Pharma (formerly Kamari Pharma)
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Von Hippel-Lindau Disease, Genetic Disorder
Promoting Stress Management and Resilience Among Individuals With Von Hippel- Lindau Disease
The Relaxation Response Resiliency Program (3RP) has shown efficacy in improving coping and resilience across diverse populations; however, little is known about how it helps individuals manage the challenges of living with a…
- Trial name
- NCT05737602
- Testing
- 3RP-VHL
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Massachusetts General Hospital
Depression, Men
The Effects of E-mental Health Program and Job Coaching on the Risk of Major Depression in Canadian Working Men
There is a pressing need for innovation in prevention of major depression in male workers. Major depression (MDE) affects workers' health and productivity.
- Trial name
- NCT02777112
- Testing
- e-mental health program, e-mental health program and job coaching, No intervention
- Where
- Canada
- Volunteers
- 1,133 people
- Sponsor
- University of Calgary
Sleep Disorders
Study to Investigate Safety, Tolerability, Pharmacokinetics and Cardiac Function After Repeat Doses of SB-649868 in Healthy-volunteers
The purpose of this study is to determine whether SB-649868 is safe, tolerable after repeated administrations in adult and elderly healthy volunteers. Pharmacokinetics and effects on cardiac function of repeated doses are studied
- Trial name
- NCT01030939
- Testing
- SB-649868
- Where
- Germany
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Autosomal Dominant Polycystic Kidney Disease
Analysis of Clinical and Molecular Genetic Data Influencing the Evolution and Response to Therapy of ADPKD Patients (Autosomal Dominant Polycystic Kidney Disease)
Genkyst is a regional cohort involving up to nephrologists working in private and public nephrology centers in the West of France.
- Trial name
- GENKYST (NCT02887729)
- Where
- 26 sites in France
- Volunteers
- 4,000 people
- Sponsor
- University Hospital, Brest
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet Plus Ganciclovir in the Treatment of Cytomegalovirus of the Eye in Patients With AIDS Who Have Already Been Treated With Ganciclovir
To examine the safety and tolerance of the administration of ganciclovir and foscarnet given together or alternately; to determine the interactive pharmacokinetics (blood level) profile of long-term combined and alternating…
- Trial name
- NCT00000970
- Testing
- Foscarnet sodium, Ganciclovir
- Where
- 6 sites in United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Pachyonychia Congenita
A Study Evaluating the Safety and Pharmacokinetics of QTORIN Rapamycin 3.9% Anhydrous Gel in the Treatment of Adults With Pachyonychia Congenita
PALV-08 is a multicenter, open-label treatment (OLT) study enrolling adults with Pachyonychia Congenita (PC) with genotyped keratin mutations KRT6A, KRT6B, KRT6C or KRT16 who were previously enrolled in the PALV-05 (VAPAUS)…
- Trial name
- NCT05643872
- Testing
- PTX-022
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Palvella Therapeutics, Inc.
Tuberous Sclerosis, Epilepsy
Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases
Tuberous sclerosis complex (TSC), affecting 1 in 6.000 live births, is characterized by the development of multisystem tumors. Seizures are frequent up to 80% of individuals.
- Trial name
- EPISTOPIDEAL (NCT05199402)
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Imagine Institute