Clinical trials: Genetics Syndrome
Rett Syndrome, Dysbiosis
Protective Role of Pre-/ Post-biotics on Gut Inflammation, Dysbiosis, and Life Quality in Rett Syndrome (Biotics_RTT)
The study will examine the potential efficacy and safety of two pre- and post-biotics on markers for gut inflammation and intestinal microbiota ecology in patients with Rett syndrome.
- Conditions
- Rett Syndrome, Dysbiosis, Epilepsy, Quality of Life
- Trial name
- Biotics_RTT (NCT05420805)
- Testing
- ALAC, inulin, FOS, and sodium butyrate, Sodium butyrate and zinc oxide
- Where
- Italy
- Volunteers
- 28 people
- Sponsor
- Azienda Ospedaliera Universitaria Senese
Cystic Fibrosis
COVID-19 Antibody Responses in Cystic Fibrosis
Coronavirus disease 2019 (COVID-19) which is caused by the virus SARS-CoV-2 has resulted in an ongoing global pandemic. It is unclear whether the relatively low number of reported cases of COVID-19 in people with CF (pwCF) is due…
- Trial name
- CAR-CF (NCT05052294)
- Where
- 2 sites in Czechia
- Volunteers
- 50 people
- Sponsor
- University Hospital, Motol
Metabolism, Inborn Errors
Cardiac Manifestation and Inherited Metabolic Diseases
The aim of this study is to report and describe cardiac manifestations associated with IMD in a cohort of patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2020.
- Trial name
- NCT04999566
- Where
- Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Lausanne
Rheumatoid Arthritis (RA), Gouty Arthritis (GA)
Musculoskeletal Ultrasound for Differentiating Rheumatoid and Gouty Arthritis
Rheumatoid arthritis (RA) and gouty arthritis (GA) are two common forms of joint inflammation that can present with very similar physical symptoms, making them difficult to tell apart early in the disease process.
- Conditions
- Rheumatoid Arthritis (RA), Gouty Arthritis (GA), Gout, Inflammatory Arthritis
- Trial name
- NCT07657156
- Volunteers
- 100 people
- Sponsor
- Assiut University
Sickle Cell Disease
TMLI and Alemtuzumab for Treatment of Sickle Cell Disease
This phase I trial tests the safety and effectiveness of total marrow and lymphoid irradiation (TMLI) and alemtuzumab as a conditioning regimen in patients with sickle cell disease.
- Trial name
- NCT05384756
- Testing
- Alemtuzumab, Hematopoietic Cell Transplantation, Intensity-Modulated Radiation Therapy
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- City of Hope Medical Center
Skin Alterations Associated With Atopic Dermatitis
Sertaconazole 2% Cream to Improve Symptoms Associated With Atopic Dermatitis
Investigation aimed to explore the efficacy of a topical Sertaconazole cream 2% in patients with skin alterations associated with atopic dermatitis
- Trial name
- NCT01792713
- Testing
- Sertaconazole 2% cream
- Where
- 2 sites in Germany
- Volunteers
- 70 people
- Sponsor
- Spirig Pharma Ltd.
Recurrent Colon Cancer, Liver Metastases
Isolated Hepatic Perfusion With Melphalan Followed By Chemotherapy in Treating Patients With Unresectable Colorectal Cancer That is Metastatic to the Liver
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Combining more than one drug and giving them in different ways may kill more tumor cells.
- Conditions
- Recurrent Colon Cancer, Liver Metastases, Stage IV Rectal Cancer, Recurrent Rectal Cancer
- Trial name
- NCT00019760
- Testing
- floxuridine, leucovorin calcium, melphalan
- Where
- United States
- Sponsor
- National Institutes of Health Clinical Center (CC)
Autosomal Dominant Polycystic Kidney
Thyroid Hormones in ADPKD
Autosomal dominant polycystic kidney disease (ADPKD) is a monogenic, rare and life-threatening disease, characterized by the pathological formation of multiple fluid-filled cysts that arise from renal tubules and alter kidney…
- Trial name
- REORIENTED (NCT05646420)
- Testing
- Blood sampling
- Where
- Italy
- Volunteers
- 91 people
- Sponsor
- Mario Negri Institute for Pharmacological Research
Urea Cycle Disorder
Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)
This is a randomized, controlled, open-label parallel arm study to assess the safety, tolerability, pharmacokinetics and ammonia control, of RAVICTI® as compared to Sodium phenylbutyrate (NaPBA) in urea cycle disorder subjects…
- Trial name
- NCT03335488
- Testing
- RAVICTI, NaPBA
- Where
- 11 sites in United States, Italy and 2 more
- Volunteers
- 16 people
- Sponsor
- Amgen
Atopic Dermatitis, Healthy Volunteers
Safety Study of Tezepelumab (AMG 157) in Healthy Adults and Adults With Atopic Dermatitis
This study is a single dose escalation study of tezepelumab (AMG 157) in healthy adults (Part A) and adults with moderate to severe atopic dermatitis (Part B).
- Trial name
- NCT00757042
- Testing
- Tezepelumab
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Amgen
Cystic Fibrosis
Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis?
The study was to evaluate the long term effects, over one year, of five airway clearance techniques used by people with cystic fibrosis (active cycle of breathing techniques, autogenic drainage, positive expiratory pressure and…
- Trial name
- ACT (NCT00890370)
- Testing
- Airway clearance technique
- Volunteers
- 75 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Down Syndrome
Role of Early Motor Experience in Infants With Down Syndrome
Infants with Down syndrome show significant delays and weaknesses in motor, cognitive, and language development compared to typically developing infants.
- Trial name
- NCT05144373
- Testing
- Gross motor intervention, gross and fine motor intervention
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- Georgia State University
Skin Laxity, Meibomian Gland Dysfunction
Evaluation of Ocular Surface Changes Following RF Electrocoagulation Treatment of the Periorbital Region
This protocol will evaluate THERMIeyes® for its ability to treat periorbital skin laxity and wrinkles and monitor ocular surface changes and their effect on evaporative dry eye associated with MGD.
- Trial name
- NCT03280069
- Testing
- THERMIeyes® 20 RF System
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Ophthalmic Consultants of Long Island
Gorlin Syndrome
Efficacy and Safety of Patidegib Gel 2% for Preventing Basal Cell Carcinomas on the Face of Adults With Gorlin Syndrome
The aim of this clinical study is to find out how well Patidegib Gel 2% works in preventing new basal cell carcinomas (BCCs) developing on the face of adults with Gorlin syndrome, and how safe Patidegib Gel 2% is to use.
- Trial name
- NCT06050122
- Testing
- Patidegib Topical Gel, Patidegib Topical Gel with no active patidegib
- Where
- 40 sites in United States, France and 5 more
- Volunteers
- 113 people
- Sponsor
- Sol-Gel Technologies, Ltd.
Muscular Dystrophy, Duchenne
Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety…
- Trial name
- NCT02369731
- Where
- 71 sites in Austria, Brazil and 14 more
- Volunteers
- 316 people
- Sponsor
- PTC Therapeutics
Paralysis, Hyperkalemic Periodic, Hypokalemic Periodic Paralysis
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders
OBJECTIVES: I. Assess the efficacy of dichlorphenamide in the treatment of episodic weakness attacks in patients with hyperkalemic periodic paralysis, paramyotonia congenita with periodic paralysis, and hypokalemic periodic…
- Conditions
- Paralysis, Hyperkalemic Periodic, Hypokalemic Periodic Paralysis, Paramyotonia Congenita
- Trial name
- NCT00004802
- Testing
- dichlorphenamide
- Volunteers
- 64 people
- Sponsor
- National Center for Research Resources (NCRR)
Retinoblastoma, Retinoblastoma, Recurrent
High-dose Topotecan for Retinoblastoma With Recurrent or Refractory Vitreous Seed
Retinoblastoma is the most common intraocular malignancy in infancy and childhood,with an estimated 8000 new cases globally each year.The major cause of failure in the management of retinoblastoma remains the persistence or…
- Trial name
- NCT06972602
- Testing
- Topotecan, Collection of aqueous humor, Electroretinogram
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Eye & ENT Hospital of Fudan University
Multiple Osteochondroma, Enchondromatosis
Survey on Multiple Osteochondromas and Enchondromatoses During the Transition From Paediatric Care to Adult Care
This prospective observational study aims to understand the transition experiences and unmet needs of patients living with multiple osteochondromas or enchondromatoses during the paediatric to adult care, in order to produce a…
- Trial name
- PJMOE (NCT07839637)
- Where
- Italy
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Istituto Ortopedico Rizzoli
Tuberous Sclerosis Complex
Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)
Tuberous Sclerosis Complex (TSC) is a multi-system disease, usually presenting with seizures, mental retardation and autism, and exhibiting a high variability in clinical findings both among and within families.
- Trial name
- TSC (NCT01289912)
- Testing
- RAD001
- Where
- 2 sites in United States
- Volunteers
- 52 people
- Sponsor
- Mustafa Sahin
C1 Esterase Inhibitor Deficiency, Angio Edema
Biomarker for Hereditary AngioEdema Disease
International, multicenter, observational, longitudinal monitoring study to identify, validate and/or monitor Mass Spectrometry (MS)-based biomarker/s for Hereditary Angioedeme (HAE) disease and to test the clinical robustness…
- Conditions
- C1 Esterase Inhibitor Deficiency, Angio Edema, C4 Deficiency, HAE
- Trial name
- BioHAE (NCT03029728)
- Where
- 7 sites in Armenia, Georgia and 5 more
- Volunteers
- 42 people
- Sponsor
- CENTOGENE GmbH Rostock