Clinical trials: X-Linked
Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder
Neurologic Injuries in Adults With Urea Cycle Disorders
Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common types of UCD.
- Conditions
- Brain Diseases, Metabolic, Inborn, Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
- Trial name
- NCT00472732
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman
Hemophilia B
Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients
Based on the finding that anaphylactic reactions to Benefix ("FIX") are associated with a specific IgE, a Basophil histamine release assay was selected to evaluate and demonstrate subject sensitization to FIX.
- Trial name
- NCT00244114
- Testing
- blood draw
- Volunteers
- 20 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Rett Syndrome, RTT
Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome
To evaluate the efficacy of cannabidiol oral solution (GWP42003-P, CBD-OS) in reducing symptom severity when compared with placebo, in participants with Rett syndrome.
- Trial name
- ARCH (NCT03848832)
- Testing
- GWP42003-P
- Where
- 26 sites in United States, Italy and 2 more
- Volunteers
- 29 people
- Sponsor
- Jazz Pharmaceuticals
Haemophilia B
Post-marketing Surveillance (Use Result Surveillance) With Refixia®
The participants are invited to take part in this study because they have Haemophilia B. The purpose of this study is to assess the safety and effectiveness of Refixia® about long-term routine use in patients with Haemophilia B.
- Trial name
- NCT03875547
- Testing
- Refixia®
- Where
- 23 sites in Denmark, Japan
- Volunteers
- 28 people
- Sponsor
- Novo Nordisk A/S
Duchenne Muscular Dystrophy
Analysis of a Virtual Reality Task in Patients With Duchenne Muscular Dystrophy
The task consists in reach as much bubbles as they can, the bubbles appear on the screen of the computer and should be reached in 10 seconds.
- Trial name
- NCT02891434
- Testing
- Acquisition on TouchScreen, Acquisition on Kinect, Acquisition on LeapMotion
- Where
- Brazil
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Adrenomyeloneuropathy, Adrenoleukodystrophy
Plasma Exchange With Albumin in AMN Patients
Adrenoleukodystrophy (X-ALD) is the most common genetic disorder of the brain white matter with an incidence of 1:14,700 births.
- Trial name
- NCT04303416
- Testing
- Albumin solution
- Where
- Spain
- Volunteers
- 5 people
- Sponsor
- Pujol, Aurora, M.D.
Duchenne Muscular Dystrophy (DMD)
Study of Eteplirsen in DMD Patients
The main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51.
- Trial name
- PROMOVI (NCT02255552)
- Testing
- eteplirsen
- Where
- 37 sites in United States
- Volunteers
- 109 people
- Sponsor
- Sarepta Therapeutics, Inc.
Esophageal Cancer
Outside the Cage (OTC) Robotic Esophagectomy
The goal of this clinical trial is to evaluate the feasibility and safety of a novel non-intercostal robotic approach for minimally invasive esophagectomy (OTC MIE) in the treatment of esophageal cancer.
- Trial name
- NCT06735638
- Testing
- OTC MIE Esophagectomy
- Where
- Canada
- Volunteers
- 31 people
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Fragile X Syndrome
AFQ056 for Language Learning in Children With FXS
The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).
- Trial name
- FX-LEARN (NCT02920892)
- Testing
- AFQ056, Language Intervention
- Where
- 14 sites in United States
- Volunteers
- 110 people
- Sponsor
- Elizabeth Berry-Kravis
Primary Immunodeficiencies, APECED
Participation in a Research Registry for Immune Disorders
Background: People with primary immune deficiency diseases (PIDD) have weak immune systems. This makes it hard for their bodies to fight infection.
- Conditions
- Primary Immunodeficiencies, APECED, CGD, Wiskott-Aldrich Syndrome
- Trial name
- NCT01953016
- Where
- United States
- Volunteers
- 716 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Analgesia
A Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol Formulations
A study investigating the pharmacokinetic profiles of four extended release paracetamol formulations
- Trial name
- NCT01568749
- Testing
- Paracetamol, Paracetamol formulation 1, Paracetamol Formulation 2
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Hypohidrotic Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey
In this survey of X-Lined Hypohidrotic Ectodermal Dysplasia (XLHED) carrier females, Edimer proposes to review responses to an XLHED Carrier Outlook toward Reproduction Survey in order to understand attitudes toward reproduction…
- Trial name
- X-CORS (NCT01398813)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Edimer Pharmaceuticals
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation
Rett Syndrome
Telehealth Support to Increase Physical Activity in Rett Syndrome
This study will recruit families with a daughter with Rett syndrome living in either Australia, Denmark or Israel, and thereafter deliver individually designed participation programs using telehealth strategies.
- Trial name
- ActivRett (NCT04167059)
- Testing
- Telehealth-delivered participation strategies to increase physical activity
- Where
- 2 sites in Denmark, Israel
- Volunteers
- 60 people
- Sponsor
- Telethon Kids Institute
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP
To investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, itching, or stinging) associated with sunlight exposure in adults and adolescents with EPP or XLP.
- Trial name
- INSPIRE (NCT06144840)
- Testing
- Dersimelagon
- Where
- 35 sites in United States, Australia and 9 more
- Volunteers
- 165 people
- Sponsor
- Tanabe Pharma America, Inc.
Hemophilia a, Hemophilia B
The Efficacy and Safety of SerpinPC in Participants with Severe Hemophilia a or Moderately Severe to Severe Hemophilia B
The purpose of the study is to evaluate the efficacy, safety, tolerability and pharmacokinetics of prophylactic SerpinPC administered subcutaneously (SC) to participants with severe hemophilia A (HemA) (with or without…
- Trial name
- PRESent-2 (NCT05789524)
- Testing
- SerpinPC
- Where
- 59 sites in United States, Armenia and 13 more
- Volunteers
- 60 people
- Sponsor
- ApcinteX Ltd
X-linked Hypophosphatemia, Hypophosphatemic Rickets
X-linked Hypophosphatemia Disease Monitoring Program
The objectives of this observational study are to characterize XLH disease presentation and progression and to assess long-term effectiveness and safety of burosumab.
- Trial name
- NCT03651505
- Testing
- No intervention
- Where
- 38 sites in United States, Argentina and 4 more
- Volunteers
- 782 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified
Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
The purpose of this study is to determine whether bilateral orthotopic lung transplantation (BOLT) followed by cadaveric partially-matched hematopoietic stem cell transplantation (HSCT) is safe and effective for patients aged…
- Conditions
- Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified, Severe Chronic Neutropenia, Chronic Granulomatous Disease (CGD)
- Trial name
- BOLT+BMT (NCT01852370)
- Testing
- CD3/CD19 negative allogeneic hematopoietic stem cells
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Paul Szabolcs
Breast Cancer
Prevention of Breast Cancer: As Simple as hCG-A Randomized Clinical Trial in High Risk Women
The purpose of the study is to evaluate whether hCG will result in a decrease in breast density. High breast density has been associated with an increased risk in breast cancer.
- Trial name
- NCT00808522
- Testing
- hCG
- Where
- United States
- Volunteers
- 84 people
- Sponsor
- New York Presbyterian Hospital
Cystic Fibrosis, Pseudohypoaldosteronism
Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
Healthy volunteers and patients with diseases that involve problems clearing mucus from the lungs will be examined and tested to better understand the reasons for recurring lung infections in these patients and to try to develop…
- Conditions
- Cystic Fibrosis, Pseudohypoaldosteronism, Nontuberculous Mycobacterial Infection, Chronic Granulomatous Disease
- Trial name
- NCT00368446
- Where
- United States
- Volunteers
- 87 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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