Clinical trials: Syndrome X
Rett Syndrome
The Rett Syndrome Global Registry
The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome.
- Trial name
- NCT04900493
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Rett Syndrome Research Trust
Fragile x Syndrome
Ganaxolone Treatment in Children With Fragile X Syndrome
This Phase 2 proof-of-concept study is a double-blind, randomized, placebo-controlled, crossover study to investigate ganaxolone treatment in children with fragile x syndrome (FXS).
- Trial name
- NCT01725152
- Testing
- Ganaxolone
- Where
- 2 sites in United States, Belgium
- Volunteers
- 59 people
- Sponsor
- Marinus Pharmaceuticals
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Upper Extremity Impairments, Cerebral Palsy (CP)
Obi Medical Robot: Evaluating Effectiveness Related to Usability
This mixed-methods usability study evaluates the effectiveness of the Obi Gen 3 robotic feeding device in meeting user needs among providers, caregivers, and patients.
- Conditions
- Upper Extremity Impairments, Cerebral Palsy (CP), ALS - Amyotrophic Lateral Sclerosis, Rett Syndrome
- Trial name
- NCT07151950
- Testing
- One-week trial of Obi Medical device, which provides robotic assistance with feeding to persons with upper extremity impairments who are unable to self-feed in the traditional manner using utensils
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Desin LLC
Chronic Granulomatous Disease
Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease
The overall goal of the study is to investigate the functional, biochemical, and gene expression effects of Interferon-gamma 1-b (IFN-γ) on the neutrophils of patients with Chronic Granulomatous Disease (CGD).
- Trial name
- NCT03548818
- Testing
- Interferon Gamma-1B
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Colorado, Denver
Rett Syndrome
Metabolic Evaluation of Nutrition in Rett Syndrome
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The pathological mechanism is barely understood.
- Trial name
- NCT00786071
- Where
- Netherlands
- Volunteers
- 13 people
- Sponsor
- Maastricht University Medical Center
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
Hepatitis B, HIV Infection
Adefovir Dipivoxil to Treat Hepatitis B in HIV-Infected Patients
This study will evaluate the safety and effectiveness of adding the experimental drug adefovir dipivoxil to lamivudine for treating hepatitis B virus (HBV) infection in HIV-infected patients with liver cirrhosis.
- Trial name
- NCT00013702
- Testing
- Adefovir
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Angina Pectoris, Microvascular Angina
Angina in Non Coronary Artery Disease
Many patients undergoing coronary angiography are found to have no significant coronary artery disease (CAD) despite angina equivalent symptoms and/or electrocardiographic abnormalities suggestive of myocardial ischemia.
- Conditions
- Angina Pectoris, Microvascular Angina, Angina Pectoris, Variant
- Trial name
- HeartQuest (NCT01318629)
- Where
- Switzerland
- Volunteers
- 718 people
- Sponsor
- Luzerner Kantonsspital
Fragile X Syndrome
Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome
The purpose of this study is to determine whether Lovastatin, Minocycline and the combination Lovastatin/Minocycline are effective in treating behavioral symptoms in Fragile X individuals.
- Trial name
- LovaMiX (NCT02680379)
- Testing
- Minocycline, then Minocycline/Lovastatin, Lovastatin, then Minocycline/Lovastatin
- Where
- Canada
- Volunteers
- 22 people
- Sponsor
- Université de Sherbrooke
Mitochondrial Diseases, Barth Syndrome
An Intermediate Size Expanded Access Protocol of Elamipretide
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program.
- Trial name
- NCT04689360
- Testing
- elamipretide
- Sponsor
- Stealth BioTherapeutics Inc.
X-linked Lymphoproliferative Syndrome Type 2 (XLP-2)
A Single-patient Clinical Trial of MAS825 in a Patient With XIAP Deficiency
MAS825 is a bi-specific IgG1 monoclonal antibody that simultaneously targets IL-1 beta and IL-18, thereby neutralizing both cytokines that are thought to be integral to the pathogenesis of XLP-2.
- Trial name
- NCT06309823
- Testing
- MAS825
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- The Hospital for Sick Children
Myocardial Infarction, Gender
Barts-MINOCA Registry
The last 15 years the introduction of primary angioplasty has radically improved outcomes for acute myocardial infarction (AMI).
- Conditions
- Myocardial Infarction, Gender, Coronary Microvascular Disease
- Trial name
- NCT04440761
- Testing
- Observation only
- Where
- United Kingdom
- Volunteers
- 3,000 people
- Sponsor
- Queen Mary University of London
Severe Combined Immunodeficiency, X-Linked
Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency
Severe combined immunodeficiency disorder (SCID) is a heterogeneous group of inherited disorders characterized by a profound reduction or absence of T lymphocyte function, resulting in lack of both cellular and humoral immunity.
- Trial name
- NCT03601286
- Testing
- Lentiviral vector transduced CD34+ cells
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR)
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and…
- Trial name
- cureMILS (NCT06967831)
- Testing
- skin biopsy, generation of iPSCs, blood drawing
- Where
- 2 sites in Germany
- Volunteers
- 80 people
- Sponsor
- Charite University, Berlin, Germany
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Rett Syndrome
A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.
- Trial name
- NCT05898620
- Testing
- NGN-401
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 33 people
- Sponsor
- Neurogene Inc.
Chronic Granulomatous Disease
Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD)
The purpose of this study is to find a dose for a twice daily regimen for posaconazole (PSZ) as prophylactic treatment in children with CGD, based on the PSZ trough level.
- Trial name
- iPOD (NCT00799071)
- Testing
- posaconazole (PSZ)
- Where
- 2 sites in Netherlands
- Volunteers
- 12 people
- Sponsor
- Radboud University Medical Center
Granulomatous Disease, Chronic, X-linked, Variant
Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD)
Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which patients suffer from severe infection and inflammation. The first indication of disease usually appears in early childhood.
- Trial name
- NCT01381003
- Testing
- pCCLchimGp91s lentiviral vector transduced CD34+ cells infusion
- Where
- United Kingdom
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust