Clinical trials: Rare Genetic Disorders
Choroideremia
Natural Disease Progression in Participants With Choroideremia
The primary objective of this study is to quantify disease progression measured by best corrected visual acuity (BCVA) in the real-world setting among Choroideremia (CHM) participants.
- Trial name
- NCT04795206
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 1,178 people
- Sponsor
- Biogen
Telangiectasia, Hereditary Hemorrhagic
Studies of Hereditary Hemorrhagic Telangiectasia
OBJECTIVES: I. Examine screening modalities for pulmonary vascular arteriovenous malformation (PAVM) in individuals with endoglin mutations. II.
- Trial name
- NCT00004648
- Volunteers
- 65 people
- Sponsor
- National Center for Research Resources (NCRR)
Genetic Disease
Genetic Studies in the Amish and Mennonites
The purposes of this study are to identify the genes responsible for several inherited disorders commonly seen in the Amish and Mennonite populations and learn more about the natural history (medical problems that develop over…
- Trial name
- NCT00359580
- Where
- 2 sites in United States
- Volunteers
- 157 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Early Onset Genetic Conditions With Near Complete Penetrance
Genomic Uniformed-Screening Against Rare Disease In All Newborns
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening.
- Trial name
- GUARDIAN (NCT05990179)
- Testing
- Genome sequencing-based newborn screening
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Thoracic Aortic Aneurysm (TAA)
Genetic Aortic Diseases and Cardiovascular Complications. An Observational Survey of Risk Factors.
The aim of this observational study is to define the behavioural and cardiovascular risk factor profiles of patients with genetic aortopathies.
- Trial name
- PROM-1 (NCT07391293)
- Testing
- Journey to diagnosis, Quality of life, functional health and well-being, Awareness and self-esteem, acceptance of the condition
- Where
- Italy
- Volunteers
- 208 people
- Sponsor
- IRCCS Policlinico S. Donato
Epidermolysis Bullosa Simplex
Injections of Botulinic Toxin in Plantar Lesions of Localized Epidermolysis Bullosa Simplex
The investigators hypothesize that palmar injections of botulinic toxin, via an inhibition of the sudation, would limit the occurrence of blisters in localized epidermolysis bullosa simplex (LEBS).
- Trial name
- EBTox (NCT03453632)
- Testing
- Botulinic toxin
- Where
- 4 sites in France
- Volunteers
- 18 people
- Sponsor
- University Hospital, Toulouse
Amino Acid Metabolism, Inborn Errors
Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders
OBJECTIVES: I. Assess the safety and efficacy of sodium phenylbutyrate, sodium benzoate, sodium phenylacetate, and dietary intervention in patients with urea cycle disorders.
- Trial name
- NCT00004767
- Testing
- Sodium Benzoate, Sodium Phenylacetate, Sodium Phenylbutyrate
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Hereditary Hemorrhagic Telangiectasia
Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia
OBJECTIVES: I. Evaluate migraine prophylaxis with soy protein isolate in patients with hereditary hemorrhagic telangiectasia. II.
- Trial name
- NCT00004654
- Testing
- soy protein isolate
- Volunteers
- 60 people
- Sponsor
- National Center for Research Resources (NCRR)
Primary Hyperoxaluria, Cystinuria
Health-related Quality of Life in Rare Kidney Stone
Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium
- Conditions
- Primary Hyperoxaluria, Cystinuria, Adenine Phosphoribosyl Transferase Deficiency, Dent Disease
- Trial name
- NCT02124395
- Testing
- Health-related Quality of Life in Rare Kidney Stone Questionnaire
- Where
- 3 sites in United States, Iceland
- Volunteers
- 365 people
- Sponsor
- NYU Langone Health
Genetic Rare Disease
Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD
To evaluate the outcome of hematopoietic stem cell transplantation using targeted busulfan, fludarabine conditioning regimen in genetic rare disease
- Trial name
- NCT02034630
- Testing
- Busulfan
- Where
- South Korea
- Volunteers
- 5 people
- Sponsor
- Seoul National University Hospital
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome
Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders. II. Explore the mutations within each syndrome to better understand the genetics of these disorders. III.
- Conditions
- X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
- Trial name
- NCT00004341
- Where
- United States
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Idiopathic Pulmonary Fibrosis
23andMe IPF Research Study
The long term goal of this study is to increase genetic understanding of IPF to enable the development of an effective drug for IPF that can improve the lives of those living with the condition.
- Trial name
- IPF (NCT05028894)
- Testing
- No intervention
- Where
- United States
- Volunteers
- 690 people
- Sponsor
- 23andMe, Inc.
Intellectual Disability, Multiple Congenital Anomaly
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and…
- Conditions
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- Trial name
- NCT03424772
- Testing
- Whole genome sequencing
- Where
- 14 sites in China
- Volunteers
- 100 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Rare Diseases
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.
- Trial name
- NCT04152876
- Where
- Italy
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Neuromed IRCCS
Bone Avascular Necrosis, Sickle Cell Anemia
Decompression Coring Versus Conservative Therapy in Patients With Avascular Necrosis of the Hip Related to Sickle Cell Disease
OBJECTIVES: I. Phase II trial to determine surgical morbidity of decompression coring, including any adverse events in the perioperative period and the rate of secondary medical or surgical interventions. II.
- Trial name
- NCT00006130
- Testing
- Core decompression
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Creation of an Italian Network of Biobanks of Rare Diseases
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000.
- Trial name
- SATELLITES (NCT06782230)
- Where
- Italy
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Cystic Fibrosis, Hemophilia A
Medication Adherence and Non-adherence in Adults With Rare Disease
The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary…
- Conditions
- Cystic Fibrosis, Hemophilia A, Hemophilia B, Idiopathic Pulmonary Fibrosis
- Trial name
- NCT04541875
- Testing
- MAR-Scale
- Volunteers
- healthy volunteers welcome
- Sponsor
- Xperiome
Beta-thalassemia Major, Hemosiderosis
Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)
To allow patients treated with deferasirox in the core study to continue iron chelation therapy for 2 years or until the drug became locally commercially available.
- Conditions
- Beta-thalassemia Major, Hemosiderosis, Iron Overload, Rare Anemia
- Trial name
- ESCALATOR (NCT00171301)
- Testing
- Deferasirox
- Where
- 5 sites in Egypt, Lebanon and 3 more
- Volunteers
- 233 people
- Sponsor
- Novartis Pharmaceuticals
Cystinosis, Fanconi Syndrome
Evaluation of Fanconi Syndrome and Cystinosis
OBJECTIVES: I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.
- Trial name
- NCT00004350
- Volunteers
- 12 people
- Sponsor
- National Center for Research Resources (NCRR)