Clinical trials: Rare Genetic Disorders
Usher Syndrome, Retinitis Pigmentosa
Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome. II.
- Trial name
- NCT00004345
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Rare Diseases, Aniridia
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
The cross-sectional observational clinical study related to rare eye diseases is a multi-center study in which the hypothesis is that neurokinin 1 receptor and/or substance P expression is increased in REDs associated with…
- Conditions
- Rare Diseases, Aniridia, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency
- Trial name
- NCT06412718
- Volunteers
- 274 people, healthy volunteers welcome
- Sponsor
- IRCCS Ospedale San Raffaele
Systemic Lupus, Autoimmune Diseases
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood.
- Conditions
- Systemic Lupus, Autoimmune Diseases, Autoinflammatory Disease, Genetic Disease
- Trial name
- GENIALII (NCT06435468)
- Testing
- Blood sample for genetic analysis, Blood sample for immunological response assessments, Blood sample to identify relevant biomarker of the disease
- Where
- 13 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Selenoprotein N-related Myopathy
Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)
The objective of this study is to determine whether the administration of N-acetylcysteine (NAC) improves oxidative stress. To determine this, the study will assess the impact of oral treatment on the balance between reduced and…
- Trial name
- SelNac (NCT02505087)
- Where
- France
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Autosomal Dominant Retinitis Pigmentosa
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
- Trial name
- NCT01235624
- Testing
- genetic analysis
- Where
- France
- Volunteers
- 1,161 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Cystic Fibrosis
Study of Total Energy Expenditure in Infants and Children With Moderate to Severe Cystic Fibrosis
OBJECTIVES: I. Compare the resting energy expenditure using respiratory calorimetry in infants and children with moderate to severe cystic fibrosis versus age matched healthy controls. II.
- Trial name
- NCT00006273
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Genetic Disease
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown.
- Trial name
- NCT02450851
- Where
- 33 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Homocystinuria
Study of Homocysteine Metabolism in Homocystinuria
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate…
- Trial name
- NCT00004356
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Undiagnosed Diseases, Cardiovascular Disease
Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
- Trial name
- NCT02543996
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Skeletal Disorders
Study of Skeletal Disorders
Background: There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.
- Trial name
- NCT05031507
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Factor X Deficiency
A Database For The Collection Of Clinical, Laboratory, And Treatment Data From Patients With Factor X Deficiency To Define The Natural History Of The Disease And Improve Patient Management
Factor X deficiency is one of the most severe rare bleeding disorders and may lead to serious spontaneous hemorrhages, particularly in patients with severe congenital forms.
- Trial name
- PRO-RBDD-FX (NCT07875478)
- Where
- 2 sites in Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Fondazione Luigi Villa
Intellectual Disability
Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability
Introduction : Intellectual Disability (ID) is the most common cause of referral in the pediatric genetic centers and is characterized by an extreme genetic heterogeneity corresponding to a myriad of rare diseases that…
- Trial name
- DEFIDIAG (NCT04154891)
- Testing
- Whole Genome Sequencing
- Where
- 14 sites in France
- Volunteers
- 3,825 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Rare Genetic Disease, Undiagnosed Diseases
Research for Individualized Therapeutics in Rare Genetic Disease
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
- Trial name
- NCT05236595
- Testing
- Individualized drug matching per genetic disease
- Where
- 3 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
CADASIL, Cavernous Angioma
Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2
CERVCO is the French National Reference Centre for Rare Cerebrovascular and Retinal Diseases, accredited by the Ministry of Health since 2005.
- Conditions
- CADASIL, Cavernous Angioma, Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, Small Vessel Disease
- Trial name
- B-MRVC2 (NCT07650110)
- Testing
- Biocollection, Neurological evaluation and Biocollection
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Anemia
A Safety and Tolerability Study of AG-519 in Healthy Subjects
The purpose of the study is to investigate a drug called AG-519, which is being developed for the treatment of a disease called pyruvate kinase deficiency (also known as PK deficiency) and other forms of anemia.
- Trial name
- NCT02630927
- Testing
- AG-519
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Agios Pharmaceuticals, Inc.