Clinical trials: Brain; Agenesis
Neural Tube Defects
Genetics of Neural Tube Defects
The Genetics of Neural Tube Defects Study at the University of Miami: The University of Miami John P. Hussman Institute for Human Genomics is looking for families to participate in research to identify the genetic and…
- Trial name
- NTD (NCT01253746)
- Where
- United States
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- John P. Hussman Institute for Human Genomics
Epilepsy
Impact of Interictal Electroencephalographic Abnormalities on the Stability of Attention in the Epilepsies
Cognitive disorders are a major problem in patients with epilepsy. One hypothesis is that the anomalies EEGs (AIC) may be responsible for short periods of attentional fluctuations causing a reduction of intellectual efficiency of…
- Trial name
- COGNIT-AIC (NCT03094793)
- Testing
- abnormal EEGs
- Where
- 2 sites in France
- Volunteers
- 162 people
- Sponsor
- University Hospital, Grenoble
Spina Bifida and Anencephaly
Dosage Effects of Folic Acid on Blood Folates of Honduran Women
CDC staff at the National Center on Birth Defects and Developmental Disabilities have been working closely with a Honduras-based organization, Project Healthy Children (PNS) and the Ministry of Health, on a folic acid…
- Trial name
- NCT00207532
- Testing
- folic acid
- Where
- Honduras
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Centers for Disease Control and Prevention
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Meditation, Brain; Agenesis
Brain Health With Inner Engineering Meditation
This study will explore whether a 21-minute meditation practice called Shambhavi Mahamudra Kriya leads to changes in brain health and explore how it affects cognitive and physiological function.
- Trial name
- BLISS (NCT05455814)
- Where
- United States
- Volunteers
- 77 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Ciliopathies, Nephronophthisis
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome
- Trial name
- CILLICORIRCM (NCT04874909)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 240 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Mucolipidosis Type IV
The Natural History of Mucolipidosis Type IV
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
- Trial name
- NCT01067742
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Baylor Research Institute
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease
ARPKD Database Study
Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl…
- Conditions
- Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, Bardet Biedl Syndrome
- Trial name
- ARPKD (NCT01401998)
- Where
- 6 sites in United States
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Philadelphia
Intellectual Deficiency, Cerebral Abnormality
Corpus Callosum Agenesis and Intellectual Disability
Corpus callosum agenesis or dysgenesis (CCA) is a major brain malformation (˜1/4000 births) presently diagnosed by prenatal ultrasonography.
- Trial name
- ACCREM (NCT02167568)
- Testing
- Genetic
- Where
- France
- Volunteers
- 360 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Brain Disorders, Aicardi Syndrome
Brain Development Research Program
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus…
- Trial name
- NCT00305305
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of California, San Francisco
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
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
Neural Tube Defects, Folic Acid Deficiency
Using Iodized Salt to Improve Serum Folate, B12 and Iron Levels
Question: How effective is fortified iodized salt in increasing serum concentrations of folate, B12 and iron among non-pregnant and non-lactating women of reproductive age? Hypothesis: Micronutrient fortified iodized salt can…
- Conditions
- Neural Tube Defects, Folic Acid Deficiency, Spina Bifida, Anencephaly-Spina Bifida
- Trial name
- NCT06904612
- Testing
- Micronutrient fortified iodized salt
- Where
- 2 sites in United States, India
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Hydrocephalus and Neuroscience Institute
Holoprosencephaly
A Study of the Genetic Analysis of Brain Disorders
A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE).
- Trial name
- NCT00645645
- Where
- United States
- Volunteers
- 5,735 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Thrombocytopenia, Metachromatic Leukodystrophy
Stem Cell Transplantation (SCT) for Genetic Diseases
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II.
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major
- Trial name
- NCT00004378
- Testing
- Stem Cell Transplantation
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)