Clinical trials: DNA Damage Repair Deficiency
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
Fanconi Anemia
Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine
The purpose of this research study is to: (1) determine if the combination of low dose total body irradiation, low dose cyclophosphamide and the addition of fludarabine, and a serum to suppress the immune system can allow…
- Trial name
- NCT00595127
- Testing
- Cyclophosphamide, Fludarabine, Total body irradiation (TBI)
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Huntington Disease, Hereditary Breast and Ovarian Cancer
Genetic Risk: Whether, When, and How to Tell Adolescents
This study is being conducted to learn more about family communication of genetic risk information. Semi-structured interviews lasting up to one hour will be conducted with three populations: parent/child pairs at risk for…
- Conditions
- Huntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer
- Trial name
- NCT03421327
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Severe Combined Immunodeficiency, Atypical
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development .
- Trial name
- DEPISTREC (NCT02244450)
- Testing
- SCID screening
- Where
- 51 sites in France
- Volunteers
- 190,539 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome
Pediatric Reporting of Adult-Onset Genomic Results
The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among MyCode adolescent participants and their parents, and health behaviors of children who received…
- Conditions
- Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Hypercholesterolemia
- Trial name
- NCT03832985
- Testing
- Child(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result, Control - Negative Result
- Where
- United States
- Volunteers
- 162 people, healthy volunteers welcome
- Sponsor
- Geisinger Clinic
Chronic Myeloproliferative Disorders, Fanconi Anemia
Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of…
- Conditions
- Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
- Trial name
- NCT00900055
- Testing
- microarray analysis, polyacrylamide gel electrophoresis, polymerase chain reaction
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
T-Cell Immune Deficiency Diseases, Severe Combined Immunodeficiency
IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency
This is a multi-institution, single arm, non-randomized pilot study coordinated by the Pediatric Blood and Marrow Transplant Consortium.
- Trial name
- NCT00228852
- Testing
- Busulfan, Fludarabine and ATG
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Emory University
Colorectal Cancer, Gastric Cancer
Familial Colorectal Cancer Registry in Hispanics
Colorectal cancer (CRC) is the second leading cause of cancer in Puerto Rico (PR) accounting for approximately 1,500 individuals annually, which represent 12% of all cancer cases in the island.
- Conditions
- Colorectal Cancer, Gastric Cancer, Colorectal Neoplasms, Colorectal Adenoma
- Trial name
- PURIFICAR (NCT00927680)
- Where
- 2 sites in Puerto Rico
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- University of Puerto Rico
Fanconi Anemia
Gene Function in Bone Marrow Cells From Patients With Fanconi Anemia and From Healthy Participants
RATIONALE: Studying samples of bone marrow from patients with Fanconi anemia and from healthy participants in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to Fanconi…
- Trial name
- NCT00896740
- Testing
- microarray analysis, biopsy
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Ataxia Telangiectasia, Dysmetria
Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia
Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive…
- Trial name
- NCT05471310
- Where
- Russia
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Ataxia Telangiectasia
Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02285348
- Testing
- Lumbar puncture
- Where
- Germany
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Primary Immunodeficiency, DOCK8
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Background: National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in…
- Conditions
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- Trial name
- NCT00895271
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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
FANCONI ANEMIA
Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
While stem cell transplantation has proven an effective means of treating a wide variety of diseases involving hematopoietic stem cells and their progeny, a shortage of donors has proved a major impediment to the widest…
- Trial name
- RAFHAS (NCT00586274)
- Testing
- CD34 selected haploidentical PBSCT, Fludarabine, T cell infusion
- Where
- 2 sites in United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Metabolic Disease, Obesity
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Background: Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels.
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy
- Trial name
- NCT01143454
- Testing
- NSR IDE-MRI: Research pulse sequences
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Ataxia Telangiectasia, Infections
Susceptibility to Infections in Ataxia Telangiectasia
Death in Ataxia telangiectasia (A-T) is usually due to cancer or chronic lung failure around 20 years of age. Despite low lymphocyte counts (CD3, CD4, CD8 and CD19), IgA and IgG subclass deficiency opportunistic and acute severe…
- Conditions
- Ataxia Telangiectasia, Infections, Immunodeficiency, Lung Disease
- Trial name
- NCT02345135
- Testing
- Blood collection, Lung function measurement, Symptom diary
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Ataxia Telangiectasia
Biomarkers for Babies and Young Children With Ataxia Telangiectasia
The goal of this observational study is to identify progressive changes of quantitative brain and lung imaging, serum and movement-related biomarkers reflecting disease progression in pre-symptomatic infants and very young…
- Trial name
- BOBCAT (NCT07709728)
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Nottingham