Clinical trials: Telomere Disease
Dyskeratosis Congenita, Telomere Disease
Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)
The purpose of this study is to see if a vitamin-like substance called quercetin is safe for people who have a rare condition called Dyskeratosis congenita (DC) or telomere biology disorders (TBD).
- Trial name
- NCT07628972
- Testing
- Quercetin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Depressive Disorder
Study of the Telomere-telomerase System and the Expression of Candidate Genes in the Leukocytes of Patients With Depressive Disorder: Search for Peripheral Markers of Somatic Stress
The mechanisms of oxidative stress and inflammation involved in mood disorders are factors of chronicity and severity. These mechanisms induce a phenomenon of accelerated cellular senescence and are reflected by alterations in…
- Trial name
- NCT01903655
- Testing
- telomere length
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire Dijon
Primary Immune Deficiency Disorder, Immune Deficiency Disease
Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
Phase II prospective trial to assess the rates of donor engraftment using reduced intensity conditioning (RIC) hematopoietic stem cell transplant (HSCT) and post-transplant cyclophosphamide (PTCy) for patients with primary immune…
- Conditions
- Primary Immune Deficiency Disorder, Immune Deficiency Disease, Bone Marrow Failure, Short Telomere Length
- Trial name
- NCT04232085
- Testing
- Alemtuzumab, Fludarabine, Melphalan
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Fanconi Anemia, Severe Aplastic Anemia
Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
This is a phase II trial of T cell receptor alpha/beta depletion (α/β TCD) peripheral blood stem cell (PBSC) transplantation in patients with inherited bone marrow failure (BMF) disorders to eliminate the need for routine…
- Conditions
- Fanconi Anemia, Severe Aplastic Anemia, Myelodysplastic Syndromes, T Cell Receptor Alpha/Beta Depletion
- Trial name
- NCT03579875
- Testing
- Total Body Irradiation (TBI) (Plan 1), Cyclophosphamide (CY) (Plan 1), Fludarabine (FLU)
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Telomere Disease
Low-Dose Danazol for the Treatment of Telomere Related Diseases
Background: DNA is a structure in the body. It contains data about how the body develops and works. Telomeres are found on the end of chromosomes in DNA.
- Trial name
- NCT03312400
- Testing
- Danazol
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Pulmonary Fibrosis, Telomere Shortening
The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis
TELO-SCOPE is a national, multi-centre, double-blind, placebo-controlled, randomised (2:1) trial which will test the hypothesis that, compared to placebo, the addition of danazol to standard of care in pulmonary fibrosis…
- Conditions
- Pulmonary Fibrosis, Telomere Shortening, Telomere Disease, Dyskeratosis Congenita
- Trial name
- NCT04638517
- Testing
- Danazol
- Where
- 9 sites in Australia
- Volunteers
- 29 people
- Sponsor
- The University of Queensland
Dyskeratosis Congenita, Hoyeraal Hreidarsson Syndrome
Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
Dyskeratosis congenita is a disease that affects numerous parts of the body, most typically causing failure of the blood system. Lung disease, liver disease and cancer are other frequent causes of illness and death.
- Conditions
- Dyskeratosis Congenita, Hoyeraal Hreidarsson Syndrome, Revesz Syndrome, Aplastic Anemia
- Trial name
- NCT01659606
- Testing
- alemtuzumab, Fludarabine, Cyclosporins
- Where
- 13 sites in United States, Norway and 1 more
- Volunteers
- 40 people
- Sponsor
- Boston Children's Hospital
Inherited Bone Marrow Failure Syndrome, Fanconi Anemia
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
A non-profit, translational, prospective and retrospective study. Patients will be enrolled according to the procedures described in the protocol, and samples will be processed and analyzed as specified in the protocol.
- Conditions
- Inherited Bone Marrow Failure Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Telomere Biology Disorder
- Trial name
- 2023-12377081 (NCT07877727)
- Where
- 4 sites in Italy
- Volunteers
- 250 people
- Sponsor
- Istituto Giannina Gaslini
Cardiac Toxicity, Acute Leukemia
Association Between Telomere Length and Cardiac Dysfunction
Compelling epidemiological evidence indicates that alterations of relative telomere length (RTL) are associated with cardiac dysfunction caused by chemotherapy in children with acute leukemia (AL).The aim of this study was to…
- Conditions
- Cardiac Toxicity, Acute Leukemia, Childhood Cancer
- Trial name
- NCT04409379
- Testing
- Relative telomere length
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Air Force Military Medical University, China
Severe Aplastic Anemia, Telomere Biology Disorders
Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
Background: Bone marrow failure diseases are rare. Much is known about the diseases at the time of diagnosis, but long-term data about the effects of the diseases and treatments are lacking.
- Conditions
- Severe Aplastic Anemia, Telomere Biology Disorders, Inherited Bone Marrow Failure Syndromes
- Trial name
- NCT05012111
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Endometriosis
Telomeres Evaluation in Endometriosis
The purpose of the study is to assess the telomere array of different endometriosis tissue and endometrium from women with endometriosis compared to healthy women.
- Trial name
- NCT01809561
- Testing
- tissue biopsy during surgical treatment
- Where
- Israel
- Volunteers
- 30 people
- Sponsor
- Meir Medical Center
Type 2 Diabetes Mellitus
Mitochondrial DNA Copy Number and Leukocyte Telomere Length as Biomarkers in Type 2 Diabetic Patients
Type 2 diabetes mellitus, which is characterised by a combination of insulin resistance and insufficient insulin secretion is a major contributor to the burden of morbidity and mortality worldwide.
- Trial name
- NCT05684406
- Testing
- Genotyping
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Sohag University
Telomere Disease, Telomere Shortening
Nasal Brushing for the Diagnosis and Understanding of Telomeropathies
To date, the diagnosis of telomeropathies is based on telomere length measured in blood cells. However, this type of analysis is not always sufficient because some mutations underlying the development of telomeropathies are not…
- Trial name
- TELOSTIC (NCT05508321)
- Testing
- Nasal brushing, Sniffin' Sticks
- Where
- Belgium
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Aplastic Anemia
Danazol for Genetic Bone Marrow and Lung Disorders
Background: Some people have bone marrow and lung disorders that are caused by genetic problems. These problems often involve damage to the ends of the chromosomes that pass down genes. One of these disorders is aplastic anemia.
- Trial name
- NCT01441037
- Testing
- Danazol
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Telomere Biology Disorders, Dyskeratosis Congenita
Nucleoside Therapy in Patients With Telomere Biology Disorders
The goal of this clinical trial is to learn if a combination therapy of deoxycytidine (dC) plus deoxythymidine (dT) is safe in patients with telomere biology disorders.
- Conditions
- Telomere Biology Disorders, Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal Hreidarsson Syndrome
- Trial name
- NCT06817590
- Testing
- deoxycytidine, deoxythymidine
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Suneet Agarwal
Immune Deficiency and Early BMF in Childhood
Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes
The molecular mechanisms participating in the various aspects of the DNA Damage Response (DDR) are absolutely essential to maintain the genome dynamics essential to all living organisms.
- Trial name
- IMMUNEREP (NCT02556359)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Telomere Shortening, Telomere Length, Mean Leukocyte
Evaluating Efficacy and Safety of Danazol in Severe Hematologic or Pulmonary Disease Related to Telomeropathy
Constitutional mutations of genes involved in telomere repair and maintenance are responsible for "telomeropathy" (" Congenital Dyskeratosis "). Attrition of telomeres promotes cell senescence and genetic instability.
- Trial name
- ANDROTELO (NCT03710356)
- Testing
- Danazol 200 MG
- Volunteers
- 40 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Aplastic Anemia, Bone Marrow Failure Syndromes
Nandrolone Decanoate in the Treatment of Telomeropathies
Decrease in blood cell counts due to deficient bone marrow function, called bone marrow failure, as well as some lung diseases, called idiopathic pulmonary fibrosis, can be caused by genetic defects in telomere biology genes…
- Conditions
- Aplastic Anemia, Bone Marrow Failure Syndromes, Idiopathic Pulmonary Fibrosis, Telomere Shortening
- Trial name
- NCT02055456
- Testing
- Nandrolone Decanoate
- Where
- Brazil
- Volunteers
- 20 people
- Sponsor
- University of Sao Paulo
Inflammatory Bowel Disease
Telomere Repair Gene Mutation in Inflammatory Bowel Disease
This study will evaluate and compare the genes of the telomere repair complex in healthy control subjects, patients with blood diseases, and patients with inflammatory bowel disease to identify what, if any, changes are…
- Trial name
- NCT00353639
- Where
- United States
- Volunteers
- 95 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Leukemia
Biomarkers in Samples From Young Patients With Acute Myeloid Leukemia
RATIONALE: Studying bone marrow samples from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01247584
- Testing
- DNA analysis, mutation analysis, polymerase chain reaction
- Volunteers
- 234 people
- Sponsor
- Children's Oncology Group