Clinical Trials on Dyskeratosis-congenita

Total 8764 results

National Cancer Institute (NCI)

Completed

Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

Dyskeratosis Congenita | Telomere Biology Disorders

United States
Masonic Cancer Center, University of Minnesota

Recruiting

Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia

Aplastic Anemia | Dyskeratosis Congenita

United States
Masonic Cancer Center, University of Minnesota

Completed

Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA

Aplastic Anemia | Dyskeratosis Congenita

United States
Boston Children's Hospital
Massachusetts General Hospital; Mayo Clinic; Karolinska University Hospital; Baylor... and other collaborators

Active, not recruiting

Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita

Aplastic Anemia | Dyskeratosis Congenita | Hoyeraal Hreidarsson Syndrome | Revesz Syndrome

United States, Norway, Sweden
Boston Children's Hospital

Terminated

Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita

Fanconi Anemia | Dyskeratosis Congenita

United States
The University of Queensland

Recruiting

The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis

Pulmonary Fibrosis | Dyskeratosis Congenita | Telomere Shortening | Telomere Disease

Australia
Emory University
Children's Healthcare of Atlanta

Terminated

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

Sickle Cell Disease | Fanconi Anemia | Thalassemia | Severe Congenital Neutropenia | Wiskott-Aldrich Syndrome | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Glanzmann Thrombasthenia | Leukocyte Adhesion Deficiency | Dyskeratosis-congenita | Chediak-Higashi Syndrome | Chronic-granulomatous Disease | Schwachman-Diamond...

United States
Emory University

Completed

Bone Marrow Transplant With Abatacept for Non-Malignant Diseases

Sickle Cell Disease | Fanconi Anemia | Hurler Syndrome | Chronic Granulomatous Disease | Severe Congenital Neutropenia | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Glanzmann Thrombasthenia | Shwachman-Diamond Syndrome | Thalassemia Major | Leukocyte... and other conditions

United States
University Hospital Freiburg

Completed

Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment

Myelodysplastic Syndromes | Fanconi Anemia | Dyskeratosis Congenita | Pearson Marrow-pancreas Syndrome | Shwachman-diamond Syndrome

Spain, Germany, Switzerland, Austria, Netherlands, Italy, Czech Republic, Belgium, Denmark, Ireland
National Center for Research Resources (NCRR)
James Whitcomb Riley Hospital for Children

Completed

Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes

Thrombocytopenia | Dyskeratosis Congenita | Fanconi's Anemia | Shwachman Syndrome
St. Jude Children's Research Hospital
Baylor College of Medicine; Children's Hospital of Philadelphia; Dana-Farber... and other collaborators

Recruiting

Investigation of the Genetics of Hematologic Diseases

Myelodysplastic Syndromes | Sickle Cell Disease | Fanconi Anemia | Severe Congenital Neutropenia | Bone Marrow Failure Syndromes | Blood Coagulation Disorder | Erythrocyte Disorder | Leukocyte Disorder | Hemostasis | Dyskeratosis Congenita | Diamond-Blackfan Anemia | Congenital Thrombocytopenia | Myeloproliferative...

United States
University Hospital, Grenoble

Not yet recruiting

Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound (FetUS)

Arthrogryposis Multiplex Congenita (AMC)
University Hospital, Grenoble

Recruiting

Pediatric and Adult Registry for Patients With ARThrogryposis (PARART)

Arthrogryposis Multiplex Congenita (AMC)

France
University Hospital, Grenoble

Completed

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE)

Pediatric ALL | Arthrogryposis Multiplex Congenita | AMC-Arthrogryposis Multiplex Congenita

France
University of Alberta

Withdrawn

Initiation of Resuscitation While Attached to the Cord With Congenital Heart Disease (INSPIRE-CHD)

Hypoplastic Left Heart Syndrome | Congenital Heart Defect | TGA - Transposition of Great Arteries | Congential Absence of Heart Structure | Congenital Malformation of Heart, Unspecified | Hypoplastic Right Heart Syndrome | Congential Malformations of Aortic Valve | Congential Malformations of Great...

Canada
National Cancer Institute (NCI)

Recruiting

Cancer in Inherited Bone Marrow Failure Syndromes

Fanconi Anemia | Dyskeratosis Congenita | Diamond Blackfan Anemia | Shwachman Diamond Syndrome | Inherited Bone Marrow Failure Syndrome, Aplastic Anemia

United States
UConn Health

Recruiting

Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) (ACC)

Aplasia Cutis Congenita

United States
Kamari Pharma Ltd

Recruiting

Study Designed to Evaluate Safety and Efficacy of 1% Topical Formulation of KM-001 on Type 1 Punctate Palmoplantar Keratoderma or Pachyonychia Congenita Diseases

KPPP1 | Pachyonychia, Congenital

Israel
University of British Columbia

Recruiting

Global Hip Dysplasia Registry (GHDR)

Hip Dislocation, Congenital | Congenital Hip Dysplasia | Congenital Dysplasia of the Hip | Congenital Hip Dislocation | Hip Dysplasia, Congenital, Nonsyndromic | Congenital Hip Displacement | Dislocation Of Hip, Congenital | Dislocation, Congenital Hip | Displacement, Congenital Hip | Dysplasia, Congenital... and other conditions

Canada
Vanderbilt University Medical Center

Enrolling by invitation

Nitric Oxide Effect on Brain and Kidney in Pediatric Patients Undergoing Cardiopulmonary Bypass

Congenital Heart Disease | Congenital Heart Defect | Congenital Heart Malformations

United States
Assiut University

Unknown

Screening For Critical Congenital Anomalies In NICU And Their Out Come

Congenital Anomaly
University of Utah

Completed

Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques

Congenital Hand Deformities

United States
Grete Andersen, MD

Completed

Relations Between Myotonia and Fitness

Congenital Myotonia

Denmark
Centre Hospitalier Universitaire Dijon

Recruiting

Evaluation of Rapid First-line Genome Sequencing for Prenatal Diagnosis of Congenital Malformations in Comparison With Chromosomal Microarray and Exome Sequencing (PRENATOMEultra)

Congenital Malformation

France
Mahidol University

Unknown

Effectiveness of Parent's Manipulation in Newborn With Metatarsus Adducts. a Randomized Controlled Trial

Foot Deformity Congenital

Thailand
Centre Hospitalier Universitaire Dijon

Recruiting

Comparison of the Non-invasive Approach and Fetal Exome Sequencing in Prenatal Diagnosis When Fetal Ultrasound Signs Are Discovered (DPNI-Exome)

Antenatal Congenital Malformations

France
Assiut University

Unknown

Vertebral Column Resection (VCR) in Congenital Kyphoscoliosis (CKS)

Congenital Spinal Deformity | Congenital Kyphoscoliosis
Assiut University

Enrolling by invitation

SPLATT to Peroneus Brevis vs TATT to Lateral Cuneiform (Recurrent CTEV)

Recurrent Congenital Talipes Equinovarus

Egypt
Oregon Health and Science University
University of Central Florida; Limbitless Solutions

Enrolling by invitation

Prosthetic Device in Children With Upper Congenital Limb Deficiency

Upper Limb Deformities, Congenital

United States
Józef Piłsudski University of Physical Education

Completed

Physical Activity and Sports for People With Special Needs

Amputation | Dysmelia | Leg; Deformity, Congenital

Poland
GCS Ramsay Santé pour l'Enseignement et la Recherche

Completed

Assessment of Orthopedic Care of the Z-shaped Foot in Infant

Foot Deformities

France
ITAB - Institute for Advanced Biomedical Technologies
Italian Society of Cardiology

Completed

Italian Registry of Cardiovascular Magnetic Resonance on Congenital Anomalies of the Coronary Arteries (ITACA-Registry) (ITACA)

Congenital Coronary Artery Abnormality

Italy
Palvella Therapeutics, Inc.

Recruiting

A Multicenter, Phase 3 Randomized, Double-Blind, Vehicle-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Pachyonychia Congenita (VAPAUS)

Pachyonychia Congenita

United States, United Kingdom
Pachyonychia Congenita Project

Recruiting

International Pachyonychia Congenita Research Registry (IPCRR)

Pachyonychia Congenita

United States
Chinese University of Hong Kong

Unknown

Customized Self-Controlled Power-Driven or Mechanical Orthoses for the Upper Limb - A Pilot Study

Upper Limb Deformities, Congenital

Hong Kong
Marco Corridore

Completed

A Pilot Study of Optic Nerve Ultrasound Following Cardiopulmonary Bypass

Congenital Heart Disease | Congenital Heart Defect

United States
University Hospital, Bonn

Recruiting

Fetal Cardiac Magnetic Resonance in Detection of CHD

Congenital Heart Disease | Heart Defect, Congenital | Fetal Cardiac Disorder

Germany
Carmell Therapeutics Corporation

Withdrawn

Bone Healing Accelerant (BHA) Versus Autologous Bone Grafting (ABG) for Hindfoot or Ankle Arthrodesis

Foot Deformities
West China Hospital
Xiamen Health Commission; Xiamen Health and Medical Big Data Center

Completed

A Population-based Study of Drug Exposures and Adverse Pregnancy Outcomes in China (DEEP)

Pregnancy | Congenital Malformation | Drug Exposure

China
University of Aarhus

Completed

Retrospective Follow-up Study After Periacetabular Osteotomy in Adults

Congenital Deformity of Hip Joints
University of Ulster
Belfast Health and Social Care Trust

Completed

Comparison of Home and Standard Clinic Monitoring of INR in Patients With CHD

Congenital Heart Disease | Congenital Heart Defect | Adult Congenital Heart Disease

United Kingdom
LiMing
Hunan Children's Hospital; Guangzhou Women and Children's Medical Center; Shenzhen...

Unknown

Efficacy Analysis of Minimally Invasive Carroll's Technique in Treatment of Congenital Idiopathic Clubfoot

Congenital Clubfoot

China
Pakistan Society for Rehabilitation of Differently...

Recruiting

Management of Congenital Talipes Equinovarus by Saleem's Protocol

Congenital Talipes Equinovarus

Pakistan
Medical College of Wisconsin

Terminated

Customized Orthosis for Children With Clubfoot

Congenital Talipes Equinovarus

United States
Hillel Yaffe Medical Center
Technion, Israel Institute of Technology

Unknown

The Role of Placental Myeloid Cells During Gestation, Labor and Disease

Congenital Anomaly of Pregnant Women

Israel
Palvella Therapeutics, Inc.

Recruiting

A Study Evaluating the Safety and Pharmacokinetics of QTORIN Rapamycin 3.9% Anhydrous Gel in the Treatment of Adults With Pachyonychia Congenita

Pachyonychia Congenita

United States
Palvella Therapeutics, Inc.

Active, not recruiting

VALO-2: Study Evaluating the Safety and Efficacy of PTX022 in the Treatment of Adults With Pachyonychia Congenita (VALO-2)

Pachyonychia Congenita

United States
TransDerm, Inc.
Pachyonychia Congenita Project

Completed

Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)

Pachyonychia Congenita

United States
Pachyonychia Congenita Project

Completed

Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita

Pachyonychia Congenita

United States
Palvella Therapeutics, Inc.

Unknown

Phase 2/3 Study Evaluating the Safety and Efficacy of PTX-022 in Treatment of Adults With Pachyonychia Congenita

Pachyonychia Congenita

United States

Clinical Trials on Dyskeratosis-congenita

Sponsors and Collaborators

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CROs in Austria

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