Clinical trials: DNA Repair Disorder
Cockayne Syndrome, Skin Neoplasms
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility.
- Conditions
- Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes
- Trial name
- NCT00001813
- Where
- United States
- Volunteers
- 709 people
- Sponsor
- National Cancer Institute (NCI)
Lynch Syndrome
Evaluation of ArTificial Intelligence System (Gi-Genius) for adenoMa dEtection in Lynch Syndrome.
The purpose of this study is to assess if artificial intelligence aid colonoscopy colonoscopy is superior to conventional colonoscopy for the detection of adenomas during surveillance colonoscopy in patients with Lynch syndrome.
- Trial name
- Timely (NCT04909671)
- Testing
- Gi Genius, Medtronic, White light standart colonoscopy
- Where
- 2 sites in Spain
- Volunteers
- 404 people
- Sponsor
- Hospital Clinic of Barcelona
Familial Adenomatous Polyposis, Map Syndrome
Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
This is an observational, case-control study evaluating the quantitative level of Septin9 in plasma pre- and post-colectomy in hereditary colorectal cancer (CRC) syndrome patients (Familial Adenomatous Polyposis (FAP), Lynch…
- Conditions
- Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome, Hnpcc
- Trial name
- Septin9 (NCT02198092)
- Testing
- Epi proColon Testing
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Pancreas Cancer, Pancreatitis
Pancreas Registry and High Risk Registry
The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of…
- Conditions
- Pancreas Cancer, Pancreatitis, Chronic Pancreatitis, Pancreatic Cyst
- Trial name
- NCT02775461
- Where
- 2 sites in United States
- Volunteers
- 1,368 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Colon Cancer
Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients
Among women with HNPCC, this study will assess: 1. Knowledge of screening recommendations for endometrial and ovarian cancers. 2. Perceived risk and cancer worries regarding endometrial, ovarian and colorectal cancers. 3.
- Trial name
- NCT00508846
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 93 people
- Sponsor
- M.D. Anderson Cancer Center
Renal Cell Carcinoma, Metastatic Renal Cell Carcinoma
Study of Olaparib in Metastatic Renal Cell Carcinoma Patients With DNA Repair Gene Mutations
Single arm, single site, open-label Phase II study of the effects of oral olaparib in participants with metastatic renal cell carcinoma that harbor an inactivating mutation in BAP-1, ATM, BRCA1, BRCA2, PALB2, CHEK2, BRIP1…
- Conditions
- Renal Cell Carcinoma, Metastatic Renal Cell Carcinoma, Kidney Cancer, Renal Carcinoma
- Trial name
- ORCHID (NCT03786796)
- Testing
- Olaparib
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Lynch Syndrome
Colonoscopy Check-up in People With Lynch Syndrome
Lynch syndrome, an inherited condition, increases bowel cancer risk. People with Lynch syndrome are recommended to have regular colonoscopies where a camera in a tube is used to look inside the bowel for cancer and for polyps…
- Trial name
- NCT06126120
- Where
- United Kingdom
- Volunteers
- 231 people
- Sponsor
- Imperial College London
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
Colorectal Cancer, Rectal Cancer
PeLear CCC: Proyecto Latino Contra Cancer Colorrectal
The study aims to recruit 60 Spanish speaking individuals who identify as Latinos, are 18 years or older and attend the Saint Thomas More (STM) Church in Chapel Hill.
- Conditions
- Colorectal Cancer, Rectal Cancer, Colon Cancer, Colon Rectal Cancer
- Trial name
- PeLear CCC (NCT06426927)
- Testing
- Colorectal Cancer Educational Videos in Spanish
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Severe Combined Immunodeficiency, Malignancy, Hematologic
Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products
This protocol (GENEFU) provides a mechanism for the 15-year followup period that the FDA requires for all participants in gene transfer protocols and assures that adequate followup can be maintained for a wide variety of…
- Conditions
- Severe Combined Immunodeficiency, Malignancy, Hematologic, Neuroblastoma, Neoplasm
- Trial name
- NCT00695279
- Testing
- Venipuncture
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- St. Jude Children's Research Hospital
Ataxia Telangiectasia
Comparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects
A Randomized, Open-label, Crossover Study to Evaluate the Comparative Bioavailability, Pharmacokinetics, and Safety of GTX-102 Administered as an Oral Spray Compared to Intramuscular Injection - betamethasone and an Oral Solution…
- Trial name
- NCT05531890
- Testing
- GTX-102 medium dose fast Period 1 and Period 2, GTX-102 medium dose slow Period 1 and Period 2, GTX-102 high dose fast Period 1 and Period 2
- Where
- Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Grace Therapeutics Inc.
Maxillofacial Bone Defects, Alveolar Bone Atrophy
Gene-activated Matrix for Bone Tissue Repair in Maxillofacial Surgery
The purpose of this study is to evaluate safety and efficacy of gene-activated matrix ("Nucleostim") for regeneration of bone tissue in maxillofacial area.
- Conditions
- Maxillofacial Bone Defects, Alveolar Bone Atrophy, Jaw Fractures, Maxillofacial Bone Deformities
- Trial name
- NCT02293031
- Testing
- Gene-activated matrix "Nucleostim"
- Where
- 2 sites in Russia
- Volunteers
- 12 people
- Sponsor
- NextGen Company Limited
Ataxia-Telangiectasia
Study for Treatment of Cancer in Children With Ataxia-telangiectasia
This is a pilot/feasibility study designed to investigate the feasibility of treating children with Ataxia-Telangiectasia (A-T) and cancer with regimens nearly as intense as non-A-T patients with cancer would receive.
- Trial name
- NCT00187057
- Testing
- vinblastine, vincristine, prednisone, daunorubicin, doxorubicin, methotrexate, cyclophosphamide, L-asparaginase, etoposide, cytarabine, mercaptopurine
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- St. Jude Children's Research Hospital
Ataxia-Telangiectasia (A-T)
Expanded Access Program (EAP) of Levacetylleucine for Ataxia-Telangiectasia (A-T)
This expanded access program provides investigational levacetylleucine to patients with Ataxia-Telangiectasia who are not eligible for clinical trials and have no satisfactory alternative therapies.
- Trial name
- NCT07380165
- Testing
- Levacetylleucine
- Sponsor
- IntraBio Inc
Adenosine Deaminase Deficiency, Severe Combined Immunodeficiency (SCID)
An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID
This observational long-term follow-up study is designed to collect safety and efficacy data from ADA-SCID patients previously treated with autologous ex vivo gene therapy products based on the EFS-ADA LV encoding for human…
- Trial name
- NCT04049084
- Testing
- autologous ex vivo gene therapy products based on the EFS LV encoding for the human adenosine deaminase (ADA) gene (EFS-ADA LV)
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 70 people
- Sponsor
- University of California, Los Angeles
Non-Small Cell Lung Cancer, Small Cell Lung Cancer
QUILT-3.055: A Study of Combination Immunotherapies in Patients Who Have Previously Received Treatment With Immune Checkpoint Inhibitors
QUILT-3.055 is a Phase 2b, open-label, multicohort study investigating combination immunotherapies in patients with advanced solid tumors who have previously been treated with PD-1/PD-L1 checkpoint inhibitors.
- Conditions
- Non-Small Cell Lung Cancer, Small Cell Lung Cancer, Urothelial Carcinoma, Head and Neck Squamous Cell Carcinoma
- Trial name
- NCT03228667
- Testing
- N-803 + Pembrolizumab, N-803 + Nivolumab, N-803 + Atezolizumab
- Where
- 35 sites in United States
- Volunteers
- 40 people
- Sponsor
- ImmunityBio, Inc.
Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs.
- Conditions
- Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm
- Trial name
- NCT06523582
- Where
- 3 sites in Mexico
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Autonoma de Mexico
Lung Cancer
Olaparib and Bevacizumab in Relapsed Small Cell Lung Cancer Subjects
This study is a single arm, multi-centre phase II study of olaparib and bevacizumab combination therapy in subjects with relapsed small cell lung cancer (SCLC) as a second or third line (systemic) therapy.
- Trial name
- SUKSES-B2 (NCT04939662)
- Testing
- Olaparib+Bevacizumab to SCLC patients
- Where
- South Korea
- Volunteers
- 25 people
- Sponsor
- Se-Hoon Lee
Ataxia Telangiectasia
Baclofen Treatment of Ataxia Telangiectasia
This research is being done to find out if Baclofen, a medicine that is often used for the treatment of abnormal stiffness, might also be useful to treat some of the neurologic problems caused by ataxia telangiectasia (A-T).
- Trial name
- NCT00640003
- Testing
- Baclofen
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Lynch Syndrome, Colorectal Cancer
Family History Study on Cancer Risk
This study aims to identify the optimal method to recognize, risk stratify, and provide follow-up care for individuals at risk of hereditary cancer.
- Conditions
- Lynch Syndrome, Colorectal Cancer, Breast Cancer, Ovarian Cancer
- Trial name
- NCT04145388
- Testing
- online cancer risk assessment, Usual care
- Where
- United States
- Volunteers
- 18,623 people
- Sponsor
- Kaiser Permanente