Clinical trials: Ataxia Telangiectasia
Ataxia Telangiectasia
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
- Trial name
- NCT04870866
- Testing
- Nicotinamide ribonucleoside
- Where
- 2 sites in Norway
- Volunteers
- 13 people
- Sponsor
- University Hospital, Akershus
Ataxia Telangiectasia, ATM Gene Mutation
Effects of Vitamin B3 in Patients With Ataxia Telangiectasia
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia.
- Trial name
- NCT03962114
- Testing
- Vitamin B3
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Radboud University Medical Center
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
A National Retrospective Population Based Cohort Study of the Natural History of Ataxia Telangiectasia
This is a retrospective observational study of natural-history of ataxia-telangiectasia. Understanding the natural history and its variability is not only vital to planning effective patient-centred services, and counselling…
- Trial name
- N-HAT (NCT04991701)
- Where
- 2 sites in United Kingdom
- Volunteers
- 178 people
- Sponsor
- University of Nottingham
Ataxia Telangiectasia, Leukemia
Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a multisystem disease with diverse manifestations, including progressive neurodegeneration, immunodeficiency, respiratory disease, and genomic instability.
- Conditions
- Ataxia Telangiectasia, Leukemia, Lymphoma
- Trial name
- NCT04037189
- Where
- Israel
- Volunteers
- 250 people
- Sponsor
- Rabin Medical Center
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
Ataxia Telangiectasia Louis-Bar, Ataxia Telangiectasia in Children
MBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia
Ataxia Telangiectasia (A-T) is an autosomal recessively inherited neurodegenerative disorder that also has dramatic effects on the immune and endocrine systems.
- Conditions
- Ataxia Telangiectasia Louis-Bar, Ataxia Telangiectasia in Children, Ataxia Telangiectasia
- Trial name
- NCT04887311
- Testing
- MBM-01
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Matrix Biomed, Inc.
Ataxia Telangiectasia
Neurofilament Light- Chain in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT04605523
- Testing
- blood withdrawal
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Pancreatic Neoplasms, Peutz-Jegher's Syndrome
Pancreatic Cancer Screening of High-Risk Individuals in Arkansas
100 subjects who have a family history of pancreatic cancer (PC), or known genetic syndromes associated with increased risk of pancreatic cancer, will be followed for five years.
- Conditions
- Pancreatic Neoplasms, Peutz-Jegher's Syndrome, BRCA1 Gene Mutation, BRCA2 Gene Mutation
- Trial name
- NCT02309632
- Testing
- Pancreatic Cancer Screening Pathway 1, Pancreatic Cancer Screening Pathway 2
- Where
- United States
- Sponsor
- University of Arkansas
Ataxia-Telangiectasia (A-T)
Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
This research is being done to better understand the causes of the disease Ataxia-Telangiectasia and, in the longer-term, develop new therapies for the disease using stem cells.
- Trial name
- NCT02246491
- Testing
- A-T iPS cell line, Carrier patients iPS cell line
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Johns Hopkins University
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
Ataxia-Telangiectasia
Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone
This study aims to investigate the link between the Ataxia Telangiectasia Mutated (ATM) gene and metformin response. This link has been identified from large studies of the human genome, and this study aims to confirm this link…
- Trial name
- RAMP (NCT02733679)
- Testing
- Metformin, Pioglitazone
- Where
- United Kingdom
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- NHS Tayside
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
Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability and cancer susceptibility.
- Trial name
- NCT03357978
- Testing
- bioelectrical impedance analysis, blood draw, transient elastography (FibroScan)
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Pain
Evaluation of the Tolerability of Switching Subjects on Chronic ATC Opioid Therapy to Buprenorphine HCl Buccal Film
The primary aim of this study is to determine if chronic pain subjects on around-the-clock opioids who are receiving 100 to 220 mg oral morphine sulfate equivalent (MSE) can be safely transitioned on to buprenorphine…
- Trial name
- NCT01871285
- Testing
- Buprenorphine, Oxycodone, Morphine sulfate
- Where
- 3 sites in United States
- Volunteers
- 39 people
- Sponsor
- BioDelivery Sciences International
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
Body Composition and Hormonal Status in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02345200
- Testing
- bioelectrical impedance analysis, blood draw
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Ataxia Telangiectasia
International Ataxia Rating Scale in Younger Patients
The project will collect information on the mapping of clinical ratings on a number of scales that are used in the assessment of patients with ataxias.
- Trial name
- NCT01942850
- Where
- 5 sites in United States, India and 2 more
- Volunteers
- 63 people
- Sponsor
- Quince Therapeutics S.p.A.
Cancer
Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell Transplant
RATIONALE: Antifungals, such as caspofungin acetate, may be effective in treating fungal infections caused by chemotherapy or stem cell transplant.
- Trial name
- NCT00110045
- Testing
- caspofungin acetate
- Where
- 13 sites in Belgium, France and 5 more
- Volunteers
- 171 people
- Sponsor
- European Organisation for Research and Treatment of Cancer - EORTC
Ataxia Telangiectasia, Growth Failure
Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
This study will evaluate the status of the growth hormone/ insulin-like growth factor-1 (GH/IGF-1) axis in relation to growth failure, body weight and composition and neuroprotection in children with Ataxia telangiectasia (AT).
- Trial name
- GHAT (NCT01052623)
- Testing
- Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
- Where
- Germany
- Volunteers
- 24 people
- Sponsor
- Johann Wolfgang Goethe University Hospital