Clinical trials: Natural History
GM1 Gangliosidosis
Interviews and Video Capture in Patients With GM1 Gangliosidosis
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures.
- Trial name
- NCT04310163
- Testing
- Natural history
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- LYSOGENE
Dermatologic Diseases, Systemic Diseases With Cutaneous Manifestations
Evaluation and Treatment of Patients With Dermatologic Diseases
This is a training, natural history of disease, and screening protocol for the evaluation, treatment and follow-up of patients with dermatologic diseases and systemic diseases with cutaneous manifestations.
- Trial name
- NCT00001506
- Where
- United States
- Volunteers
- 453 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Mucolipidosis Type IV
Mucolipidosis Type IV Natural History Study
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the…
- Trial name
- NCT05782387
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Massachusetts General Hospital
X-linked Myotubular Myopathy
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.
- Trial name
- NCT02453152
- Testing
- History and physical, Tidal breathing, Maximal respiratory pressures
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- University of Florida
Retinoblastoma, Melanoma
Retinoblastoma Biomarker Study
Retinoblastoma is a rare pediatric ocular tumor caused by germline and/or somatic mutations in the tumor suppressor gene RB1. Survivors of retinoblastoma, particularly those with the hereditary form of the disease (germline RB1…
- Conditions
- Retinoblastoma, Melanoma, Sarcoma
- Trial name
- NCT00342797
- Where
- 4 sites in United States
- Volunteers
- 2,136 people
- Sponsor
- National Cancer Institute (NCI)
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Movement Disorder, Tremor
Natural History Protocol for Movement Disorders
Background: A movement disorder is a condition that causes a person s body to move in ways that are not normal. There are different types. Some disorders cause movements people can t control, such as tics or shaking.
- Conditions
- Movement Disorder, Tremor, Parkinson's Disease
- Trial name
- NCT05413291
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
GNE Myopathy, GNE Related Diseases
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Background: GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles.
- Trial name
- NCT01417533
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Malaria
Laboratory Evaluation of Pregnancy Malaria Vaccine Candidates/In-vitro Testing of Pregnancy Malaria Vaccine Candidates
Background: Malaria is a disease that affects many people in African countries. It is caused by germs that are spread by mosquito bites. It can be fatal if not diagnosed and treated right away.
- Trial name
- NCT02471378
- Where
- Mali
- Volunteers
- 7,476 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Hypophosphatasia
Natural History Study of Patients With Hypophosphatasia (HPP)
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone and teeth mineralization caused by mutations of the ALPL gene, which encodes for the tissue-nonspecific alkaline phosphatase (TNSALP)…
- Trial name
- NatHisHPP (NCT02237625)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Patent Processus Vaginalis, Inguinal Hernia
Natural History of Infants With Patent Processus Vaginalis
This will be a multi-center prospective observational study of all patients who undergo laparoscopic pyloromyotomy. Subjects who have PPV will be followed up to just before their 18th birthday through annual phone calls or emails…
- Trial name
- HxPPV (NCT03042858)
- Testing
- Infants with PPV, Infants without PPV
- Where
- United States
- Volunteers
- 801 people
- Sponsor
- Children's Mercy Hospital Kansas City
GNAO1
GNAO1 Natural History Study
The purpose of the GNAO1 Natural History Study is to establish the clinical phenotype of GNAO1 associated neurologic disease, its association with genotype, and areas of clinical importance within the disease.
- Trial name
- GNAO1 (NCT04950946)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Washington University School of Medicine
LCAT Deficiency
LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study
The purpose of the LCAT (Lecithin cholesterol acyl transferase) Natural History Study (LCAT NHS) is to help identify people with a mutation in a gene called LCAT, collect and store information about their medical history and…
- Trial name
- LCAT NHS (NCT06217588)
- Testing
- Demographics, diagnosis type, genotype, lipid profile, renal function profile, treatment allocation, ophthalmology exam, country of residence.
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Pennsylvania
Duchenne Muscular Dystrophy
A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD)
The primary objective of this study is to evaluate the safety of a 0.9 milligrams per kilogram (mg/kg) and 0.45 mg/kg daily dose of deflazacort with a comparable natural history control group after 52 weeks of treatment in males…
- Trial name
- PTCEMF (NCT03642145)
- Testing
- Deflazacort
- Sponsor
- PTC Therapeutics
Attention Deficit Hyperactivity Disorder, Schizophrenia
Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers
Magnetic Resonance Imaging (MRI) unlike X-rays and CT-scans does not use radiation to create a picture. MRI use as the name implies, magnetism to create pictures with excellent anatomical resolution.
- Conditions
- Attention Deficit Hyperactivity Disorder, Schizophrenia, Attention Deficit Disorder With Hyperactivity
- Trial name
- NCT00001246
- Where
- United States
- Volunteers
- 4,276 people
- Sponsor
- National Institute of Mental Health (NIMH)
Sanfilippo Syndrome Type D
A Natural History Study of Sanfilippo Syndrome Type D
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young…
- Trial name
- MPSIIID (NCT05648851)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Phoenix Nest
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
COVID-19 Infection, Hematopoietic and Lymphatic System Neoplasm
NCI COVID-19 in Cancer Patients, NCCAPS Study
This study collects blood samples, medical information, and medical images from patients who are being treated for cancer and have a positive test for SARS CoV-2, the new coronavirus that causes the disease called COVID-19.
- Conditions
- COVID-19 Infection, Hematopoietic and Lymphatic System Neoplasm, Malignant Solid Neoplasm, Metastatic Malignant Solid Neoplasm
- Trial name
- NCT04387656
- Testing
- Biospecimen Collection, Data Collection, Quality-of-Life Assessment
- Where
- 932 sites in United States, Canada and 1 more
- Volunteers
- 1,877 people
- Sponsor
- National Cancer Institute (NCI)
Von Hippel-Lindau Disease, Central Nervous System Hemangioblastoma
Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas
Von Hippel-Lindau (VHL) disease is a rare hereditary cancer predisposition syndrome associated with the development of central nervous system hemangioblastomas from childhood.
- Trial name
- VHL-PED-CHB (NCT07705529)
- Where
- 3 sites in France
- Volunteers
- 25 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Von Hippel-Lindau Disease
Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease
Von Hippel-Lindau disease (VHL) is an inherited cancer syndrome. Patients are at risk for developing pancreatic cysts and tumors. These tumors are more aggressive in some people than in others.
- Trial name
- NCT00062166
- Where
- United States
- Volunteers
- 340 people
- Sponsor
- National Cancer Institute (NCI)