Clinical trials: Natural History
Zellweger Spectrum Disorder
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1.
- Trial name
- ZSDvision (NCT06190626)
- Where
- 3 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Autoinflammatory Disease, Juvenile Dermatomyositis
Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis
Purpose: The purpose of this protocol is 1. To comprehensively evaluate patients with autoinflammatory diseases clinically, genetically and immunologically at the autoinflammatory disease clinic at the NIH. 2.
- Trial name
- NCT00059748
- Where
- United States
- Volunteers
- 757 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Tuberous Sclerosis Complex
Tuberous Sclerosis Complex Natural History Study: Renal Manifestations
Eighty percent of patients with tuberous sclerosis complex (TSC) have renal angiomyolipomata. These lesions grow and can lead to significant morbidity by hemorrhage or renal failure.
- Trial name
- NCT00598455
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Cognitive Dysfunction
Characteristics and Outcomes of a Capacity-to-Consent Assessment Service
Background: Many medical conditions such as Alzheimer s disease limit the ability of people to think clearly. For medical scientists to best study these medical conditions, they need to enroll some people who may not be able to…
- Trial name
- NCT03258606
- Where
- United States
- Volunteers
- 1,098 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Genetic Syndrome
NGLY1 Deficiency: A Prospective Natural History Study
NGLY1 deficiency is a rare genetic disorder that is characterized by: global developmental delay and/or intellectual disability, hypo- or alacrima, transient elevation of transaminases, and a hyperkinetic movement disorder.
- Trial name
- NCT03834987
- Testing
- Neurodevelopmental Assessment
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Stanford University
Pompe Disease
A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
This project is an observational prospective study in which patients affected by an adult onset Pompe disease will be followed-up during three years using different clinical, analytical and radiological tests in order to know…
- Trial name
- POMPE 2013 (NCT01914536)
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Registry of Li Fraumeni and Li Fraumeni Like Syndromes
ReLF is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- ReLF (NCT04982744)
- Where
- 2 sites in Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Ortopedico Rizzoli
Rett Syndrome
Biomarkers in Rett Syndrome
Rett syndrome (RTT) is an X-linked genetic disorder that causes severe neurological development disorder. In its classic form, it seems to affect almost exclusively females with an incidence of up to one in 10,000 females.
- Trial name
- BIRS (NCT06346444)
- Testing
- Diagnostic test and behavioral
- Where
- 4 sites in Ireland, Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Cancer
Clinical and Laboratory Analysis of Familial Cancer
Background: DNA makes up the instruction book for people s cells. Cancer is a disease caused by DNA changes that build up and affect cell function.
- Trial name
- NCT02565004
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- National Cancer Institute (NCI)
Cystinosis
Use of Cysteamine in the Treatment of Cystinosis
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival.
- Trial name
- NCT00359684
- Testing
- Cysteamine
- Where
- United States
- Volunteers
- 330 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Limb-girdle Muscular Dystrophy
A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy…
- Trial name
- NCT04475926
- Where
- 26 sites in United States, Belgium and 8 more
- Volunteers
- 205 people
- Sponsor
- Sarepta Therapeutics, Inc.
Deafness, Kidney Diseases
Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors
The von Hippel Lindau (VHL) gene has recently been identified as the genetic defect resulting in a syndrome of multiple neoplasias.
- Conditions
- Deafness, Kidney Diseases, Kidney Neoplasms, Neoplasms
- Trial name
- NCT00001668
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)