Clinical trials: Disorders of Unknown Prevalence
Familial Amyloid Neuropathy, Transthyretin Amyloidosis
Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Familial amyloid neuropathy due to transthyretin gene mutations (TTR-FAP) is a rare autosomal dominant inherited disease resulting in the abnormal multi-system deposition of amyloid proteins.
- Trial name
- PRE-TRANS (NCT03190577)
- Testing
- blood sample
- Where
- 12 sites in France
- Volunteers
- 400 people
- Sponsor
- Nantes University Hospital
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Pain, Fabry's Disease
Prevalence of Fabry's Disease in a Population of Patients With Chronic Pains
Fabry disease (FD) is a rare X-linked multisytemic lysosomal disorder caused by alpha-galactosidase deficiency. Globotriaosylcéramide (Gb3) deposits are observed in almost all tissues examined.
- Trial name
- DOUFAB (NCT01178164)
- Testing
- Blood sampling for biological and genetic analysis
- Where
- France
- Volunteers
- 137 people
- Sponsor
- University Hospital, Bordeaux
Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)
Prevalence and Characteristics of Transthyretin Amyloidosis in Patients With Left Ventricular Hypertrophy of Unknown Etiology
The main purpose of this study is to determine the prevalence of ATTR Cardiomyopathy among patients admitted due to Left Ventricular Hypertrophy (LVH) >15mm of unknown etiology by using a 99mTc-tracer scintigraphy based protocol
- Trial name
- TTRACK (NCT03842163)
- Testing
- Diagnosis of TTR amyloidosis cardiomyopathy
- Where
- 18 sites in Australia, Austria and 8 more
- Volunteers
- 812 people
- Sponsor
- Pfizer
Polyneuropathy, Amyloidosis
Prevalence of Wild-type TTR Cardiac Amyloidosis in Patients With Polyneuropathy of Unknown Cause.
To investigate to what extent chronic axonal length-dependent polyneuropathy (CAP) and/or small-fiber neuropathy (SFN) is part of early non-cardiac manifestations of wild-type TTR cardiac amyloidosis (wtTTR-CA).
- Trial name
- NCT05950867
- Testing
- ECG + echocardiography, Answering questionnaires
- Where
- Belgium
- Volunteers
- 150 people
- Sponsor
- Universitair Ziekenhuis Brussel
Diabetes Mellitus, Frozen Shoulder
Prevalence of Unknown and Known Diabetes in Patients With Frozen Shoulder
The purpose of the study is to investigate how high the prevalence of diabetes (known and unknown) is among patients with a frozen shoulder. Our hypothesis is that it is around 30-40 %.
- Trial name
- NCT01978886
- Where
- 3 sites in Denmark
- Volunteers
- 220 people
- Sponsor
- Sygehus Lillebaelt
Epilepsy, Encephalitis Autoimmune
Neural Autoantibody Prevalence in New-onset Focal Seizures of Unknown Etiology
Seizure is one of the most common symptoms in autoimmune encephalitis with neuronal surface-mediated antibodies. Interestingly, some patients may exhibit new-onset seizures as the initial manifestation without fulminant sign of…
- Trial name
- NCT06388161
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Shen Chun-Hong