Clinical trials: Madelung's Disease
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Metabolic Disorder; Carbohydrate, Absorption, Intestine
Determination of the Postprandial Responses to Two Cereal Foods Differing by Their SDS Content Consumed Alone.
This study aimed at determining the 4-hours postprandial blood glucose and insulin responses to the ingestion of cereal product differing by their SDS content.
- Trial name
- NCT02538653
- Testing
- Sandwich biscuit high in SDS, Co-extruded cereal low in SDS
- Where
- Australia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Mondelēz International, Inc.
Pelvic Lipomatosis, Cystitis Glandularis
Efficacy of UMT in CG Patients With PL
To clinically validate the pathological role of Cer accumulation and evaluate a novel microbiota-targeted intervention, we conducted a comprehensive analysis of bladder mucosal specimens from a well-characterized patient cohort…
- Trial name
- NCT07530627
- Testing
- Urinary Microbiota Transplantation (UMT)
- Where
- China
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Peking University First Hospital
Lymphedema, Lymphatic Disorders
Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders
The purpose of this study is to demonstrate the feasibility of near-infrared fluorescence imaging in subjects with acquired or hereditary lymphedema, in subjects with lipidema and other lymphovascular disorders and in normal…
- Conditions
- Lymphedema, Lymphatic Disorders, Lipedema, Vascular Malformation
- Trial name
- NCT00833599
- Testing
- NIRFLI with ICG
- Where
- 3 sites in United States
- Volunteers
- 283 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Lipedema, Dercum's Disease
Insight Into Subcutaneous Adipose Tissue Disorders
The INSIGHT study aims to phenotype individuals with subcutaneous adipose tissue (SAT) disorders specifically lipedema and Dercum's disease with an aim to find a cure for the SAT in these disorders that is resistant to diet and…
- Conditions
- Lipedema, Dercum's Disease, Familial Multiple Lipomatosis, Madelung's Disease
- Trial name
- INSIGHT (NCT02838277)
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Arizona
Shwachman-Diamond Syndrome
Diabetes/ Endocrine Surveillance in SDS
Shwachman-Diamond syndrome(SDS) is a rare autosomal recessive disorder involving primarily the Shwachman-Bodian-Diamond syndrome gene located on chromosome 7q11.
- Trial name
- NCT04275479
- Testing
- Oral Glucose Tolerance Test, Modified Oral Glucose Tolerance Test, Modified Mixed Meal Tolerance Test
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine