Clinical trials: Mucolipidosis Type IV
Mucolipidosis Type IV
The Natural History of Mucolipidosis Type IV
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
- Trial name
- NCT01067742
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Baylor Research Institute
Fructose Metabolism, Inborn Errors, Glycogen Storage Disease
Biomarker for Glycogen Storage Diseases (BioGlycogen)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Fructose Metabolism, Inborn Errors, Glycogen Storage Disease, Glycogen Storage Disease Type I, Glycogen Storage Disease Type II
- Trial name
- BioGlycogen (NCT02385162)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Chemotherapy-induced Nausea and Vomiting
An Open Label, Single Dose, Three Part Study to Assess the Effects of Rolapitant (2 mg/mL IV Solution) on the Pharmacokinetics of Digoxin; Sulfasalazine; and the Cooperstown Cocktail (Midazolam, Omeprazole, Warfarin, Caffeine, and Dextromethorphan in Healthy Subjects
The objective of this Open Label Study is to evaluate effects of Rolapitant IV solution, and its metabolite, on the pharmacokinetics (PK) of the P-gp substrate (digoxin), the BCRP substrate (sulfasalazine), and multiple…
- Trial name
- NCT02434861
- Testing
- Rolapitant, Digoxin, Sulfasalazine
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Tesaro, Inc.
Skeletal Abnormalities, Psychomotor Retardation
Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Mucolipidosis Disorder type I,II,III or IV from blood (plasma)
- Trial name
- BioML (NCT02298673)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
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
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Mucolipidosis Type IV
Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV
Safety and Efficacy of AAV9.hMCOLN1co for patients with Mucolipidosis Type IV(MLIV): A Single-Center, Interventional, Open-Label, Single-Arm Clinical Study.
- Trial name
- AAV9-hMCOLN1 (NCT07398872)
- Testing
- AAV9.hMCOLN1co
- Where
- China
- Volunteers
- 1 people
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine
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