Clinical trials: Genetic Conditions
Hypophosphatemic Rickets, Growth Disorders
Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets
X-linked hypophosphatemic rickets (XLH) is characterized by rickets, disproportionate short stature, impaired renal phosphate reabsorption and vitamin D metabolism.
- Conditions
- Hypophosphatemic Rickets, Growth Disorders, Somatropin Therapy
- Trial name
- NCT00473187
- Testing
- somatropin
- Where
- Germany
- Sponsor
- University of Rostock
Hereditary Ataxia
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies. II.
- Trial name
- NCT00004306
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Office of Rare Diseases (ORD)
Charcot Marie Tooth Disease (CMT), Pes Cavovarus
Walking Function Outcomes Following Surgical Correction With Rehabilitation Versus Physical Therapy Alone in Charcot-Marie-Tooth Disease: A Bidirectional Cohort Study
The goal of this study is to compare changes in walking ability in people with Charcot-Marie-Tooth disease (CMT) who receive two different treatment approaches for foot deformities that affect walking.
- Conditions
- Charcot Marie Tooth Disease (CMT), Pes Cavovarus, Surgery, Exercise Training
- Trial name
- CMT-WALK (NCT07432035)
- Testing
- Functional Surgery plus Rehabilitation, Physical Exercise
- Volunteers
- 200 people
- Sponsor
- Peking University Third Hospital
Hurler Syndrome, Fanconi Anemia
Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
This is a single arm, phase I study to assess the tolerability of abatacept when combined with cyclosporine and mycophenolate mofetil as graft versus host disease prophylaxis in children undergoing unrelated hematopoietic stem…
- Conditions
- Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01917708
- Testing
- Abatacept
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emory University
Alpha-1 Antitrypsin Deficiency
The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
- Trial name
- ACT (NCT00500123)
- Testing
- Alpha-1 Antitrypsin Genotype
- Where
- United States
- Volunteers
- 50,000 people, healthy volunteers welcome
- Sponsor
- University of Florida
Mycoses
Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease
This protocol describes a prospective, randomized study examining the safety and efficacy of Itraconazole for preventing fungal infections in patients with Chronic Granulomatous Disease (CGD).
- Trial name
- NCT00001280
- Testing
- itraconazole
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Lennox Gastaut Syndrome
An Extended Access Program (EAP) for Participants Who Have Completed Rufinamide Study E2080-G000-303
This is an extended access study for participants who have completed Rufinamide Study E2080-G000-303 to continue to have access to rufinamide until it becomes commercially available in Poland or until no participants remain in…
- Trial name
- NCT03778424
- Testing
- Rufinamide
- Where
- 2 sites in Poland
- Sponsor
- Eisai Inc.
Early Onset Genetic Conditions With Near Complete Penetrance
Genomic Uniformed-Screening Against Rare Disease In All Newborns
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening.
- Trial name
- GUARDIAN (NCT05990179)
- Testing
- Genome sequencing-based newborn screening
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Atopic Dermatitis
Prospective, Randomized, Double Blind Comparative Study on the Use of Two Creams in Xerosis Atopic Probands
Atopic dermatitis (AD), a chronic and relapsing inflammatory skin disease, is associated with elevated IgE levels and Th2 responses.
- Trial name
- NCT00509535
- Testing
- vitreoscilla filiformis cream
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- L'Oreal
Translocation Down Syndrome, Chromosomal Abnormalities
Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
This research study will investigate a special type of Down syndrome called translocation Down syndrome. While most children with Down syndrome have an extra copy of chromosome 21, about 3-4% have this extra chromosome material…
- Trial name
- PTP-DS (NCT07175168)
- Testing
- No medical or experimental intervention will be administered
- Volunteers
- 230 people
- Sponsor
- Assiut University
Duchenne Muscular Dystrophy (DMD)
A Study to Assess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMD
The primary objective of Parts 1 and 2 of the study were to establish the histologic effects of givinostat administered chronically at the selected daily dose.
- Trial name
- NCT01761292
- Testing
- Givinostat
- Where
- 4 sites in Italy
- Volunteers
- 20 people
- Sponsor
- Italfarmaco
Marfan Syndrome, FBN1 Mutation
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems.
- Trial name
- GEMS (NCT06257004)
- Testing
- Saliva collection (screening of all participants), Bloodsampling
- Where
- Belgium
- Volunteers
- 200 people
- Sponsor
- University Hospital, Antwerp
PolG, Primary Mitochondrial Myopathy
Mitochondrial Video Assessment Source Material Study
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
- Trial name
- NCT06180421
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The Emmes Company, LLC
Tourette Syndrome, Tic Disorder, Chronic Motor or Vocal
Open-label MNS for Tourette Syndrome
A recent report (Morera Maiquez et al 2020) described reduced tic severity in people with Tourette syndrome during 1-minute epochs of median nerve stimulation (MNS) at 10 Hz.
- Trial name
- NCT05016765
- Testing
- Active, self-directed electrical stimulation of the median nerve
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Washington University School of Medicine
Rett Syndrome
Study of the Pathogenesis of Rett Syndrome
OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome (RS). II. Continue the search for a cytogenetic and/or DNA marker. III.
- Trial name
- NCT00004807
- Testing
- dextromethorphan, topiramate, Donepezil
- Volunteers
- 120 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hippel-Lindau Disease
EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome
This study will test the ability of the experimental drug EYE001 to reduce retinal thickening and improve vision in patients with Von Hippel-Lindau syndrome (VHL).
- Trial name
- NCT00056199
- Testing
- EYE001
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Inborn Errors of Metabolism
N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
This study is based on the hypothesis that a new drug N-carbamylglutamate (Carbaglu®) will enhance the ability of the liver to dispose of toxic ammonia which accumulates in several metabolic diseases including urea cycle…
- Trial name
- NCT00843921
- Testing
- N-carbamylglutamate
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- Mendel Tuchman
Waardenburg Syndrome, Large Vestibular Aqueduct Syndrome
Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
The purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.
- Trial name
- NCT02418936
- Testing
- gene diagnostic kit
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Xiangya Hospital of Central South University
Sensorineural Hearing Loss, Cytomegalovirus Infection
Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
This study will try to identify and understand the genetic factors that lead to an inner ear malformation called "enlarged vestibular aqueducts", that can be associated with hearing loss.
- Trial name
- NCT00023036
- Where
- United States
- Volunteers
- 324 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.