Clinical trials: Genetic Diseases, X-Linked
Dent's Disease, Nephrolithiasis
Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria
Intrarenal calcifications (nephrocalcinosis) is present in Dent's disease and likely contribute to progression toward renal failure.
- Trial name
- DESY (NCT00638482)
- Testing
- Hydrochlorothiazide
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
X Linked Hypohidrotic Ectodermal Dysplasia
Phenotypic Properties in Individuals Affected With XLHED
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
- Trial name
- ECP-014 (NCT01871714)
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Becker Muscular Dystrophy
Safety and Biomarker Response to (+)-Epicatechin in Becker Muscular Dystrophy
This is a Phase 1, open-label, dose escalation study aimed at evaluating the safety, early efficacy and potential biomarkers of (+)-epicatechin in patients with Becker or Becker-like Muscular Dystrophy (BMD).
- Trial name
- NCT04386304
- Testing
- (+)-Epicatechin
- Where
- 3 sites in United States
- Volunteers
- 22 people
- Sponsor
- Epirium Bio Inc.
X-linked Hypohidrotic Ectodermal Dysplasia
A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200
Following discussions with the FDA, a Phase 1 safety study is being initiated in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)-affected adults to develop safety and exposure data for EDI200 in anticipation of dosing…
- Trial name
- NCT01564225
- Testing
- EDI200
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Edimer Pharmaceuticals
Upper Extremity Impairments, Cerebral Palsy (CP)
Obi Medical Robot: Evaluating Effectiveness Related to Usability
This mixed-methods usability study evaluates the effectiveness of the Obi Gen 3 robotic feeding device in meeting user needs among providers, caregivers, and patients.
- Conditions
- Upper Extremity Impairments, Cerebral Palsy (CP), ALS - Amyotrophic Lateral Sclerosis, Rett Syndrome
- Trial name
- NCT07151950
- Testing
- One-week trial of Obi Medical device, which provides robotic assistance with feeding to persons with upper extremity impairments who are unable to self-feed in the traditional manner using utensils
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Desin LLC
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Fragile X Syndrome
Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)
The aim of this study is to characterize the pharmacokinetics and safety/tolerability of AFQ056 in children with Fragile X Syndrome(FXS)
- Trial name
- NCT01482143
- Testing
- AFQ056
- Where
- 4 sites in United States, Spain
- Volunteers
- 21 people
- Sponsor
- Novartis Pharmaceuticals
Hemophilia B
Lentiviral FIX Gene Therapy
This study is a Phase I trial using an advanced lentiviral vector to deliver a functional gene for human clotting factor IX into patients with hemophilia B, to evaluate the safety and efficacy of infusion of lentiviral gene…
- Trial name
- NCT03961243
- Testing
- YUVA-GT-F901
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Genetic Disease, Communication
The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD)
Background: We want to learn more about the relationship between the way families function and how children adapt to having a sibling with Duchenne muscular dystrophy (DMD).
- Trial name
- NCT01386515
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Severe Combined Immunodeficiency
Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID
The purpose of this study is to learn what factors influence adolescent girls' decisions regarding testing for carrier status of X-Linked Severe Combined Immunodeficiency (XSCID).
- Trial name
- NCT00006335
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Fabry Disease
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects with Fabry Disease and Amenable GLA Variants and Severe Renal Impairment (SRI) or End Stage Renal Disease (ESRD)
- Trial name
- NCT04020055
- Testing
- migalastat HCl 150 mg
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 14 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
This is an open-label extension study intended to provide continued treatment with migalastat hydrochloride (HCl) for participants with Fabry disease who completed treatment of a previous migalastat HCl study.
- Trial name
- NCT02194985
- Testing
- migalastat HCl 150 mg
- Where
- 28 sites in United States, Argentina and 13 more
- Volunteers
- 84 people
- Sponsor
- Amicus Therapeutics
Hemophilia A, Hemophilia B
German Pediatric Hemophilia Research Database
The German Pediatric Hemophilia Research Database will collect data on the prophylactic and therapeutic use of factor concentrates, complications, outcome measures (joint scores, QoL) and living circumstances in newly diagnosed…
- Conditions
- Hemophilia A, Hemophilia B, Children, Drug Specific Antibodies
- Trial name
- GEPHARD (NCT02912143)
- Testing
- documentation only
- Where
- Germany
- Volunteers
- 800 people
- Sponsor
- Goethe University
Muscular Dystrophy, Duchenne
Phase II Study of NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is inherited neuromuscular disorders due to mutation in the gene that encodes critical muscle protein called dystrophin. Currently, there is no effective treatment option for the disease.
- Trial name
- NORTH POLE DMD (NCT01918384)
- Testing
- NPC-14
- Where
- 4 sites in Japan
- Volunteers
- 21 people
- Sponsor
- Kobe University
Periodontal Disease, Periodontitis
Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)
This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus…
- Conditions
- Periodontal Disease, Periodontitis, CKD, Chronic Kidney Disease
- Trial name
- PERIO-RA-RE (NCT07575347)
- Testing
- Observational assessment
- Where
- Romania
- Volunteers
- 100 people
- Sponsor
- Stefan Lujinschi
Primary Immunodeficiency Disease
IVIG Boya: Safety, Efficacy, and Pharmacokinetics
The goal of this phase 3, open-label, single-group clinical trial is to assess the efficacy of Boya IVIG in maintaining the mean number of serious bacterial infections to less than one per year in participants with primary…
- Trial name
- BoyaIVIG (NCT06150833)
- Testing
- Boya IVIG
- Volunteers
- 50 people
- Sponsor
- Azidus Brasil
Fabry Disease, Neuropathic Pain
Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease
The purpose of this study is to determine efficacy of gabapentin vs. placebo at controlling peripheral neuropathic pain in patients with Fabry disease, and reducing their use of opioid analgesics.
- Trial name
- NCT01588314
- Testing
- Gabapentin
- Where
- United States
- Sponsor
- University of Minnesota
Rett Syndrome
A Study to Evaluate Ketamine for the Treatment of Rett Syndrome
This 2 cohort, sequential, ascending dose study will assess the safety, tolerability and efficacy of oral ketamine dosed in a single 5-day BID regimen in addition to placebo, in a 4-week cross-over design in patients with Rett…
- Trial name
- NCT03633058
- Testing
- Ketamine
- Where
- 7 sites in United States
- Volunteers
- 23 people
- Sponsor
- Rett Syndrome Research Trust
Hemophilia B
Study Evaluating rFIX; BeneFIX® in Hemophilia B
The primary objective of this clinical research study is to assess the safety and efficacy of rFIX for a minimum of 6 months in previously treated patients (PTPs) with hemophilia B (FIX:C ≤2%) during standard-of-care treatment…
- Trial name
- NCT00093171
- Testing
- rFIX
- Where
- 7 sites in United States
- Volunteers
- 23 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Duchenne Muscular Dystrophy
A Phase 2 Study to Evaluate the Safety, Efficacy, Pharmacokinetics and Pharmacodynamics of PF-06252616 in Duchenne Muscular Dystrophy
This is a Phase 2 randomized, 2-period, double-blind, placebo-controlled, multiple ascending dose study to evaluate the safety, efficacy, PK and PD of PF-06252616 administered to ambulatory boys diagnosed with Duchenne Muscular…
- Trial name
- NCT02310763
- Testing
- PF-06252616
- Where
- 66 sites in United States, Australia and 6 more
- Volunteers
- 121 people
- Sponsor
- Pfizer