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NCT ID: NCT04840667 Not yet recruiting - Fabry Disease Clinical Trials

A Study of Replagal in Treatment-naïve Adults With Fabry Disease

Start date: July 9, 2021
Phase: Phase 3
Study type: Interventional

In this study, adults with Fabry Disease who have not had any treatment for this condition will be treated with Replagal. The main aim of the study is to check if Replagal improves kidney function and heart structure of participants with Fabry Disease. Participants will receive one Replagal infusion every other week for up to 104 weeks. They will visit the clinic every 12 to 14 weeks during treatment with a follow-up visit 2 weeks after treatment.

NCT ID: NCT04825119 Recruiting - Tremor Clinical Trials

Hyperkinetic Movements in Patients With Disease of Motor Neurons and Their Response to Treatment With Nusinersen

Start date: October 1, 2017
Study type: Observational

Hyperkinetic movement disorders in patients with diseases of motor neurons will be studied. Patients with spinal muscular atrophy (SMA) and motor neuron disease patients will be studied. Involuntary movements will be video recorded and accelerometry with electromyography (EMG) will be recorded in a subset of patients. Hyperkinetic involuntary movements studied will be tremor and minipolymyoclonus. Tremor is defined as involuntary, rhythmic, oscillatory movements of a body part, and minipolymyoclonus are intermittent and irregular movements, with amplitudes sufficient to produce visible movements of the joints. Hyperkinetic movement disorders may be of central or peripheral origin and using accelerometry with EMG may help distinguish the two mechanisms. In patients with SMA the investigators will explore the effect of Nusinersen treatment on phenomenology and amplitude of tremor and minipolymyoclonus. Aims: To explore the prevalence and phenomenology of hyperkinetic movement disorders in patients with MND and SMA and to study the underlying pathological mechanisms with the use of accelerometry and EMG. To explore the effect of Nusinersen treatment on phenomenology and amplitude of involuntary movements. Hypotheses: Based on clinical observations the investigators believe it will proven that hyperkinetic movement disorders are common in patients with disease of motor neurons. The investigators hypothesize that hyperkinetic movement disorders in MND and SMA patients are of peripheral origin, being caused by uneven graduation of contraction in the wasted muscles with large motor units being active with no sufficient previous recruitment of small units to smooth contraction of large motor units. If tremor and minipolymyoclonus in SMA are due to the activation of enlarged motor units which are caused by reinnervation of muscle fibers, the treatment with Nusinersen will increase the amplitude of tremor and minipolymyoclonus. Methods: Presence, quality, and regularity of hyperkinetic movement disorders will be defined using clinical examination, accelerometry and EMG. Hyperkinetic movements will be classified as minipolymyoclonus or tremor. In patients with SMA, the measurements will be repeated 6-12 months after initiation of treatment with Nusinersen.

NCT ID: NCT04818905 Completed - Blood Pressure Clinical Trials

Helichrysum Italicum Infusion Ingestion in Humans

Start date: June 15, 2020
Phase: N/A
Study type: Interventional

The study evaluates the acute effects of Helichrysum italicum on resting energy expenditure and substrate oxidation in humans. The resting energy expenditure and substrate oxidation will be measured by indirect calorimetry at baseline and after ingestion of either Helichrysum italicum infusion or hot water.

NCT ID: NCT04812119 Recruiting - Clinical trials for CTNNB1 Gene Mutation

Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation

Gen-Phe CTNNB1
Start date: March 1, 2021
Study type: Observational

The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrome.

NCT ID: NCT04782921 Recruiting - Xenograft Model Clinical Trials

Papillae Tunneling Techniques in the Treatment of Isolated Intrabony Defects

Start date: March 3, 2020
Phase: N/A
Study type: Interventional

Papillae tunneling techniques (PTT) are a new approach toward regeneration of isolated intrabony defects. Compared to regular papillae preservation techniques, PTT rely on complete preservation of involved interdental papillae, providing optimal healing environment for periodontal wound. Surgical access is therefore gained either by vertical incision in vestibulum, or by short releasing incision on adjacent tooth. Interdental tissue is then carefully raised in a full thickness manner by tunneling instruments, root surface thoroughly cleaned by the ultrasound scaler or Gracey curettes and defect filled with the biomaterial of choice. While the success and aesthetic results of non-incised papillae techniques are well documented, no paper so far compared clinical results of papillae preservation techniques with different biomaterials. Therefore, the aim of our study is to compare gain of clinical attachment level (defined by sum of pocket probing depth and recession) to regular papillae preservation techniques, and to prove non-inferiority of Gel 40® (collagen matrix, loaded with micronized heterologous bone) to Gen-Os® (granulated cortico-cancellous heterologous bone mix). Secondary objectives include analysis of aesthetic parameters - differences in recession and tip of the papillae location before and after the treatment.

NCT ID: NCT04780074 Recruiting - Clinical trials for Bioavailability of Coenzyme Q10

Comparative Single-dose Bioavailability Study of Different CoQ10 Formulations

Start date: February 28, 2021
Phase: N/A
Study type: Interventional

The single-center, randomized, open-label, five-period crossover single-dose bioavailability study with five CoQ10 formulations

NCT ID: NCT04762927 Recruiting - Clinical trials for Musculoskeletal Diseases

Metric Properties of de Morton Mobility Index

Start date: January 1, 2021
Study type: Observational

Metric properties (convergent validity, predict validity, known-groups validity, responsiveness, floor and ceiling effects, minimal clinically important difference) of the de Morton Mobility Index (DEMMI) in patients with musculoskeletal impairments undergoing impatient rehabilitation will be investigated.

NCT ID: NCT04761562 Recruiting - Clinical trials for Tympanic Membrane Perforation

Use of Autologous Plasma Rich in Platelets and Extracellular Vesicles in the Surgical Treatment of Chronic Middle Ear Infections

Start date: February 14, 2021
Phase: Phase 2/Phase 3
Study type: Interventional

This clinical study evaluates the efficacy of the autologous blood-derived product called platelet- and extracellular vesicle-rich plasma as a supplement to the surgical treatment of chronic tympanic membrane perforations. Half of the participants will be treated with standard surgical procedure called tympanoplasty and addition of platelet- and extracellular vesicle-rich plasma. Another half will be treated with only the standard tympanoplasty.

NCT ID: NCT04760327 Recruiting - Clinical trials for Gynecological Cancers

Electrochemotherapy of Gynecological Cancers

Start date: July 1, 2020
Phase: Phase 2
Study type: Interventional

To determine the effectiveness, feasibility and safety of electrochemotherapy in treatment of local and/or regional recurrences of gynecological cancers with electrochemotherapy in which standard treatment options have been exhausted.

NCT ID: NCT04758845 Recruiting - Safety Clinical Trials

Clinical Study to Evaluate the Safety and Efficacy of New Probiotic Strains in Health Adults

Start date: February 11, 2021
Phase: N/A
Study type: Interventional

This trial is to determine the safety of 4 new probiotic strains and to assess their efficacy in reducing the incidence and/or duration of gastrointestinal problems and infections as well as respiratory infections in healthy adults.