Clinical Trials for Genetic Brain Disorders

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Genetic Brain Disorders from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 19
• Active, not recruiting: 11
• Completed: 12
• Other: 8

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT00029965 — Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

Study description:

This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Patients may be evaluated every 6 months for infantile onset disease, yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel. Data will be evaluated…

NCT02014246 — Genetic Characterization of Movement Disorders and Dementias

Background:

There are two basic types of movement disorders. Some cause excessive movement, some cause slowness or lack of movement. Some of these are caused by mutations in genes. On the other hand, dementia is a condition of declining mental abilities, especially memory. Dementia can occur at any age but becomes more frequent with age. Researchers want to study the genes of families with a h…

NCT00344331 — Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the …

NCT01780168 — The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by problems with the cell s ability to produce energy. Infection in individual…

NCT02119611 — Deep Brain Stimulation Therapy in Movement Disorders

Background:

- In deep brain stimulation (DBS), a device called a neurostimulator is placed in the chest. It is attached to wires in parts of the brain that affect movement. DBS might help people with movement disorders like Parkinson s disease (PD), dystonia, and essential tremor (ET).

Objective:

- To provide DBS treatment to people with some movement disorders.

Eligibility:

- Adults 18…

NCT05588167 — Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C

Background:

Niemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body. There is no cure for NPC, and symptoms only get worse over time. Symptoms can include seizures, difficulty moving or talking, or dementia. But symptoms can vary among different people with the disease. Some may have se…

NCT06884358 — Functional Capacity in Anderson-Fabry Disease Patients

The goal of this observational study is to observe the relation between excercise parameters - assessed by CPET - and rest/stress hemodynamic parameters - assessed by echocardiogram and CMR - in patients with a genetic diagnosis of Anderson-Fabry Disease.

Participants will undergo:

• baseline evaluation: clinical evaluation, disease staging with FASTEX and MSSI, KCCQ for quality of life asses…

NCT00682695 — Genetic and Environmental Risk Factors for Hemorrhagic Stroke

The purpose of this study is to find risk factors for hemorrhagic stroke.

NCT06471127 — Neuroplasticity Biomarkers in Aphasia

Patients with stroke frequently suffer from aphasia, a disorder of expressive and/or receptive language, that can lead to serious health consequences, including social isolation, depression, reduced quality of life, and increased caregiver burden. Aphasia recovery varies greatly between individuals, and likely relies upon the capacity for neuroplasticity, both at a systems level of reorganized …

NCT05066217 — An Efficacy and Safety Study of Clemizole HCl in Patients With Lennox-Gastaut Syndrome

This is a multicenter, Phase 3, randomized, double-blind, placebo-controlled study designed to evaluate the efficacy and safety of clemizole HCL (EPX-100) as adjunctive therapy in children and adult participants with Lennox-Gastaut syndrome (LGS).

NCT07672756 — A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)

The primary objective of this clinical trial is to evaluate the safety and tolerability of single and multiple administrations of PL54 in patients aged 18-55 years. The key questions it aims to answer include:

How safe and tolerable is PL54 in PKU patients following single and multiple administrations?

Researchers will compare the safety and tolerability profiles between single and multiple d…

NCT06700811 — Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies

Epileptic spasms (ES) are a predominantly infantile seizure type observed frequently in certain genetic disorders. Ketogenic diet (high ratio of fat to carbohydrate/protein) is an established non-medication treatment for difficult to control seizures, including ES. Because ES are associated with worse developmental and cognitive outcomes if not detected or treated quickly and effectively, this …

NCT06971731 — A Study of JNT-517 in Participants With Phenylketonuria (PKU)

The goal of this Phase 3, randomized study is to assess the safety, efficacy, tolerability, and pharmacokinetics (PK) of oral JNT-517 in adults (18 years of age or older) with PKU. Participants will receive either JNT-517 or placebo and will be blinded to their treatment assignment. Participants will have a 2 in 3 (or approximately 67%) chance of receiving JNT-517 during the first part of the s…

NCT07378644 — Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants With Huntington’s Disease

The goal of this clinical trial is to test if the drug SKY-0515, an oral medication, can lower harmful proteins linked to Huntington’s Disease (HD) and improve the symptoms of participants with HD. This study includes men and women aged 25 and older who have HD confirmed by genetic testing and meet certain requirements for physical ability and independence.

NCT07109375 — Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting

PEGASO is an observational study designed to collect prospective data on the effectiveness and safety of pegunigalsidase alfa in adult patients with Fabry disease, being treated or planning to start treatment, under real-world setting.

NCT07685210 — GenSci144 Tablets Phase I Clinical Trial

This study is a Phase I single ascending dose clinical trial in which healthy adult volunteers were administered single oral doses of GenSci144 tablets at different levels. It was conducted using a randomized, double-blind, placebo-controlled design, primarily to evaluate the drug’s safety and tolerability, while also exploring its pharmacokinetic and pharmacodynamic characteristics in the body…

NCT07679906 — ALZEVIT: Nationwide Digital APOE ε4 Cohort for Early Alzheimer’s Disease Prevention and Trial Readiness

ALZEVIT is a nationwide, decentralized, digital-first cohort study in France designed to establish a large-scale Apolipoprotein E (APOE) genotyping registry and enable precision prevention strategies for Alzheimer’s disease (AD). Sponsored by Firalis SA and conducted in collaboration with French memory centers, it addresses the need for early identification of individuals at high genetic risk, …

NCT07341763 — Brain Stimulation Effects on Orientation and Mobility Skills in Adults With Vision Impairment

This pilot clinical trial evaluates whether non-invasive brain stimulation improves the orientation and mobility (O&M) skills of individuals with constricted visual fields in both eyes. The study is composed of three visits. The first visit is meant to confirm eligibility by performing a few clinical tests. Eligible participants will then complete two additional visits, one in which the partic…

NCT07521930 — Interfacing With NeuroTechnology to Expand Neural Throughput (INTENT)

The goal of this clinical trial is to evaluate the safety and preliminary efficacy of an implantable device that records and stimulates different areas of the brain to allow adults affected by disabling paralysis (see Eligibility for more details) to control and receive feedback from assistive devices.

Active, Not Recruiting

NCT00001246 — Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers

Magnetic Resonance Imaging (MRI) unlike X-rays and CT-scans does not use radiation to create a picture. MRI use as the name implies, magnetism to create pictures with excellent anatomical resolution. Functional MRIs are diagnostic tests that allow doctors to not only view anatomy, but physiology and function. It is for these reasons that MRIs are excellent methods for studying the brain.

In th…

NCT00005902 — Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease

The purpose of this study is to learn more about the growth of brain and spinal cord tumors and cysts that develop in association with them in patients with von Hippel-Lindau disease. It will examine how fast the tumors grow and try to determine what factors (for example, puberty , pregnancy, menopause, blood proteins, etc.) affect their growth.

Patients between the ages of 8 and 75 years who …

NCT02994719 — Gait Analysis in Neurological Disease

The purpose of this study is to investigate whether speed-dependent measures of gait (so called gait signatures) can be identified in patients with neurological conditions that affect gait, particularly in subjects with parkinsonian disorders.

NCT02741440 — Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

Background:

Spinocerebellar ataxia type 7 (SCA7) is a disease in which people have problems with coordination, balance, speech and vision. It is caused by a change in the ATXN7 gene. A mutation in this ATXN7 gene causes changes in eye cells, which can lead to vision loss. There is no cure for SCA7 but researchers are looking for possible treatments. Researchers need more information about SCA7…

NCT03655223 — Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health condi…

NCT03737214 — A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease

A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease. This study includes a sub-study evaluating kidney Gb3 inclusions (and other histologic lesions) in male participants with classic Fabry disease who have been treated for at least 2 years with lucerastat monotherapy in study ID-069A302.

NCT03975829 — Pediatric Long-Term Follow-up and Rollover Study

A roll-over study to assess long-term effect in pediatric patients treated with dabrafenib and/or trametinib.

NCT04713475 — Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis

PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues. This study will assess in a 2 part design the safety, tolerability and efficacy of PBGM01 in patients with early onset infantile (Type 1) and late onset infantile (Type 2a) GM1 gangliosidosis

NCT04020055 — 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)

NCT05003648 — Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy

The investigators recently observed that up to 25% of women with X-linked adrenoleukodystrophy (ALD) have moderate to severe Restless Leg Syndrome (RLS). In this study, the investigators aim to estimate the prevalence of RLS among women with ALD and to assess whether pramipexole improves RLS symptoms as well as sleep and gait measures in women with ALD.

NCT06961344 — An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)

The goal of this clinical trial is to evaluate the long-term safety and tolerability of zagociguat in patients with MELAS who completed study medication treatment in the lead-in study TIS6463-203. TIS6463-204 is evaluating zagociguat in an open-label extension study at the daily dose of 15mg. The study medication is a once daily oral table and will be provided at the clinic and/or shipped to th…

Not Yet Recruiting

NCT07641140 — Phase I/II Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult Patients With Wilson’s Disease

This is a multicenter, open-label, single-arm, single-dose Phase I/II clinical study. It aims to evaluate the safety, tolerability, efficacy, immunogenicity, pharmacodynamic (PD) and pharmacokinetic (PK) profiles of LY-M003 Injection in patients with Wilson’s Disease (WD).

NCT07681713 — Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich’s Ataxia (FA)

The purpose of this study is to confirm the treatment effects of vatiquinone on the key measures of FA disease progression.

NCT07675720 — Concurrent Training vs Soleus Push-Ups on Neurogenesis-Related Biomarkers in Diabetic Neuropathy Patients

This study will examine how two types of exercise programs affect nerve health in people with diabetic peripheral neuropathy. Diabetic peripheral neuropathy is a common complication of type 2 diabetes that can cause numbness, pain, balance problems, and reduced quality of life. Exercise is often recommended for people with diabetes, but it is not yet clear which types of exercise are most effec…

NCT07680322 — A Phase 2 Study of the Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy

This Phase 2, randomized, double-blind, placebo-controlled study will evaluate the safety, tolerability, and efficacy of oral AV078 in participants with refractory epilepsy due to tuberous sclerosis complex (TSC). Approximately 42 participants will be randomized in a 5:1 ratio to receive AV078 or placebo.

The study will include a Screening Period collecting 4 weeks of pre-treatment Baseline da…

Enrolling by Invitation

NCT00001215 — Genetic Studies of Lysosomal Storage Disorders

The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.

There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpat…

Completed Trials

NCT00001486 — Genetic Study of Schizophrenia

This large ongoing study at NIMH investigates the neurobiology of schizophrenia by identifying susceptibility genes, evaluating their impact on brain function to better understand how to treat and prevent this illness.

NCT00001452 — Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex

Lentiginosis refers to groups of diseases marked by the presence of pigmented spots on the skin. These conditions are most commonly associated with multiple tumors and changes in hormone producing glands. The cause of these diseases is unknown, but researchers suggest there may be a level of inheritance involved in their development. Meaning to say that some of these diseases may “run in the fa…

NCT01019343 — Physiological Investigations of Movement Disorders

Background:

• Previous studies have given researchers information on how the brain controls movement, how people learn to make fine, skilled movements, and why some people have movement disorders. However, further research is needed to learn more about the causes of most movement disorders, such as Parkinson’s disease.
• By using small, specialized studies to evaluate people with movement diso…

NCT01498263 — Inherited Diseases, Caregiving, and Social Networks

Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of inherited conditions. Previous studies have not examined caregiving from a network perspective, nor have they considered how cognitive and emotional responses, such as caregiv…

NCT01961557 — Evaluating a New Knee-Ankle-Foot Brace to Improve Gait in Children With Movement Disorders

Background:

- Cerebral palsy (CP) is the most common motor disorder in children. CP often causes crouch gait, an abnormal way of walking. Knee crouch has many causes, so no single device or approach works best for everybody. This study s adjustable brace provides many types of walking assistance. Researchers will evaluate brace options to find the best solution for each participant, and wheth…

NCT05157074 — Group Drum-Based Music Therapy Intervention for Parkinson’s Disease/Huntington’s Disease

Participants in this study (18-89 years) with Parkinson’s disease or Huntington’s disease receive drum classes twice a week for 12 weeks (24 lessons). All participants also participate in study visits for assessments before the beginning of the study, at the 6 week mark, at the 12 week mark and at the 18 week mark so that the investigators can assess the short and long term effects of drum clas…

NCT07685314 — LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS

Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD may have an increased frequency of cerebrovascular and aortic vascular abnormalities, but available evidence is limited.

This multicenter, non-interventional study ai…

NCT05269953 — Median Nerve Stimulation for Tourette Syndrome and Chronic Tic Disorder

Tourette syndrome (TS) and chronic tic disorder (CTD) are neurodevelopmental disorders that impact approximately 1% of 5-18 year olds worldwide. Both TS and CTD are characterised by the presence of tics, which are repetitive, purposeless, movements or vocalisations of short duration which can occur many times throughout a day. Tics can have a significant negative impact on daily functioning and…

NCT05781399 — First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria

The goal of Parts A and B of this Phase 1/2, first-in-human, randomized study is to assess the safety, tolerability, and pharmacokinetics (PK) of single (SAD) and multiple (MAD) ascending doses of oral JNT-517 in healthy participants. In Part C, the goal is to evaluate the differences in bioavailability between a tablet and suspension formulation of JNT-517 and the food effect in healthy volunt…

NCT06592404 — The (Cost)Effectiveness of a Social Robot for Persons With Problems in Daily Structure and Planning in Disability Care

The goal of this multiple baseline single case study is to study the (cost)effectiveness of a social robot in reducing professional caregiver support and promoting independence for individuals in long-term disability care experiencing problems with daily structure and planning. The main research questions it aims to answer are:

• What is the effect of the social robot on the frequency of momen…

NCT06206824 — Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer’s Disease

Leucettinib-21 First-in-Human Phase 1 Study in 6 Parts: Single (Part 1 and 5) and Multiple (Part 3 and 6) Ascending Doses, and Food-Effect (Part 2) in Healthy Subjects, and Single Dose (Part 4) in People with Down Syndrome (DS) and Alzheimer’s Disease (AD).

For Parts 1, 3, 4, 5 and 6, safety and tolerability of an oral administration of Leucettinib-21 will be assessed as primary objectives. Ph…

NCT06402123 — A Phase 2b Study of Zagociguat in Patients With MELAS

PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs. placebo when administered daily for 12 weeks in participants with genetically and phenotypically defined MELAS.

Available Studies

NCT03778424 — 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 the EAP.

NCT07675031 — Managed Access Program of Venglustat in Pediatric and Adult Patients With Type 3 Gaucher Disease (GD3).

The objective of this program is to provide early access to venglustat for certain patients with Gaucher disease type 3 in response to unsolicited requests from healthcare providers. No approved therapies for the CNS manifestations of the disease are currently available. The program will provide access to venglustat prior to registration and the availability of commercial product (including rei…

Other (Suspended)

NCT04771416 — Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease

PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues. This study will evaluate the safety, tolerability and efficacy of this treatment by first evaluating two different doses in two different age groups, then confirming the optimal dose to be used for confirmation of safety and efficacy.