Active Clinical Trials and Studies
ACTIVE CLINICAL TRIALS
1. The Batten disease trial
Aim: An open-label study that is being conducted in two centers to assess the safety, pharmacokinetics and efficacy of oral miglustat in young adults with juvenile Batten (CLN3) disease.
Inclusion criteria: Individuals who
- have provided informed consents (TCH and NIH) by subject or parent/legal guardian/legally authorized representative (as appropriate).
- are males or females ≥ 17 years of age at the time of screening
- have genetically confirmed diagnosis of syndromic CLN3 disease with
- two pathogenic mutations in the CLN3 gene, OR
- one confirmed pathogenic AND one variant of unknown significance, OR 2 variants of unknown significance, PLUS secondary confirmation with evidence of characteristic inclusions on electron microscopy AND characteristic clinical course.
There is no restriction on the specific CLN3 mutations for eligibility to enroll in the study. The mutations will be recorded in the electronic case report form (eCRF) for potential use in determining if CLN3 genotype is associated with tolerability and/or effectiveness of Batten-102 therapy.
- male and female participants must use a highly effective method of contraception and must continue for the duration of the trial (and for 30 days after the end of treatment).
- are able to complete study assessments (subject or caregiver) and return to the clinic as scheduled
Exclusion criteria: Individuals who
- have a medical condition that in the opinion of the principal investigator (PI) would interfere with the safety assessments or increase the subject's risk of AEs.
- Use of any therapy (approved, off-label, or unapproved) intended to modify the course of any neuronal ceroid lipofuscinosis disease, including but not limited to flupirtine or flupirtine derivatives, cerliponase alfa (Brineura)
- have, in the opinion of the principal investigator (PI), a clinically significant abnormality in their clinical laboratory values (hematology, chemistry, or urinalysis) at screening that would preclude their participation in the study.
- have a known allergy or hypersensitivity to miglustat, or any component of the study drugs.
- have a severe renal disease (creatinine clearance < 30 ml/min/1.73 m2).
- have a history of substance abuse or alcohol abuse within 2 years before screening.
- have a medical history of HIV, hepatitis B, hepatitis C, or positive results at screening.
- have any active malignancy of any type except non-melanoma skin cancer.
- have a medical history of major mental illness that, in the opinion of the PI may affect the ability of the subject to participate in the study. Institutionalized subjects are not eligible for participation.
- have received gene therapy intended to modify the course of CLN3 disease.
- have been exposed to any miglustat or investigational agent, including but not limited to, flupirtine or flupirtine derivatives, within 30 days or 5 half-lives (whichever is longer) prior to check-in for the Week 1 visit, or is scheduled to receive an investigational device or drug (other than test product) during the course of the study.
- participated in another interventional study during the last three months before screening.
Dr. Gary Clark
Section Chief, Neurology and Developmental Neuroscience, Texas Children’s Hospital
Professor, Baylor College of Medicine
ClinicalTrials Identifier: NCT05174039
More information: https://www.clinicaltrials.gov/ct2/show/NCT05174039?cond=batten+disease&draw=2&rank=1
2. Angelman syndrome: The HALOS study
Aim: A phase 1-2a trialto evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of intrathecally administered ION582 in patients with Angelman syndrome (HALOS).
- Participant has a documented and certified diagnosis of Angelman syndrome (AS) (ubiquitin-protein ligase E3A [UBE3A] deletion or UBE3A mutation)
- Male or female between the ages of 2-50 years of age, with signed informed consent from parent(s) or legal guardian(s)
- Currently receiving stable standard of care treatments such as, stable doses of anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and including special diets, supplements or nutritional support for at least 3 months prior to first dose.
- Follow good study practice and not participate in the sharing of personal or study information on social media platforms, such as any website or social media site (e.g., Facebook, Instagram, Twitter, YouTube, etc.) until notified that the study is completed.
- Has documented molecular AS confirmation of paternal uniparental disomy (UPD) or imprinting defect (ID).
- Any clinically significant (CS) cardiovascular, endocrine, hepatic, renal, pulmonary, gastrointestinal, neurologic, malignant, metabolic, psychiatric, or other condition that, in the judgment of the Investigator, will pose a safety risk, will make the patient unsuitable for participation in, and/or unable to complete the study procedures. Has poorly controlled seizures as determined by the Investigator or has documented Status Epilepticus in the past 6 months that could pose a safety risk while on study.
- Known bone, spine, bleeding, or other disorder that exposes the patient to risk of injury or unsuccessful lumbar puncture. Previous treatment with an oligonucleotide (including small interfering ribonucleic acid, antisense oligonucleotide [ASOs]). COVID-19 vaccinations are allowed.
- Any prior use of gene therapy. Have any other conditions, which, in the opinion of the Investigator would make the participant unsuitable for inclusion or could interfere with the participant taking part in or completing the study.
Dr. Carlos Bacino, MD, FACMG
Professor and Vice-Chair, Clinical Affairs at Baylor College of Medicine
Chief, Genetics Service at Texas Children's Hospital
Luis Vizcaino, ACRP-CCRC
ClinicalTrials.gov Identifier: NCT05127226
More information: https://www.clinicaltrials.gov/ct2/show/NCT05127226?term=NCT05127226&draw=2&rank=1
ACTIVE CLINICAL STUDIES
The Epilepsy Genetics Initiative
Aim: To provide trio whole genome sequencing for patients with epilepsy where the cause remains unknown after genetic workup
Inclusion (all must be met):
- Child or adult with epilepsy diagnosed in infancy or early childhood
- Previous CMA and TRIO WES* with negative or inconclusive results
- Both biological parents and child must be available and willing to provide samples (blood for WGS and skin biopsy for RNA-seq)
- Evidence of infection, trauma, or stroke as possible etiologies for epilepsy
Application: Clinicians encouraged to discuss with family and either one can complete an online survey at: https://redcap.link/epilepsy
Study contacts: Dr. Hsiao-Tuan Chao, MD, PhD
*We will consider negative proband WES cases if re-analysis was recently completed, but we will prioritize negative trio WES cases
2. The Texome Project
Aim: To provide proband/trio exome sequencing for families with undiagnosed diseases who cannot otherwise afford or have access to this testing
- Child or adult with a rare condition of unknown cause but suspected genetic etiology AND at least 1 of the following:
- Insurance denial for genetic testing
- Public insurance such as Medicaid
- Incomplete or total lack of insurance coverage
- Previous genetic diagnosis
- Previous WES or WGS completed in the last 2 years
Participant Compensation: $100 if patient completes all 5 study appointments (virtual options available)
Application: Clinicians encouraged to discuss with family and either one can complete an online survey at: https://redcap.link/texome-project
3. The Brain Gene Registry
Aim: To provide patients with variants found in suspected ID/Autism genes an opportunity to advance knowledge on the relationship between genetic changes and human disease by enrolling in a national patient registry
Inclusion (all must be met):
- Child or adult with a confirmed (P/LP/VUS) variant in at least 1 priority gene* suspected to cause ID/Autism
- Access to a web-based device with a video camera and microphone
- Ability to complete a video appointment with virtual neuropsychological assessment
- Non-English speakers (for now, likely to change in the future)
Participant Compensation: $100 if patient completes all 2 study appointments (both virtual)
Application: Clinicians encouraged to discuss with family and contact study members below
*There are currently 55 priority genes curated from ID/Autism panels, and more may be added over time. It is not necessary to remember which genes are on the list. If a patient receives a positive or VUS result in a suspected ID/Autism gene and little information is known about the gene, they are likely a good match for this study.