This study is currently recruiting participants.
Number
000686-CH
Sponsoring Institute
National Institute of Child Health and Human Development (NICHD)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Months Max Age: 25 Years
Referral Letter Required
Yes
Population Exclusion(s)
None
Keywords
NPC1; Expanded Access
Recruitment Keyword(s)
Condition(s)
Niemann-Pick Disease, Type C
Investigational Drug(s)
2-hydroxypropyl-B-cyclodextrin
Investigational Device(s)
Intervention(s)
Drug: VTS-270
Supporting Site
National Institute of Child Health and Human Development
We are requesting to be added to forementioned iIND /expanded access protocol (EAP), to treat one patient. Subject ID 1108-006 (16CH0016), a 20 year old male from Mexico, was enrolled on protocol 16-CH-0016 (VTS301) in January 2017 and randomized to the treatment arm for lumbar intrathecal administration of adrabetadex (VTS-270) every two weeks. During the randomized period of the trial his neurologic symptoms of NPC1 disease remained stable with some mild perceived improvement in fine and gross motor areas by his family and study team members. In January 2018 he experienced an acute episode of dystonic storm, which has been reported in NPC1 patients and has an unknown association to the study drug. Study drug dosing was held during a prolonged inpatient admission to the NIH CRC, during which his dystonic movements were stabilized with pharmacologic management and study drug dosing resumed in April 2018. Since then, his neurologic manifestations of NPC have remained stable (per report from family members, observations by the NIH medical team and supported by NPC clinical severity scores). Continuation of dosing at the NIH is necessary for NPC stabilization of his known dystonia; there is no local medical care in Mexico to appropriately manage care. Dosing frequency was changed from every 2 weeks to monthly dosing in March 2020 due to Covid-19, to minimize the amount of travel necessary for the patient and his mother and thus reduce their risk of exposure. The monthly dosing is supported by data from the Phase 1 IT study and is allowed in both protocol 16-CH-0016 as well as the Rush expanded access protocol on which we are submitting to continue dosing.
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ELIGIBILITY CRITERIA: 1) Age 2 months to 25 years inclusive 2) Weight of 7 kg or higher 3) Ineligible for all currently enrolling interventional clinical trials for NPC being conducted in the USA 4) Diagnosis of NPC confirmed based on documentation of molecular pathogenic variants in an NPC gene as follows: Patients with 2 pathogenic mutations in NPC1 or NPC2 (pathogenic defined as a previously known mutation seen in other NPC patients, or one not previously seen but determined to be pathogenic based on standard ACMG guidelines). 5) Patients with either of the following two clinical situations, indicating aggressive neurological disease. a. Early infantile onset disease with neurological onset prior to age 2 years as defined by Freihuber et al. 2023 with at least one of the following: 1. Delayed motor development defined by: autonomous sitting position after age 9 months, standing position or walk with support after age 13 months, and/or autonomous walk (10 independent steps) after age 18 months. 2. Delayed language development defined by first words after age 18 months. 3. Neurological symptoms before age 2 years of persistent axial hypotonia, limb hypertonia (dystonic or spastic), dysphagia, vertical supranuclear gaze palsy (VSGP) or oculomotor apraxia , gelastic cataplexy, seizures, ataxia, dysmetria and/or impaired global or fine motor coordination and/or clumsiness b. Onset of disease after age 2 years but progressive neurological symptoms and no other treatment options, or have failed to show benefit/disease stabilization on other treatments. Progressive neurological symptoms may include progressive dysphagia, ataxia, dysarthria, dysmetria, or dystonia; regression of previously attained motor, fine motor, speech, or cognitive skills; vertical supranuclear gaze palsy; and/or epilepsy.
1) Age 2 months to 25 years inclusive
2) Weight of 7 kg or higher
3) Ineligible for all currently enrolling interventional clinical trials for NPC being conducted in the USA
4) Diagnosis of NPC confirmed based on documentation of molecular pathogenic variants in an NPC gene as follows: Patients with 2 pathogenic mutations in NPC1 or NPC2 (pathogenic defined as a previously known mutation seen in other NPC patients, or one not previously seen but determined to be pathogenic based on standard ACMG guidelines).
5) Patients with either of the following two clinical situations, indicating aggressive neurological disease.
a. Early infantile onset disease with neurological onset prior to age 2 years as defined by Freihuber et al. 2023 with at least one of the following:
1. Delayed motor development defined by: autonomous sitting position after age 9 months, standing position or walk with support after age 13 months, and/or autonomous walk (10 independent steps) after age 18 months.
2. Delayed language development defined by first words after age 18 months.
3. Neurological symptoms before age 2 years of persistent axial hypotonia, limb hypertonia (dystonic or spastic), dysphagia, vertical supranuclear gaze palsy (VSGP) or oculomotor apraxia , gelastic cataplexy, seizures, ataxia, dysmetria and/or impaired global or fine motor coordination and/or clumsiness
b. Onset of disease after age 2 years but progressive neurological symptoms and no other treatment options, or have failed to show benefit/disease stabilization on other treatments. Progressive neurological symptoms may include progressive dysphagia, ataxia, dysarthria, dysmetria, or dystonia; regression of previously attained motor, fine motor, speech, or cognitive skills; vertical supranuclear gaze palsy; and/or epilepsy.
Principal Investigator
Referral Contact
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